SitesBLAST
Comparing 3607252 FitnessBrowser__Dino:3607252 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 20 (the maximum) hits to proteins with known functional sites (download)
P32113 Probable copper-importing P-type ATPase A; EC 7.2.2.8 from Enterococcus hirae (strain ATCC 9790 / DSM 20160 / JCM 8729 / LMG 6399 / NBRC 3181 / NCIMB 6459 / NCDO 1258 / NCTC 12367 / WDCM 00089 / R) (see paper)
30% identity, 94% coverage: 42:729/729 of query aligns to 12:722/727 of P32113
- C17 (= C47) mutation to S: Still strongly interacts with CopZ but abolishes the modulating activity of copper; when associated with S-20.
- C20 (= C50) mutation to S: Still strongly interacts with CopZ but abolishes the modulating activity of copper; when associated with S-17.
Q2FV64 Copper-exporting P-type ATPase; Copper-exporting P-type ATPase A; Cu(+)-exporting ATPase; Cu(I)-translocating P-type ATPase; EC 7.2.2.8 from Staphylococcus aureus (strain NCTC 8325 / PS 47) (see paper)
30% identity, 95% coverage: 40:729/729 of query aligns to 76:791/802 of Q2FV64
- C83 (= C47) mutation to A: Abolishes copper binding; when associated with A-16; A-19 and A-86.
- C86 (= C50) mutation to A: Abolishes copper binding; when associated with A-16; A-19 and A-83.
Sites not aligning to the query:
- 16 C→A: Abolishes copper binding; when associated with A-19; A-83 and A-86.
- 19 C→A: Abolishes copper binding; when associated with A-16; A-83 and A-86.
4bbjA Copper-transporting pib-atpase in complex with beryllium fluoride representing the e2p state (see paper)
35% identity, 79% coverage: 155:729/729 of query aligns to 44:660/664 of 4bbjA
Sites not aligning to the query:
4bevA Atpase crystal structure with bound phosphate analogue
35% identity, 79% coverage: 155:729/729 of query aligns to 43:659/663 of 4bevA
3rfuA Crystal structure of a copper-transporting pib-type atpase (see paper)
35% identity, 79% coverage: 155:729/729 of query aligns to 43:659/663 of 3rfuA
Q5ZWR1 Copper-exporting P-type ATPase; Copper-exporting P-type ATPase A; Copper-transporting PIB-type ATPase; Cu(+) transport ATPase; Cu(+)-ATPase LpCopA; LpCopA; EC 7.2.2.8 from Legionella pneumophila subsp. pneumophila (strain Philadelphia 1 / ATCC 33152 / DSM 7513) (see 2 papers)
35% identity, 79% coverage: 155:729/729 of query aligns to 116:732/736 of Q5ZWR1
- E189 (≠ D216) mutation to N: Strong decrease in activity.; mutation to Q: Decrease in activity.
- D426 (= D450) binding ; mutation to N: Lack of activity. Loss of phosphorylation in the absence of Cu(+).
- T428 (= T452) binding
- D624 (= D628) binding
- P710 (= P707) mutation to A: Strong decrease in activity.
- M711 (≠ L708) mutation to L: Strong decrease in activity.
- A714 (= A711) mutation to T: Strong decrease in activity.
- M717 (= M714) mutation to V: Strong decrease in activity.
Sites not aligning to the query:
- 94 P→A: Strong decrease in activity.
- 100 M→E: Decrease in activity.; M→L: Slight decrease in activity.
O29777 Probable copper-exporting P-type ATPase; Copper-exporting P-type ATPase A; Cu(+)-exporting ATPase; EC 7.2.2.8 from Archaeoglobus fulgidus (strain ATCC 49558 / DSM 4304 / JCM 9628 / NBRC 100126 / VC-16) (see 2 papers)
31% identity, 94% coverage: 44:729/729 of query aligns to 24:726/804 of O29777
- C27 (= C47) mutation to A: Reduction in ATPase activity; when associated with A-30.
- C30 (= C50) mutation to A: Reduction in ATPase activity; when associated with A-27.
- C380 (= C406) mutation to A: Abolishes activity.
- C382 (= C408) mutation C->A,S: Abolishes activity.
Sites not aligning to the query:
- 751 C→A: No effect on ATPase activity; when associated with A-754. Reduction in ATPase activity; when associated with A-27; A-30 and A-754.
- 754 C→A: No effect on ATPase activity, when associated with A-751. Reduction in ATPase activity; when associated with A-27; A-30 and A-751.
