SitesBLAST
Comparing BWI76_RS24735 FitnessBrowser__Koxy:BWI76_RS24735 to proteins with known functional sites using BLASTp with E ≤ 0.001.
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Found 15 hits to proteins with known functional sites (download)
P0AA76 D-galactonate transporter; D-galactonate/H(+) symporter from Escherichia coli (strain K12) (see paper)
25% identity, 92% coverage: 8:406/433 of query aligns to 14:417/430 of P0AA76
- Y29 (= Y23) binding
- D31 (≠ T25) mutation to N: Loss of galactonate transport activity.
- R32 (= R26) binding
- Y64 (= Y58) binding
- E118 (= E112) mutation to Q: Loss of galactonate transport activity.
- W358 (≠ I347) binding
6e9nA E. Coli d-galactonate:proton symporter in the inward open form (see paper)
26% identity, 92% coverage: 8:406/433 of query aligns to 3:398/409 of 6e9nA
6e9oA E. Coli d-galactonate:proton symporter mutant e133q in the outward substrate-bound form (see paper)
25% identity, 92% coverage: 8:406/433 of query aligns to 6:382/393 of 6e9oA
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)
23% identity, 82% coverage: 12:367/433 of query aligns to 62:440/495 of Q9NRA2
- K136 (= K75) 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 (≠ L120) 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 (≠ AV 135:136) mutation to AA: Localizes in vesicular structures mainly concentrated in the perinuclear region.
- IL 266:267 (≠ II 202:203) mutation to LA: Localizes in vesicular structures mainly concentrated in the perinuclear region.
- SSLRN 268:272 (≠ ESHHQ 207:211) 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 (≠ A266) 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 (= P272) 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 (= G309) 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
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)
23% identity, 79% coverage: 25:367/433 of query aligns to 80:440/495 of Q8BN82
- H183 (≠ L120) 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.
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)
24% identity, 82% coverage: 12:367/433 of query aligns to 62:440/495 of Q5Q0U0
- K136 (= K75) mutation to E: Markedly decreases H(+)-coupled sialic acid transporter activity.
- R168 (= R105) mutation to C: Abolishes H(+)-coupled sialic acid transporter activity.
- E171 (≠ V108) mutation to C: Decreases H(+)-coupled sialic acid transporter activity; when associated with C-175.
- G172 (= G109) mutation to C: Decreases protein levels and alters subcellular localization.
- E175 (= E112) mutation to C: Decreases H(+)-coupled sialic acid transporter activity; when associated with C-171.
- G176 (≠ A113) mutation to C: Decreases protein levels and alters subcellular localization.
- F179 (≠ I116) mutation to C: Decreases the affinity and transport rate for D-glucuronate. Does not affect H(+)-coupled sialic acid transporter activity.
- P180 (= P117) mutation to C: Decreases protein levels and alters subcellular localization.
- H183 (≠ L120) mutation to R: Abolishes H(+)-coupled sialic acid transporter activity.
- W186 (≠ S123) mutation to C: Abolishes H(+)-coupled sialic acid transporter activity.
- SSLKN 268:272 (≠ GGQES 204:208) mutation Missing: Abolishes H(+)-coupled sialic acid transporter activity.
- P334 (= P272) mutation to R: Abolishes H(+)-coupled sialic acid transporter activity.
- G371 (= G309) 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.
Q03567 Uncharacterized transporter slc-17.2 from Caenorhabditis elegans (see paper)
27% identity, 54% coverage: 101:333/433 of query aligns to 139:381/493 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)
24% identity, 76% coverage: 98:428/433 of query aligns to 177:513/582 of Q9JI12
- R184 (= R105) mutation R->A,E,K: Greatly lowers L-glutamate transport.
- E191 (= E112) mutation to A: Greatly lowers L-glutamate transport.; mutation E->D,Q: Lowers L-glutamate transport.
- R322 (≠ A239) 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)
27% identity, 55% coverage: 109:344/433 of query aligns to 130:371/452 of 7t3nA
Sites not aligning to the query:
P53322 High-affinity nicotinic acid transporter; Nicotinic acid permease from Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) (see paper)
20% identity, 55% coverage: 2:237/433 of query aligns to 83:327/534 of P53322
- K283 (≠ E196) modified: Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Q9C0U9 Uncharacterized transporter PB1C11.03 from Schizosaccharomyces pombe (strain 972 / ATCC 24843) (Fission yeast) (see paper)
25% identity, 45% coverage: 36:229/433 of query aligns to 128:321/570 of Q9C0U9
Sites not aligning to the query:
- 14 modified: Phosphoserine
Q9Y2C5 Probable small intestine urate exporter; Solute carrier family 17 member 4 from Homo sapiens (Human) (see 2 papers)
21% identity, 57% coverage: 65:312/433 of query aligns to 128:377/497 of Q9Y2C5
- A372 (≠ T307) 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.
Q8IVW8 Sphingosine-1-phosphate transporter SPNS2; Protein spinster homolog 2 from Homo sapiens (Human) (see 2 papers)
23% identity, 56% coverage: 13:256/433 of query aligns to 106:342/549 of Q8IVW8
- R200 (= R105) mutation to S: Loss of function; does not rescue the cardia bifida phenotype in the morpholino knockdown in zebrafish.
- S319 (≠ A233) natural variant: Missing (in DFNB115; uncertain significance; dbSNP:rs749994718)
P34711 Vesicular acetylcholine transporter unc-17; Uncoordinated protein 17 from Caenorhabditis elegans (see paper)
23% identity, 94% coverage: 23:430/433 of query aligns to 84:475/532 of P34711
- C230 (≠ S174) mutation to F: In p1160; severely uncoordinated.
- G347 (= G320) mutation to A: In e245; severely uncoordinated.
8jhqA Cryo-em structure of human s1p transporter spns2 bound with s1p (see paper)
22% identity, 56% coverage: 13:256/433 of query aligns to 12:247/446 of 8jhqA
Sites not aligning to the query:
Query Sequence
>BWI76_RS24735 FitnessBrowser__Koxy:BWI76_RS24735
MRKIKGLRWYMIALVTLGTVLGYLTRNTVAAAAPTLMEELHISTQQYSYIIAAYSAAYTV
MQPVAGYVLDVLGTKIGYAFFAIAWAVFCGSTALAGSWGGLALARGAVGAAEAAMIPAGL
KASSEWFPAKERSIAVGYFNVGSSIGAMIAPPLVVWAIVMHSWQMAFIISGVLSFAWAMA
WLVFYKHPRDQKKLTEEERNYIIGGQESHHQTNNGKKMSPWQILRNRQFWGIALPRFLAE
PAWGTFNAWIPLFMFKVYGFNLKEIAMFAWMPMLFADLGCIVGGYLPPLFQRWFGVNLIV
SRKMVVTMGALLMIGPGMIGLFTSPFVAIALLCVGGFAHQALSGALITLSSDVFGRNEVA
TANGMTGMAAWLASTMFALVVGALADTIGFSPLFAVLAVFDVLGAVVIWTVLKNKSADDD
STPLETSKPATQS
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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