SitesBLAST
Comparing BPHYT_RS24120 FitnessBrowser__BFirm:BPHYT_RS24120 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 12 hits to proteins with known functional sites (download)
6e9nA E. Coli d-galactonate:proton symporter in the inward open form (see paper)
25% identity, 95% coverage: 7:416/430 of query aligns to 3:409/409 of 6e9nA
P0AA76 D-galactonate transporter; D-galactonate/H(+) symporter from Escherichia coli (strain K12) (see paper)
25% identity, 95% coverage: 7:416/430 of query aligns to 14:428/430 of P0AA76
- Y29 (= Y22) binding
- D31 (≠ A24) mutation to N: Loss of galactonate transport activity.
- R32 (= R25) binding
- Y64 (= Y57) binding
- E118 (= E111) mutation to Q: Loss of galactonate transport activity.
- W358 (≠ Y346) binding
6e9oA E. Coli d-galactonate:proton symporter mutant e133q in the outward substrate-bound form (see paper)
25% identity, 95% coverage: 7:416/430 of query aligns to 6:393/393 of 6e9oA
Q8BN82 Sialin; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; AST; Solute carrier family 17 member 5; Vesicular excitatory amino acid transporter; VEAT from Mus musculus (Mouse) (see paper)
27% identity, 62% coverage: 99:366/430 of query aligns to 163:440/495 of Q8BN82
- H183 (≠ V119) mutation to R: Abolishes sialic acid transporter activity. Does not affect L-aspartate and L-glutamate transporter activity.
Sites not aligning to the query:
- 39 R→C: Completely abolishes L-aspartate and L-glutamate transporter activity. Retains appreciable H(+)-coupled sialic acid transporter activity.
Q9NRA2 Sialin; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; AST; Membrane glycoprotein HP59; Solute carrier family 17 member 5; Vesicular excitatory amino acid transporter; VEAT from Homo sapiens (Human) (see 8 papers)
26% identity, 72% coverage: 57:367/430 of query aligns to 119:424/495 of Q9NRA2
- K136 (= K74) to E: in SD; alters intracellular localization, only partially targeted to lysosomes and mainly detected in LAMP1-negative vesicles and in the Golgi apparatus; completely devoid of L-aspartate and L-glutamate transporter activity, but retains appreciable H(+)-coupled sialic acid transporter activity; dbSNP:rs80338795
- H183 (≠ V119) to R: in ISSD; alters intracellular localization, only partially targeted to lysosomes and mainly detected in LAMP1-negative vesicles and in the Golgi apparatus; abolishes H(+)-coupled sialic acid transporter activity; has normal L-aspartate and L-glutamate transporter activity; dbSNP:rs119491109
- LL 198:199 (≠ AI 134:135) mutation to AA: Localizes in vesicular structures mainly concentrated in the perinuclear region.
- IL 266:267 (= IL 201:202) mutation to LA: Localizes in vesicular structures mainly concentrated in the perinuclear region.
- SSLRN 268:272 (≠ SGQEA 203:207) natural variant: Missing (in ISSD; alters intracellular localization, only partially targeted to lysosomes and mainly detected in LAMP1-negative vesicles and in the Golgi apparatus; abolishes H(+)-coupled sialic acid transporter activity; has normal L-aspartate and L-glutamate transporter activity)
- G328 (≠ A265) to E: in ISSD; some patients may manifest a milder phenotype consistent with Salla disease; markedly decreases H(+)-coupled sialic acid transporter activity; abolishes L-aspartate and L-glutamate transporter activity; dbSNP:rs386833996
- P334 (= P271) to R: in ISSD; does not affect intracellular localization, targeted to lysosomes; abolishes H(+)-coupled sialic acid transporter activity; abolishes L-aspartate and L-glutamate transporter activity; dbSNP:rs119491110
- G371 (= G308) to V: in ISSD; abolishes H(+)-coupled sialic acid transporter activity; abolishes L-aspartate and L-glutamate transporter activity; dbSNP:rs777862172
Sites not aligning to the query:
- 22:23 Dileucine internalization motif; LL→AA: Targeted to plasma membrane.; LL→GG: Targeted to plasma membrane; sialic acid uptake strongly activated at acidic pH.
- 39 R → C: in SD; frequent variant in Finland; alters intracellular localization, only partially targeted to lysosomes and mainly detected in LAMP1-negative vesicles and in the Golgi apparatus; completely devoid of L-aspartate and L-glutamate transport activity, but retains appreciable H(+)-coupled sialic acid and nitrate transporter activity; dbSNP:rs80338794
Q5Q0U0 Sialin; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; AST; Solute carrier family 17 (Anion/sugar transporter), member 5; Vesicular excitatory amino acid transporter; VEAT from Rattus norvegicus (Rat) (see 2 papers)
27% identity, 62% coverage: 99:366/430 of query aligns to 163:440/495 of Q5Q0U0
- R168 (= R104) mutation to C: Abolishes H(+)-coupled sialic acid transporter activity.
- E171 (≠ L107) mutation to C: Decreases H(+)-coupled sialic acid transporter activity; when associated with C-175.
- G172 (= G108) mutation to C: Decreases protein levels and alters subcellular localization.
- E175 (= E111) mutation to C: Decreases H(+)-coupled sialic acid transporter activity; when associated with C-171.
- G176 (≠ A112) mutation to C: Decreases protein levels and alters subcellular localization.
- F179 (≠ I115) mutation to C: Decreases the affinity and transport rate for D-glucuronate. Does not affect H(+)-coupled sialic acid transporter activity.