7si6A Structure of atp7b in state 1 (see paper)
28% identity, 92% coverage: 34:707/729 of query aligns to 71:807/873 of 7si6A
O30085 Copper-exporting P-type ATPase B; EC 7.2.2.9 from Archaeoglobus fulgidus (strain ATCC 49558 / DSM 4304 / JCM 9628 / NBRC 100126 / VC-16) (see paper)
32% identity, 84% coverage: 118:729/729 of query aligns to 56:690/690 of O30085
- D389 (= D450) active site, 4-aspartylphosphate intermediate
- K565 (= K609) binding
Q59385 Copper-exporting P-type ATPase; Copper-exporting P-type ATPase A; Cu(+)-exporting ATPase; Soluble copper chaperone CopA(Z); EC 7.2.2.8 from Escherichia coli (strain K12) (see 6 papers)
30% identity, 95% coverage: 40:728/729 of query aligns to 103:827/834 of Q59385
- CASC 110:113 (= CASC 47:50) mutation to AASA: Wild-type growth in the presence of CuSO(4), no change in Cu efflux. Still forms phosphate intermediate; when associated with 14-A--A-17.; mutation to SASS: Loss of CuSO(4)-stimulation of ATPase. When present in the 51-K--G-834 fragment growth in CuSO(4) is not restored by protein fragment 1-M--A-70.
- M204 (≠ G144) mutation to A: Decreased transfer of Cu(+) to CusF, binds 2 Cu(+).
- DNMM 207:210 (vs. gap) mutation to AAAA: First half of periplasmic loop 1, transfers about 10% Cu(+) to CusF.
- TADNR 212:216 (≠ EAATR 146:150) mutation to AAANA: Second half of periplasmic loop 1, wild-type transfer of Cu(+) to CusF.
- WPQWF 273:277 (≠ YET-- 204:206) mutation to APQAA: First half of periplasmic loop 2, nearly wild-type transfer of Cu(+) to CusF.
- MEARH 279:283 (≠ NSGAH 208:212) mutation to AAARA: Second half of periplasmic loop 2, wild-type transfer of Cu(+) to CusF.
- E287 (≠ D216) mutation to A: Decreased transfer of Cu(+) to CusF.
- C479 (= C406) mutation to A: Loss of copper resistance, transport and phosphoenzyme formation.
- C481 (= C408) mutation C->A,H: Loss of copper resistance, transport and phosphoenzyme formation.
- WPFTGT 797:802 (≠ ---IAG 701:703) mutation to APFAGA: Periplasmic loop 4, nearly wild-type transfer of Cu(+) to CusF.
Sites not aligning to the query:
- 1 modified: Initiator methionine, Removed
- 1:70 mutation Missing: Slight increase in CuSO(4)-stimulation of ATPase, no growth in CuSO(4). Grows when this protein fragment is provided in trans or if B.subtilis CopZ is present.
- 3:113 mutation Missing: No resistance to CuSO(4), does not form phosphate intermediate.
- 7:54 mutation Missing: Partial resistance to CuSO(4), forms phosphate intermediate.
- 8:150 mutation Missing: Loss of growth in the presence of CuSO(4), loss of Cu efflux.
- 14:17 CGHC→AGHA: Wild-type growth in the presence of CuSO(4), no change in Cu efflux. Still forms phosphate intermediate; when associated with 110-A--A-113.; CGHC→SGHS: No change in CuSO(4)-stimulation of ATPase. When expressed as an isolated protein fragment (residues 1-70) does not restore growth to the 71-K--G-834 fragment.
- 32:67 EQADVSITEAHVTGTASAEQLIETIKQAGYDASVSH→SRRMCLSLKRTLPGLPVQNSRSKPSNKRVMTHLYAN: Reduces -1 frameshifting efficiency about 2-fold in a 104 residue truncated construct.
Q04656 Copper-transporting ATPase 1; Copper pump 1; Menkes disease-associated protein; EC 7.2.2.8 from Homo sapiens (Human) (see 17 papers)
27% identity, 92% coverage: 36:708/729 of query aligns to 564:1380/1500 of Q04656
- E628 (= E99) to V: in MNK; loss of protein expression
- K633 (vs. gap) to R: in MNK; loss of protein expression
- S653 (vs. gap) to Y: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- G666 (= G128) to R: in MNK; subcellular location restricted to post-TGN compartments; impaired copper transport activity; dbSNP:rs797045344
- I669 (≠ M131) to T: in dbSNP:rs2234935
- G727 (≠ C168) to R: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs72554644
- G728 (≠ A169) to D: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs797045350
- S761 (= S202) to P: in MNK; has no effect on copper-dependent trafficking from TGN to post-TGN compartments; impaired copper transport activity
- V767 (vs. gap) to L: in dbSNP:rs2227291
- K802 (≠ R236) to N: in MNK; loss of protein expression
- R844 (≠ V272) to H: in MNK; loss of protein expression; dbSNP:rs367775730
- G860 (= G288) to V: in MNK; decreased protein abundance; impaired copper transport activity
- L873 (= L301) to R: in MNK; increased protein abundance; does not affect interaction with ATOX1; does not affect interaction with COMMD1; increased localization at the plasma membrane; does not cycle back to TGN under conditions of copper depletion; dbSNP:rs72554646
- G876 (= G304) to E: in MNK; subcellular location restricted to post-TGN compartments; impaired copper transport activity; to R: in MNK; loss of protein expression
- Q924 (≠ E352) to R: in OHS; has no effect on copper-dependent trafficking; impaired copper transport activity
- T994 (≠ A400) to I: in DSMAX3; demonstrates impaired intracellular trafficking compared to control with some of the mutant protein remaining in the Golgi apparatus after exposure to copper; dbSNP:rs267606673
- C1000 (= C406) to R: in MNK; decreased protein abundance; increased protein degradation; does not affect interaction with ATOX1; does not affect interaction with COMMD1; subcellular location restricted to TGN; does not localizes to the plasma membrane in response to elevated copper levels; impaired copper transport activity
- G1005 (= G411) to R: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs1569550143
- A1007 (= A413) to V: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- G1015 (≠ A421) to D: in MNK; subcellular location restricted to post-TGN compartments; impaired copper transport activity
- K1037 (≠ E443) to N: in MNK; loss of protein expression
- D1044 (= D450) to G: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; mutation to E: Impairs tyrosinase activity involved in melanin synthesis.
