SitesBLAST
Comparing CA265_RS21920 FitnessBrowser__Pedo557:CA265_RS21920 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 4 hits to proteins with known functional sites (download)
8jl1A Membrane proteins
29% identity, 79% coverage: 10:315/386 of query aligns to 141:475/527 of 8jl1A
- binding acetyl coenzyme *a: R146 (= R15), M153 (= M22), N157 (= N26), V180 (≠ I52), F181 (= F53), F184 (= F56), S191 (= S63), S195 (≠ A67), K212 (= K84), R216 (= R88), V247 (= V127), L251 (≠ I131), S471 (≠ A311), I472 (= I312)
Sites not aligning to the query:
8jl4A Membrane proteins
29% identity, 79% coverage: 10:315/386 of query aligns to 147:481/533 of 8jl4A
- binding cholesterol: L307 (vs. gap), P309 (= P169)
- binding coenzyme a: V148 (≠ L11), D149 (= D12), R152 (= R15), M159 (= M22), F187 (= F53), F190 (= F56), M194 (≠ V60), S197 (= S63), S201 (≠ A67), K218 (= K84), R222 (= R88), V253 (= V127), L257 (≠ I131), S477 (≠ A311), Y481 (≠ F315)
- binding ~{N}-[(2~{S},3~{R},4~{R},5~{S},6~{R})-6-(hydroxymethyl)-2-[[(2~{R},4~{R})-4-methyl-2-oxidanyl-3,4-dihydro-2~{H}-chromen-7-yl]oxy]-4,5-bis(oxidanyl)oxan-3-yl]ethanamide: N163 (= N26), Y164 (≠ N27), H174 (= H40), R249 (= R123), E369 (= E208), K433 (= K266)
Sites not aligning to the query:
- binding coenzyme a: 144, 145, 532
- binding ~{N}-[(2~{S},3~{R},4~{R},5~{S},6~{R})-6-(hydroxymethyl)-2-[[(2~{R},4~{R})-4-methyl-2-oxidanyl-3,4-dihydro-2~{H}-chromen-7-yl]oxy]-4,5-bis(oxidanyl)oxan-3-yl]ethanamide: 484, 485, 488
Q68CP4 Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76; EC 2.3.1.78 from Homo sapiens (Human) (see 10 papers)
28% identity, 80% coverage: 7:315/386 of query aligns to 267:611/663 of Q68CP4
- G290 (≠ S30) to R: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- H297 (= H40) active site; mutation to A: Loss of enzymatic activity, but correctly targeted and processed.
- N301 (= N44) to K: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
- P311 (= P54) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- C333 (≠ T76) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
- R372 (= R123) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; to H: in MPS3C; retained in the endoplasmic reticulum; loss of enzymatic activity
- C402 (vs. gap) mutation to S: No loss of intralysosomal proteolytic cleavage and enzymatic activity.
- W431 (= W162) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- G452 (vs. gap) to S: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; to V: in MPS3C; shows practically no enzyme activity
- C462 (≠ L178) mutation to S: Complete loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
- L473 (≠ G191) to P: in MPS3C; shows practically no enzyme activity
- H479 (= H197) mutation to A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
- E499 (= E208) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- V509 (≠ G218) to L: in MPS3C; likely benign; no loss of enzymatic activity
- M510 (≠ T219) to K: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- G514 (= G223) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- A517 (≠ V226) to E: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- S546 (= S251) to F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- K551 (≠ L256) to Q: in MPS3C; likely benign; no loss of enzymatic activity; dbSNP:rs73569592
- S567 (≠ T270) to C: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- S569 (= S272) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
- D590 (= D293) to V: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
- P599 (= P303) to L: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity
Sites not aligning to the query:
- 82 A → V: in MPS3C; shows practically no enzyme activity
- 104 C → F: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum; loss of intralysosomal proteolytic cleavage
- 107 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
- 141 L → P: in MPS3C; shows practically no enzyme activity
- 142 modified: carbohydrate, N-linked (GlcNAc...) asparagine
- 151 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity. Reduced oligomer formation.
- 165 L → P: in MPS3C; results in a negligible amount of protein synthesis; very low enzyme activity; retained in the endoplasmic reticulum
- 179 C→S: Loss of intralysosomal proteolytic cleavage and enzymatic activity.
- 236 L→A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-209.
- 237 I→A: Displayed both lysosomal and plasma membrane localization, reduced intralysosomal proteolytic cleavage and enzymatic activity; when associated with A-208.
- 265 P → Q: in MPS3C; likely benign; does not influence stability; does not influence activity; does not influence cellular localization of the enzyme
- 633 H→A: Loss of intralysosomal proteolytic cleavage and enzymatic activity, retained in the endoplasmic reticulum.
- 643 A → T: in RP73 and MPS3C; uncertain significance; may act as a modifier of disease severity in patients with retinitis pigmentosa; has a negligible effect on the enzyme expression; moderately reduced enzyme activity; dbSNP:rs112029032
Q3UDW8 Heparan-alpha-glucosaminide N-acetyltransferase; Transmembrane protein 76; EC 2.3.1.78 from Mus musculus (Mouse) (see paper)
27% identity, 80% coverage: 6:315/386 of query aligns to 259:604/656 of Q3UDW8
Sites not aligning to the query:
- 157 modified: carbohydrate, N-linked (GlcNAc...) asparagine
Query Sequence
>CA265_RS21920 FitnessBrowser__Pedo557:CA265_RS21920
MTEPKQRLLSLDFFRGLTVAAMILVNNPGSWGHIYAPLEHAEWNGCTPTDLIFPFFLWIV
GVSIAFAMSSSKTDPTTHQKTIIKAIKRGIILYLLGFFLAIFGKIISAIIDGRSIWEAFQ
TVRLLGVLQRIGIVFIISSIIFIKVSNKTIFKTLIVILAVYWALMTFIPVPGVGYPNLEK
ETNLAAWIDRGILTEAHTWASSKTWDPEGILSTLPAIGTCLFGILVGVWMRRKDVDNPTK
VAWLFTTGITSVILGLLWDLQFPINKALWTSSYVLYAGGLASIGLALCYWIIDVQGYKKF
TTPFVVYGVNAITVFFLAGLMPRVLNLIQITKPDGTKTGLLVRFYETCYTPFFSPINASL
VWAITYVLGFYVLLYFMYKKNIIIKV
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