- P180 (= P116) mutation to C: Decreases protein levels and alters subcellular localization.
- H183 (≠ V119) mutation to R: Abolishes H(+)-coupled sialic acid transporter activity.
- W186 (≠ T122) mutation to C: Abolishes H(+)-coupled sialic acid transporter activity.
- SSLKN 268:272 (≠ SGQEA 203:207) mutation Missing: Abolishes H(+)-coupled sialic acid transporter activity.
- P334 (= P271) mutation to R: Abolishes H(+)-coupled sialic acid transporter activity.
- G371 (= G308) mutation to V: Remains in the endoplasmic reticulum.
Sites not aligning to the query:
- 22:23 Dileucine internalization motif; LL→AA: Targeted to plasma membrane; sialic acid uptake strongly activated at acidic pH.
- 39 R→C: Markedly decreases H(+)-coupled sialic acid transporter activity.
- 136 K→E: Markedly decreases H(+)-coupled sialic acid transporter activity.
Q9Y2C5 Probable small intestine urate exporter; Solute carrier family 17 member 4 from Homo sapiens (Human) (see 2 papers)
26% identity, 63% coverage: 58:326/430 of query aligns to 121:388/497 of Q9Y2C5
- A372 (≠ V306) to T: in dbSNP:rs11754288
Sites not aligning to the query:
- 66 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→A: Loss of glycosylation and significant reduction in the transport of thyroid hormones T3 and T4; when associated with A-75 and A-90.
- 75 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→A: Loss of glycosylation and significant reduction in the transport of thyroid hormones T3 and T4; when associated with A-66 and A-90.
- 90 modified: carbohydrate, N-linked (GlcNAc...) asparagine; N→A: Loss of glycosylation and significant reduction in the transport of thyroid hormones T3 and T4; when associated with A-75 and A-90.
Q03567 Uncharacterized transporter slc-17.2 from Caenorhabditis elegans (see paper)
27% identity, 54% coverage: 95:325/430 of query aligns to 134:366/493 of Q03567
Sites not aligning to the query:
- 69 modified: carbohydrate, N-linked (GlcNAc...) asparagine
Q9JI12 Vesicular glutamate transporter 2; VGluT2; Differentiation-associated BNPI; Differentiation-associated Na(+)-dependent inorganic phosphate cotransporter; Solute carrier family 17 member 6 from Rattus norvegicus (Rat) (see 2 papers)
26% identity, 47% coverage: 102:304/430 of query aligns to 182:388/582 of Q9JI12
- R184 (= R104) mutation R->A,E,K: Greatly lowers L-glutamate transport.
- E191 (= E111) mutation to A: Greatly lowers L-glutamate transport.; mutation E->D,Q: Lowers L-glutamate transport.
- R322 (≠ S238) mutation to A: Loss of L-glutamate release. Abolishes the chloride ion conductance.
Sites not aligning to the query:
- 88 R→A: Impairs synaptic transmission. Abolishes the chloride ion conductance.
- 128 H→A: Greatly lowers L-glutamate transport.
7t3nA R184q/e191q mutant of rat vesicular glutamate transporter 2 (vglut2)
25% identity, 47% coverage: 102:304/430 of query aligns to 124:330/452 of 7t3nA
Sites not aligning to the query:
Q9GQQ0 Protein spinster; Protein benchwarmer; Protein diphthong from Drosophila melanogaster (Fruit fly) (see paper)
24% identity, 52% coverage: 7:231/430 of query aligns to 113:332/605 of Q9GQQ0
- E217 (= E111) mutation to K: In bnch(N); leads to storage in yolk spheres during oogenesis and results in widespread accumulation of enlarged lysosomal and late endosomal inclusions.
P0AGC0 Hexose-6-phosphate:phosphate antiporter from Escherichia coli (strain K12) (see paper)
21% identity, 93% coverage: 13:411/430 of query aligns to 34:441/463 of P0AGC0
- C108 (= C88) mutation to S: No change in activity.
- C143 (≠ A117) mutation to S: 30% of wild-type sugar phosphate transport activity.
- C265 (≠ G232) mutation to S: No change in activity.
- C331 (≠ S323) mutation to S: No change in activity.
- C436 (≠ V406) mutation to S: No change in activity.
- C438 (= C408) mutation to S: No change in activity.
Query Sequence
>BPHYT_RS24120 FitnessBrowser__BFirm:BPHYT_RS24120
MKIKGIRWWMVSLVAAGLIINYLARNTLSVAAPALMKDLHITTEQYAHVVVAWQLCYAFM
QPVAGFLLDTVGTKIGFAAFALAWSLACAAAAWSTGWRSLAFFRGLLGIAEAAGIPAGVK
ATSEWFPAKERSVAIGWFNIGSSIGALLAPPLVVWALLHGEWQLAFVIVGVAGIVWSVLW
MALYKHPRNQKLLGDAERDYILSGQEAKHSDAGAAKRNWIAMLGSRDFWAIGIPRILSEP
AWQTFNAWIPLYMMTERHMNLKEVALYAWMPFLAADIGCVLGGYLSPLFHKYAKVSLFTS
RKMVFVVGALFMIGPACVGLVASPYVAVALLCVGGFAHQTLSGALYAITSDMFGKNEVAT
ATGMGGMAGYLGAAAFTALFGVLVTQIGYSPLFVVLAVFDIIAAGVVCLLAKSADKTPEP
RWTPASAVVK
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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