- E1081 (≠ A480) binding
- G1255 (= G582) to R: in MNK; decreased protein abundance; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs72554655
- K1282 (= K609) to E: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- G1300 (= G627) to E: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- D1301 (= D628) to G: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs1557238588
- G1302 (= G629) to E: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; to V: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- N1304 (= N631) to K: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; to S: in OHS; has approximately 33% residual copper transport; increased protein abundance; increased localization at the plasma membrane; does not cycle back to TGN under conditions of copper depletion; does not affect interaction with ATOX1; does not affect interaction with COMMD1; dbSNP:rs151340632
- D1305 (= D632) to A: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; to G: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- A1308 (= A635) to D: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- G1315 (≠ S642) to R: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity; dbSNP:rs797045390
- A1325 (= A652) to V: in MNK; subcellular location restricted to post-TGN compartments; impaired copper transport activity
- K1350 (= K677) to E: in dbSNP:rs4826245
- A1362 (≠ S689) to V: in MNK; decreased protein abundance; increased protein degradation; does not affect interaction with ATOX1; does not affect interaction with COMMD1; subcellular location restricted to TGN; does not localizes to the plasma membrane in response to elevated copper levels; impaired copper transport activity
- G1369 (≠ A696) to R: in MNK; loss of protein expression
- A1373 (= A700) to P: in MNK; loss of protein expression
Sites not aligning to the query:
- 18 binding
- 19 binding
- 22 binding ; C→A: Impairs Cu(+)-bridged heterodimer formation with ATOX1 while increasing the reactivity toward cisplatin.
- 1386 P → S: in DSMAX3; demonstrates impaired intracellular trafficking compared to control with some mutant protein remaining in the Golgi apparatus after exposure to copper; dbSNP:rs267606672
- 1393 M → T: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- 1397 S → F: in MNK; impaired copper-dependent trafficking from TGN to post-TGN compartments; subcellular location restricted to TGN; impaired copper transport activity
- 1487:1488 LL→AA: Loss of relocalization to the trans-Golgi.
Q9S7J8 Copper-transporting ATPase RAN1; Protein HEAVY METAL ATPASE 7; Protein RESPONSIVE TO ANTAGONIST 1; EC 7.2.2.8 from Arabidopsis thaliana (Mouse-ear cress) (see paper)
31% identity, 78% coverage: 141:709/729 of query aligns to 327:957/1001 of Q9S7J8
- T497 (= T303) mutation to I: In ran1-1.
Sites not aligning to the query:
- 173 G→E: In ran1-2.
8ioyA Structure of atp7b c983s/c985s/d1027a mutant with amp-pnp (see paper)
28% identity, 92% coverage: 36:708/729 of query aligns to 3:757/816 of 8ioyA
- binding phosphoaminophosphonic acid-adenylate ester: T468 (= T452), H508 (= H485), L510 (= L487), G538 (= G511), G540 (= G513), I541 (vs. gap), I559 (≠ L525), N561 (≠ R527), I591 (≠ P550), T631 (≠ S581), N681 (= N631)
P35670 Copper-transporting ATPase 2; Copper pump 2; Wilson disease-associated protein; EC 7.2.2.8 from Homo sapiens (Human) (see 79 papers)
28% identity, 92% coverage: 36:708/729 of query aligns to 564:1346/1465 of P35670
- N565 (≠ G37) to S: in dbSNP:rs778475094
- C575 (= C47) binding
- C578 (= C50) binding
- G591 (= G63) to D: in WD; increased interaction with COMMD1; decreased localization to trans-Glogi network; dbSNP:rs797045402; to S: in WD; uncertain significance; dbSNP:rs1566559224
- V597 (= V69) to I: in WD; uncertain significance; dbSNP:rs760501309
- A604 (≠ V76) to P: in WD; uncertain significance; increased interaction with COMMD1
- V606 (≠ I78) to G: in WD; uncertain significance; dbSNP:rs1173050016
- FD 608:609 (≠ AE 80:81) natural variant: FD -> Y (in WD; uncertain significance)
- G614 (≠ T85) to C: in WD; uncertain significance; dbSNP:rs376565432
- R616 (≠ E87) to Q: in WD; uncertain significance; does not affect interaction with COMMD1; dbSNP:rs752850609; to W: in WD; decreased copper transport activity; increased ATPase activity; does not affect interaction with COMMD1; dbSNP:rs374172791
- G626 (= G97) to A: in WD; uncertain significance; no effect on protein abundance; no effect on protein localization; may have an effect on copper transport activity; no effect on ATPase activity; does not affect interaction with COMMD1; dbSNP:rs587783299
- H639 (≠ Y101) to Y: in WD; uncertain significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; dbSNP:rs200728096
- L641 (= L103) to S: in WD; uncertain significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; does not affect interaction with COMMD1; dbSNP:rs186924074
- D642 (= D104) to H: in WD; uncertain significance; no effect on protein abundance; no effect on protein localization; no effect on copper transport activity; does not affect interaction with COMMD1; dbSNP:rs72552285
- M645 (≠ A111) to R: in WD; also found in a patient with hypoceruloplasminemia without clinical manifestations of WD in the central nervous system or liver; a liver biopsy of the patient with hypoceruloplasminemia shows no copper or iron accumulation in Kupffer cells or hepatocytes; due to a nucleotide substitution that also results in out-of-frame partial skipping of exon 6, stop gain and reduced expression of the truncated protein; variant R-645 has no effect on protein localization; no effect on copper transport; does not affect interaction with COMMD1; dbSNP:rs121907998
- S653 (≠ D119) to Y: in WD; uncertain significance; no effect on protein abundance; altered copper-induced relocalization; no effect on copper transport activity; mutation S->F,D,E: Altered copper-induced relocalization.
- S657 (≠ R123) to R: in WD; uncertain significance; dbSNP:rs372436901
- M665 (= M132) to I: in WD; uncertain significance; dbSNP:rs72552259
- Y-M 670:671 (≠ LSV 137:139) natural variant: Missing (in WD; uncertain significance)
- G710 (vs. gap) to S: in WD; decreased copper transport activity; no effect on ATPase activity; dbSNP:rs137853285
- R723 (≠ K181) natural variant: R -> G
- M729 (= M187) to V: in WD; uncertain significance; dbSNP:rs773447981
- V731 (= V189) to A: in WD; uncertain significance
- L732 (≠ P190) to H: in WD; uncertain significance; to P: in WD; uncertain significance
- T737 (≠ I195) to R: in WD; uncertain significance
- L745 (= L203) to P: in WD; uncertain significance; dbSNP:rs1362773192
- P760 (≠ A211) to L: in WD; decreased copper transport activity; increased ATPase activity; dbSNP:rs766907687
- D765 (= D216) to H: in WD; uncertain significance; dbSNP:rs28942075; to N: in WD; decreased copper transport activity; increased ATPase activity; decreased localization to TGN and reduced capacity to redistribute to cytoplasmic vesicles under high-copper levels; dbSNP:rs28942075
- M769 (≠ S220) to V: in WD; possible decreased copper transport activity; increased ATPase activity; dbSNP:rs193922103
- L776 (≠ A227) to V: in WD; uncertain significance; no effect on copper transport activity; decreased localization to TGN and reduced capacity to redistribute to cytoplasmic vesicles under high-copper levels; dbSNP:rs1217463955
- R778 (= R229) to L: in WD; most common mutation; decreased copper transport activity; extensively localized throughout the cell in the distribution pattern of the endoplasmic reticulum; dbSNP:rs28942074; to Q: in WD; decreased copper transport activity; dbSNP:rs28942074
- T788 (≠ A239) to I: in WD; decreased copper ion transmembrane transporter activity; dbSNP:rs541408630
- L795 (= L246) to F: in WD; uncertain significance; dbSNP:rs751710854
- V825 (vs. gap) natural variant: V -> L
- R827 (vs. gap) to P: in WD; uncertain significance; dbSNP:rs368589213; to W: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs539585071
- K832 (≠ R277) to R: decreased copper transport activity; no effect on ATPase activity; dbSNP:rs1061472
- G836 (= G281) to E: in WD; uncertain significance; dbSNP:rs773809011
- P840 (= P285) to L: in WD; decreased copper transport activity; increased ATPase activity; dbSNP:rs768671894
- I857 (≠ L302) to T: in WD; decreased copper transport activity; increased ATPase activity; dbSNP:rs1057520235
- T858 (= T303) to A: in WD; uncertain significance
- V864 (= V309) natural variant: V -> I
- A874 (= A319) to P: in WD; uncertain significance; dbSNP:rs376355660; to V: in WD; decreased copper transport activity; increased ATPase activity; decreased localization to the TGN; dbSNP:rs121907994
- G875 (= G320) to R: individuals heterozygous for Wilson disease mutations on the R-875 background may manifest the disease phenotype under conditions of copper deficiency; affects protein folding; localized to the ER and absent from TGN under low copper conditions; in response to high copper levels it relocalizes to vesicles and properly cycle back to TGN; dbSNP:rs587783304
- G891 (= G336) to D: in WD; uncertain significance; dbSNP:rs483352684
- I899 (≠ M344) to F: in WD; uncertain significance
- 899:907 (vs. 344:352, 33% identical) natural variant: Missing (in WD; uncertain significance)
- S921 (≠ A366) to R: in WD; uncertain significance; dbSNP:rs1052485948
- I929 (≠ H374) to V: in dbSNP:rs534960245
- T933 (≠ A378) to P: in WD; uncertain significance; dbSNP:rs1555288410
- L936 (≠ G381) to V: in WD; uncertain significance; dbSNP:rs367855110
- G943 (vs. gap) to S: in WD; no effect on copper transport activity; normally localized to TGN network but unable to redistribute to cytoplasmic vesicles in response to copper; dbSNP:rs28942076
- R952 (vs. gap) to K: in dbSNP:rs732774
- R969 (= R392) to Q: in WD; decreased copper transport activity; increased ATPase activity; no effect on localization; dbSNP:rs121907996; to W: in WD; uncertain significance; dbSNP:rs774028495
- T977 (≠ A400) to M: in WD; loss of copper transport activity; dbSNP:rs72552255
- C980 (≠ I403) to Y: in WD; uncertain significance; dbSNP:rs1038582488
- A982 (≠ T405) to T: in WD; uncertain significance; dbSNP:rs750407121; to V: in WD; uncertain significance; dbSNP:rs1487547257
- L987 (= L410) to P: in WD; uncertain significance
- A990 (= A413) to P: in WD; uncertain significance
- T991 (≠ V414) to M: in WD; yeast complementation assays show that the variant mildly rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs41292782
- P992 (= P415) to L: in WD; common mutation; decreased copper transport activity; no effect on ATPase activity; dbSNP:rs201038679
- V995 (= V418) to A: in WD; uncertain significance; no effect on copper transport activity; dbSNP:rs777791532
- G1000 (= G423) to R: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs751078884
- K1010 (= K433) to E: in WD; uncertain significance; dbSNP:rs1414727042; to R: in WD; uncertain significance; dbSNP:rs747584649; to T: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs747584649
- G1012 (= G435) to R: in WD; uncertain significance; to V: in WD; uncertain significance; dbSNP:rs772089544
- M1017 (≠ R440) to I: in WD; uncertain significance; dbSNP:rs755851188
- I1021 (≠ V444) to V: in WD; uncertain significance; dbSNP:rs776490710
- V1024 (= V447) to A: in WD; uncertain significance; dbSNP:rs1416453532
- D1027 (= D450) mutation to A: Loss of copper transport activity.
- T1031 (= T454) to A: in WD; uncertain significance; mutation to S: Decreased copper transport activity with no effect on ATPase activity.
- V1036 (≠ Q459) to I: in WD; copper ion transmembrane transporter activity; dbSNP:rs761147984
- R1041 (vs. gap) to W: in WD; uncertain significance; no effect on copper transport activity; dbSNP:rs746485916
- L1043 (vs. gap) to P: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs1412025509
- P1052 (≠ A469) to L: in WD; loss of copper transport activity; no effect on ATPase activity; dbSNP:rs778543794
- A1058 (= A474) to V: in WD; uncertain significance
- E1064 (≠ A480) to A: in WD; does not bind ATP; the mutant is stable and is properly targeted to the TGN; dbSNP:rs374094065; to K: in WD; loss of copper transport activity; loss of ATPase activity; dbSNP:rs376910645
- E1068 (≠ A484) to G: in WD; common mutation; dbSNP:rs1555286478
- H1069 (= H485) to Q: in WD; common mutation; decreased copper transport activity; loss of ATPase activity; cannot form an acylphosphate intermediate during catalysis; does not alter the folding of the nucleotide-binding domain; decreased stability; does not localize to late endosomes; dbSNP:rs76151636; mutation H->A,C: Loss of ATPase activity. Cannot form an acylphosphate intermediate during catalysis. Does not alter folding of the nucleotide-binding domain.
- P1070 (= P486) to S: in WD; uncertain significance; dbSNP:rs1423701688
- A1074 (= A490) to V: in WD; uncertain significance; dbSNP:rs1206016866
- L1083 (≠ A499) to F: in WD; decreased copper transport activity; no effect on ATPase activity; decreased localization to the TGN; dbSNP:rs1286080173
- C1091 (vs. gap) to Y: in WD; uncertain significance; dbSNP:rs778825095
- G1101 (= G513) to R: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs786204483
- I1102 (vs. gap) to T: in WD; yeast complementation assays show that the variant intermediately rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs560952220
- V1106 (vs. gap) to D: in WD; marked impairment in copper transport; dbSNP:rs775541743; to I: in WD; uncertain significance; dbSNP:rs541208827
- V1109 (= V514) to M: in dbSNP:rs759109027
- L1113 (vs. gap) to M: in WD; uncertain significance
- E1136 (≠ A534) to K: in WD; uncertain significance
- V1140 (= V538) to A: no effect on copper transport activity; dbSNP:rs1801249
- T1143 (= T541) to N: in dbSNP:rs587783313
- I1148 (vs. gap) to T: in WD; yeast complementation assays show that the variant mildly rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs60431989
- G1149 (vs. gap) to E: in WD; uncertain significance
- R1151 (vs. gap) to C: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs755554442
- M1169 (vs. gap) to V: in WD; moderate impairment in copper transport; dbSNP:rs749085322
- E1173 (vs. gap) to G: in WD; yeast complementation assays show that the variant fully rescue iron-uptake deficiency of yeast mutant ccc2
- G1176 (= G546) to E: in WD; yeast complementation assays show that the variant mildly rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs1318758433
- T1178 (≠ A548) to A: in WD; uncertain significance; dbSNP:rs1387431334
- A1183 (vs. gap) to T: in WD; uncertain significance; no effect on copper transport activity
- G1186 (vs. gap) to S: in WD; uncertain significance; no effect on copper transport activity; dbSNP:rs786204547
- A1202 (= A563) to G: in WD; uncertain significance
- H1207 (≠ A568) to R: in dbSNP:rs7334118
- G1213 (= G574) to V: in WD; loss of copper transport activity; no effect on ATPase activity; dbSNP:rs1555284582
- D1222 (= D583) to V: in WD; decreased copper transport activity; loss of ATPase activity
- R1228 (≠ A589) to T: in WD; yeast complementation assays show that the variant fully rescue iron-uptake deficiency of yeast mutant ccc2
- V1239 (≠ Y600) to G: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs374628199
- V1243 (≠ C604) to L: in dbSNP:rs1277243795
- P1245 (= P606) to S: in dbSNP:rs587783316
- A1250 (= A611) to G: in WD; uncertain significance; dbSNP:rs372042739
- G1266 (= G627) to E: in WD; uncertain significance; dbSNP:rs1566444586; to V: in WD; decreased copper transport activity; loss of ATPase activity
- D1267 (= D628) to V: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2
- G1268 (= G629) to R: in WD; uncertain significance; dbSNP:rs1314712150
- N1270 (= N631) to S: in WD; loss of copper transport activity; increased ATPase activity; does not affect localization to late endosomes; dbSNP:rs121907990
- P1273 (≠ A634) to L: in WD; decreased copper transport activity; increased ATPase activity; dbSNP:rs758355520
- A1278 (= A639) to V: in WD; uncertain significance
- G1281 (≠ S642) to D: in WD; uncertain significance; dbSNP:rs755202606
- G1287 (≠ A648) to S: in WD; yeast complementation assays show that the variant mildly rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs762866453
- T1288 (≠ L649) to M: in WD; uncertain significance; dbSNP:rs373748155
- E1293 (≠ V654) to K: in WD; uncertain significance; dbSNP:rs776300396
- A1295 (≠ S656) to D: in WD; yeast complementation assays show that the variant does not rescue iron-uptake deficiency of yeast mutant ccc2; dbSNP:rs1340942427
- V1297 (≠ I658) to I: in dbSNP:rs148399850
- V1298 (= V659) to I: in WD; uncertain significance; dbSNP:rs753044473; to L: in WD; uncertain significance
- N1332 (= N693) to K: in WD; uncertain significance
Sites not aligning to the query:
- 14 A → D: in dbSNP:rs587783319
- 32 mutation Missing: Does not affect copper-induced relocalization.
- 37 F→A: Altered copper-induced relocalization.
- 39 mutation F->W,A: Altered copper-induced relocalization.; F→Y: Does not affect copper-induced relocalization.
- 40 D→A: Altered copper-induced relocalization.
- 41 N → S: in WD; affects copper-induced relocalization; the mutant is constitutively trafficked to the basolateral membrane instead of staying in the TGN under low copper conditions; does not affect interaction with COMMD1; dbSNP:rs201738967; N→A: Altered copper-induced relocalization.
- 42 V→A: Altered copper-induced relocalization.; V→I: Does not affect copper-induced relocalization.
- 43 G→A: Altered copper-induced relocalization.
- 44 Y → N: in WD; uncertain significance; dbSNP:rs1566605396; Y→F: Does not affect copper-induced relocalization.; mutation Y->W,A: Altered copper-induced relocalization.
- 45 E→A: Altered copper-induced relocalization.
- 69 binding
- 72 binding
- 85 G → V: in WD; decreased copper transport activity; decreased ATPase activity; increased interaction with COMMD1; decreased localization to trans-Golgi network; increased degradation; dbSNP:rs786204643
- 96 G → D: in dbSNP:rs1429553821
- 108 C → R: in WD; uncertain significance; dbSNP:rs1566603189
- 136 R → W: in WD; uncertain significance; dbSNP:rs557577836
- 148 R → W: in WD; uncertain significance; dbSNP:rs373762572
- 149 natural variant: V -> L
- 154 binding
- 157 binding ; C → F: in WD; uncertain significance; dbSNP:rs551275663
- 170 G → V: in WD; uncertain significance
- 268 binding
- 271 binding
- 290 natural variant: V -> L
- 370 binding
- 373 binding
- 382 S → C: in WD; uncertain significance; dbSNP:rs774102085
- 390 I → V: in dbSNP:rs770903362
- 406 S → A: no effect on copper transport activity; dbSNP:rs1801243
- 456 V → L: decreased copper transport rates; no effect on ATPase activity; dbSNP:rs1801244
- 486 A → S: in WD; uncertain significance; does not affect interaction with COMMD1; dbSNP:rs1282624946
- 492 L → S: in WD; decreased copper transport activity; decreased ATPase activity; does not affect interaction with COMMD1; dbSNP:rs1566580253
- 499 binding
- 502 binding
- 532 Y → H: in WD; uncertain significance; no effect on copper transport activity; does not affect interaction with COMMD1
- 536 V → A: in WD; likely benign; dbSNP:rs138427376
- 541 E → K: in WD; uncertain significance; does not affect interaction with COMMD1; dbSNP:rs187046823
- 549 L → P: in WD; uncertain significance
- 1347 G → S: in WD; uncertain significance; dbSNP:rs587783318
- 1369 S → L: in WD; uncertain significance; dbSNP:rs1555282678
- 1373 L → P: in WD; increased protein degradation; the mutant has a diffuse cytoplasmic localization pattern and is absent from TGN under conditions of low-copper levels; dbSNP:rs780811477; L → R: in WD; increased protein degradation; the mutant has a diffuse cytoplasmic localization pattern and is absent from TGN under conditions of low-copper levels; dbSNP:rs780811477
- 1375 C → S: in WD; uncertain significance; localized at the TGN as the wild-type under conditions of low-copper levels; dbSNP:rs1365425480
- 1379 P → S: in WD; uncertain significance; localized at the TGN as the wild-type under conditions of low-copper levels; dbSNP:rs181250704
- 1407 D → E: in dbSNP:rs587783320
- 1431 S → Y: in WD; uncertain significance
- 1432 S → F: in WD; uncertain significance; dbSNP:rs375692175
- 1434 T → M: in WD; uncertain significance; localized at the TGN as the wild-type under conditions of low-copper levels; dbSNP:rs60986317
7r0hA Structural basis of ion uptake in copper-transporting p1b-type atpases (see paper)
32% identity, 79% coverage: 155:729/729 of query aligns to 44:644/654 of 7r0hA
P38995 Copper-transporting ATPase; Cu(2+)-ATPase; EC 7.2.2.8 from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
28% identity, 78% coverage: 150:714/729 of query aligns to 302:936/1004 of P38995
Sites not aligning to the query:
P38360 P-type cation-transporting ATPase; Cadmium resistance protein 2; Cadmium-translocating P-type ATPase; Cd(2+)-exporting ATPase; EC 7.2.2.21 from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see 3 papers)
29% identity, 76% coverage: 150:700/729 of query aligns to 585:1179/1216 of P38360
- R970 (≠ G513) mutation to G: Confers localization to the plasma membrane and cadmium transport function.
Sites not aligning to the query:
- 298 C→A: Abolishes copper resistance but not cadmium resistance; when associated with A-300.
- 300 C→A: Abolishes copper resistance but not cadmium resistance; when associated with A-298.
- 311 C→A: Abolishes cadmium resistance yet retains the ability to confer copper resistance; when associated with A-312.
- 312 C→A: Abolishes cadmium resistance yet retains the ability to confer copper resistance; when associated with A-311.
P9WPT5 Manganese-exporting P-type ATPase; Cation-transporting P-type ATPase CtpC; Metal-transporting ATPase Mta72; EC 7.2.2.22 from Mycobacterium tuberculosis (strain ATCC 25618 / H37Rv) (see paper)
31% identity, 77% coverage: 167:728/729 of query aligns to 136:711/718 of P9WPT5
- H697 (≠ M714) mutation to A: Loss of ATPase activity.
- SS 700:701 (= SS 717:718) mutation to AA: Loss of ATPase activity.
Q3YW59 Zinc/cadmium/lead-transporting P-type ATPase; Zn(2+)/Cd(2+)/Pb(2+) export ATPase; EC 7.2.2.-; EC 7.2.2.12; EC 7.2.2.21 from Shigella sonnei (strain Ss046) (see paper)
29% identity, 98% coverage: 12:728/729 of query aligns to 25:728/732 of Q3YW59
- M187 (≠ I191) mutation to A: No change in ATPase activity and in zinc binding.
- E202 (≠ D216) mutation to A: Lack of ATPase activity and decrease in zinc binding.; mutation to D: Lack of ATPase activity.; mutation to Q: Strong decrease in ATPase activity.
- F210 (= F224) mutation to A: Decrease in ATPase activity and slight decrease in zinc binding.
- E214 (≠ R229) mutation E->A,Q: Decrease in ATPase activity.
- Y354 (= Y369) mutation Y->A,F: Decrease in ATPase activity.
- D436 (= D450) binding ; mutation to N: Lack of ATPase activity.
- T438 (= T452) binding
- D628 (= D628) binding
- K693 (≠ N693) mutation to A: Lack of ATPase activity but does not affect zinc binding.; mutation to R: Lack of ATPase activity.
- D714 (≠ M714) mutation to E: Strong decrease in ATPase activity.; mutation to N: Lack of ATPase activity and strong decrease in zinc binding.
P37617 Zinc/cadmium/lead-transporting P-type ATPase; Pb(II)/Cd(II)/Zn(II)-translocating ATPase; Zn(2+)/Cd(2+)/Pb(2+) export ATPase; EC 7.2.2.-; EC 7.2.2.12; EC 7.2.2.21 from Escherichia coli (strain K12) (see 4 papers)
29% identity, 98% coverage: 12:728/729 of query aligns to 25:728/732 of P37617
- D58 (≠ H46) binding
- C59 (= C47) binding
- CAAC 59:62 (≠ CASC 47:50) mutation to AAAA: 2-3-fold decrease in ATPase activity. Binds metal ion only at the transmembrane site.; mutation to SAAS: Reduces the ATPase activity by 50%. Reduces level of phosphorylation.
- C62 (= C50) binding
- C392 (= C406) mutation to A: Lack of activity. Cannot bind metal at the transmembrane site. Lack of phosphorylation with ATP.; mutation C->H,S: Decrease in activity. Binds Zn(2+), Cd(2+), Ni(2+), Co(2+) and Cu(2+), but not Pb(2+).
- CPC 392:394 (= CPC 406:408) mutation to APA: Lack of ATPase activity. Binds metal ion only at the N-terminal site.; mutation to SPS: Lack of ATPase activity. Loss of zinc-stimulated phosphorylation.
- P393 (= P407) mutation to A: Lack of activity with any metal. Cannot bind metal at the transmembrane site. Lack of phosphorylation with ATP.
- C394 (= C408) mutation to A: Lack of activity. Cannot bind metal at the transmembrane site. Lack of phosphorylation with ATP.; mutation C->H,S: Decrease in activity. Binds Zn(2+), Cd(2+), Ni(2+), Co(2+) and Cu(2+), but not Pb(2+).
- K693 (≠ N693) mutation to N: Loss of zinc-stimulated ATPase activity. Poorly phosphorylated with ATP.
- D714 (≠ M714) mutation to M: Shows high metal-independent ATPase activity. Poorly phosphorylated with ATP.
Query Sequence
>3607252 FitnessBrowser__Dino:3607252
MSDLSAHSLGPSANSACPACAAAPLAEQLSKRPVRGGIVLSLPGIHCASCISGVERLLDA
TPGVVGARVNLTRKRVLIDAEEGITPEALAQLLTDKGFEAYELDPGQLGNAEADRPARDL
LMRLAVSGFAMMNIMLLSVAVWSGAEAATRDMFHWISAAIAIPTIGFCAQPFFSNSWRAL
KAGRLNMDVPISLAILLAVGMSLYETANSGAHAYFDAAVSLTFFLLAGRYLDFRTRASAR
SAAQELAALEVPRAIKLVGGTEVKTVVADLAVGDLIRVTPGSRVPADGLVVDGVSELDRS
LLTGESLPVHAAPDTPVSAGEMNLTGVLTLRVTAAGQDSSLHRMAELVAVAENARSKYTS
LADKAAGLYAPGVHILAALTGLGWMLYSMDLRLSLNIASAVLIITCPCALGLAVPAVVTA
ASGRLFRRGLLIKSGTALERLAEVDEVVFDKTGTLTLGQPILENADRIAARDLAVARALA
QGSAHPLARAIAATDAGGASAEVTELREVPGYGVEGRWQDQPVRLGRADWVGAAQGDVTA
TWLRIGQAAPVAFEFKDALRPGAAEAVAALQARGLKVSLLSGDAPGAVARVARELGITDY
RAECRPEEKAAHVTARGEAGYKVLMVGDGLNDTAALAAAHASVSPASALDAARVASDIVL
LGQDLSPLADMLQTARKSTKLIRENFTISTVYNVVAVPLAIAGLATPLIAALAMSVSSIT
VSLNALRVR
Or try a new SitesBLAST search
SitesBLAST's Database
SitesBLAST's database includes
(1) SwissProt
entries with experimentally-supported functional features;
and (2) protein structures with bound ligands, from the
BioLip database.
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory