Q9H3U5
PR
Gene name |
MFSD1 (SMAP4, UG0581B09) |
Protein name |
Major facilitator superfamily domain-containing protein 1 |
Names |
Smooth muscle cell-associated protein 4, SMAP-4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64747 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9H3U5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H3U5-F1 | Predicted | AlphaFoldDB |
362 variants for Q9H3U5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs745583986 CA2683410 |
4 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86526484 rs201129856 |
5 | D>E | No |
ClinGen Ensembl |
|
|
CA355183144 rs1317616535 |
5 | D>N | No |
ClinGen gnomAD |
|
|
CA86526512 rs969751515 |
8 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355183206 rs969751515 |
8 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1231852068 CA355183244 |
9 | R>L | No |
ClinGen gnomAD |
|
|
rs1231852068 CA355183230 |
9 | R>Q | No |
ClinGen gnomAD |
|
|
CA355183267 rs1180716149 |
11 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355183334 rs1473124498 |
14 | G>S | No |
ClinGen gnomAD |
|
|
rs768128375 CA2683415 |
15 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355183391 rs1408074943 CA355183396 |
17 | D>E | No |
ClinGen gnomAD |
|
|
rs761322174 CA2683417 |
17 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2683420 rs763177310 |
18 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2683418 rs769367528 COSM3774682 |
18 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769367528 CA2683419 |
18 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683423 rs760186838 |
20 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683422 rs774689203 |
20 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2683424 rs368238181 |
21 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372510985 CA2683425 |
22 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1481823508 CA355183526 COSM1214990 |
23 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA86526645 rs28364680 |
24 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_030138 CA2683427 rs28364680 |
24 | P>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369613692 CA2683429 |
26 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2683431 rs746903597 |
27 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683430 rs779944108 |
27 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355183601 rs1164119216 |
28 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs560075419 CA2683432 |
31 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2683435 rs747610583 |
33 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683434 rs747610583 |
33 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86526742 rs914537137 |
35 | D>N | No |
ClinGen Ensembl |
|
|
CA2683437 rs371265696 |
36 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371265696 CA2683438 |
36 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774846111 CA2683439 |
38 | R>G | No |
ClinGen ExAC |
|
|
rs1052043065 CA86526778 |
38 | R>L | No |
ClinGen TOPMed |
|
|
rs947427991 CA355183804 |
39 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs947427991 CA86526779 |
39 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1464875744 CA355183845 |
42 | R>L | No |
ClinGen gnomAD |
|
|
CA2683441 rs768078065 |
46 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1274790404 CA355183909 |
48 | L>Q | No |
ClinGen gnomAD |
|
|
rs528627080 CA86526813 |
49 | M>K | No |
ClinGen 1000Genomes |
|
|
CA355183957 rs1200449232 |
52 | L>P | No |
ClinGen gnomAD |
|
|
CA86526823 rs943392631 |
52 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 53 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254681227 CA355184253 |
53 | G>S | No |
ClinGen gnomAD |
|
|
CA2683473 rs777576781 |
57 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2683474 rs753330181 |
60 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs912446648 CA86528211 |
61 | D>H | No |
ClinGen TOPMed |
|
|
CA2683475 rs146429777 |
65 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2683476 rs778666566 |
68 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745553928 CA2683478 |
69 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2683480 rs780620261 |
70 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2683481 rs747509407 |
72 | R>* | Variant assessed as Somatic; 0.0001396 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771278353 CA2683482 |
72 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559914506 CA355185058 |
74 | M>V | No |
ClinGen Ensembl |
|
|
rs765808469 CA86529250 |
77 | N>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355185127 rs140699673 |
79 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140699673 CA2683508 |
79 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2683510 rs760476615 |
82 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA355185148 rs1449559961 |
82 | M>V | No |
ClinGen gnomAD |
|
|
CA355185160 rs1189506951 |
83 | L>P | No |
ClinGen TOPMed |
|
|
CA86529323 rs956926912 |
85 | Y>* | No |
ClinGen Ensembl |
|
|
CA355185187 rs763833593 |
87 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2683511 rs763833593 |
87 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs776606533 CA2683512 |
88 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761711352 CA2683513 |
89 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA355185201 rs1318787063 |
90 | W>R | No |
ClinGen gnomAD |
|
|
CA86529374 rs1008905365 |
92 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA86529379 rs988040605 COSM1662754 |
92 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2683514 rs764832467 |
96 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA355185241 rs1306702564 |
96 | C>G | No |
ClinGen TOPMed |
|
|
CA2683515 rs373105100 |
97 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324129102 CA355185252 |
97 | F>L | No |
ClinGen TOPMed |
|
|
CA355185251 rs373105100 |
97 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2683516 rs553926935 |
98 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1269653875 CA355185270 |
100 | G>D | No |
ClinGen gnomAD |
|
|
CA2683517 rs766093654 |
101 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA355185293 rs1244529050 |
103 | I>M | No |
ClinGen gnomAD |
|
|
rs755350105 CA2683519 |
105 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683520 rs755350105 |
105 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430522765 CA355185304 |
105 | R>L | No |
ClinGen gnomAD |
|
|
rs1472473984 CA355185326 |
109 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1040533 CA2683521 rs148179484 |
110 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2683522 rs756548123 |
110 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86530787 rs562338310 |
111 | W>* | No |
ClinGen Ensembl |
|
|
COSM1040534 rs778213084 CA2683544 |
112 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756493285 CA2683543 |
112 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559915266 CA355185570 |
113 | T>S | No |
ClinGen Ensembl |
|
|
CA355185596 rs1350918503 |
115 | I>T | No |
ClinGen TOPMed |
|
|
CA355185610 rs1187223953 |
116 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757304035 CA2683547 |
118 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1184420947 CA355185682 |
122 | I>T | No |
ClinGen gnomAD |
|
|
rs1389697867 CA355185695 |
124 | Q>R | No |
ClinGen gnomAD |
|
|
CA2683560 rs375933374 |
125 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2683559 rs371509741 |
125 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs74729282 CA86531096 |
128 | A>S | No |
ClinGen Ensembl |
|
|
rs559215577 CA2683563 |
128 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355185734 rs1470119825 |
129 | L>V | No |
ClinGen gnomAD |
|
|
CA2683564 rs754328905 |
130 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1436688545 CA355185742 |
130 | G>V | No |
ClinGen gnomAD |
|
|
rs544878532 CA86531140 |
132 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 137 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577437435 CA2683565 |
138 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779477172 CA2683566 |
142 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA86531149 rs996327793 |
144 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355185842 rs1463677161 |
145 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs754132788 CA2683596 |
148 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1435462623 CA355185878 |
148 | I>M | No |
ClinGen TOPMed |
|
|
CA2683598 rs765609709 |
149 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2683597 rs762174913 |
149 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA355185882 rs765609709 |
149 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2683601 rs766540938 |
151 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs977518371 CA86533024 |
151 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA355185915 rs1409899469 |
155 | V>I | No |
ClinGen TOPMed |
|
|
rs1393432739 CA355185922 |
156 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355185920 rs1393432739 |
156 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1307993360 CA355185925 |
156 | A>V | No |
ClinGen gnomAD |
|
|
CA355185940 rs1340055767 |
158 | N>K | No |
ClinGen gnomAD |
|
|
rs371609366 CA86533057 |
161 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371609366 CA2683604 |
161 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA86533074 rs375912580 |
161 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2683606 rs757107037 |
167 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17854200 VAR_030139 CA86533085 |
168 | K>E | No |
ClinGen UniProt Ensembl dbSNP |
|
|
COSM257408 CA2683609 rs367562194 |
169 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs775046193 CA2683610 |
171 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188616603 CA2683612 |
173 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762040483 CA2683614 |
177 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2683613 rs776284120 |
177 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1041954349 CA86533131 |
178 | L>R | No |
ClinGen Ensembl |
|
|
rs551238431 CA2683615 |
179 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355186076 rs1401915728 |
179 | S>N | No |
ClinGen gnomAD |
|
|
CA355186084 rs1383626855 |
180 | M>K | No |
ClinGen gnomAD |
|
|
CA355186081 rs1317423590 |
180 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355186098 rs1227688777 |
182 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1309147415 CA355186108 |
183 | I>M | No |
ClinGen gnomAD |
|
|
rs1415424533 CA355186106 |
183 | I>T | No |
ClinGen TOPMed |
|
|
rs763586456 CA2683617 |
183 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2683634 rs747897386 |
184 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs770051609 CA2683635 |
185 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86536760 rs868282932 |
187 | V>L | No |
ClinGen gnomAD |
|
|
rs1187620480 CA355186265 |
189 | M>R | No |
ClinGen gnomAD |
|
|
CA2683637 rs185290806 |
191 | L>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2683639 rs373216926 |
192 | M>I | No |
ClinGen ESP ExAC |
|
|
rs766945309 CA2683638 |
192 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA355186314 rs1430387782 |
193 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2683640 rs759658683 |
194 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA2683641 rs767754362 |
195 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752847295 CA2683642 |
197 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86536805 rs888172113 |
198 | K>N | No |
ClinGen Ensembl |
|
|
CA2683643 rs761024231 |
199 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2683644 rs61749308 |
200 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs576639290 CA2683645 |
201 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576639290 CA2683646 |
201 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1283743399 CA355186418 |
204 | G>R | No |
ClinGen gnomAD |
|
|
CA355186425 rs1282792989 |
204 | G>V | No |
ClinGen TOPMed |
|
|
CA86536821 rs9867246 |
205 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 205 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA86536866 rs945299448 |
207 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs945299448 CA355186451 |
207 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs143132572 CA86536880 |
209 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1326454589 CA355186476 |
210 | T>N | No |
ClinGen TOPMed |
|
|
CA2683651 rs747620943 |
211 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1490015740 CA355186482 |
211 | L>R | No |
ClinGen gnomAD |
|
|
rs777313851 CA2683653 |
212 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355186497 rs1175702776 |
213 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1178079064 CA355186500 |
213 | I>N | No |
ClinGen TOPMed |
|
|
rs370327023 CA2683656 |
216 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771464773 CA2683655 |
216 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363756143 CA355186541 |
217 | I>F | No |
ClinGen gnomAD |
|
|
rs760176561 CA2683657 |
217 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA355186544 rs1426537499 |
217 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759351810 CA355187006 |
218 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759351810 CA2683697 |
218 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355187007 rs759351810 |
218 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389602536 CA355187010 |
219 | G>C | No |
ClinGen gnomAD |
|
|
CA355187008 rs1389602536 |
219 | G>S | No |
ClinGen gnomAD |
|
|
rs767450369 CA2683698 |
219 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3765083 CA355187013 CA355187014 |
220 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2683701 VAR_030140 rs3765083 |
220 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1413628594 CA355187020 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs753535023 CA2683702 |
221 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2683705 rs746186521 |
222 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1452769036 CA355187025 |
222 | C>G | No |
ClinGen gnomAD |
|
|
CA86542127 rs945061448 |
225 | S>* | No |
ClinGen TOPMed |
|
|
rs758717316 CA2683706 |
225 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs747516711 CA2683708 |
227 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340519083 COSM1040537 CA355187072 |
229 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768779746 CA2683709 |
230 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776511327 CA2683710 |
232 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs185534008 CA2683711 |
232 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355187096 rs1261205681 |
234 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2683712 rs769958466 |
236 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1536872 CA86542144 rs769958466 |
236 | D>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA86542167 rs927738117 |
239 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1479999080 CA355187140 |
240 | E>G | No |
ClinGen gnomAD |
|
|
rs759296345 CA2683714 |
242 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764094496 CA2683718 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2683720 rs756849283 |
249 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683721 rs764939083 |
251 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030831544 CA86542611 |
254 | I>S | No |
ClinGen Ensembl |
|
|
CA2683740 rs750084494 |
256 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683741 rs762449334 |
257 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1181700018 CA355187271 |
258 | D>Y | No |
ClinGen TOPMed |
|
|
rs563606239 CA86542636 |
262 | F>L | No |
ClinGen Ensembl |
|
|
CA2683744 rs751824888 |
263 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2683747 rs781642086 |
266 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA86542657 rs1019504998 |
269 | I>M | No |
ClinGen Ensembl |
|
|
rs11551240 VAR_059466 CA86542660 |
271 | I>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA2683750 rs773062315 |
272 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs773062315 CA2683749 |
272 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1453866201 CA355187376 |
274 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779216993 CA2683752 |
276 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA86542698 rs974731545 COSM362245 |
280 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2683754 rs370765147 |
282 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2683756 rs761896132 |
283 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1393418260 CA355187447 |
284 | I>T | No |
ClinGen gnomAD |
|
|
rs373865103 CA86542720 |
285 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs769422282 CA2683757 |
288 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355187615 rs1295080812 |
289 | V>I | No |
ClinGen TOPMed |
|
|
rs768553930 CA2683775 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768553930 CA2683774 |
291 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747973117 CA2683776 |
292 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA355187668 rs1381641328 |
293 | E>Q | No |
ClinGen gnomAD |
|
|
rs769808380 CA2683777 |
294 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355187724 rs1309048870 |
296 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773236918 CA2683778 |
297 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262157666 CA355187761 |
298 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748720741 CA2683779 |
300 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1243284462 CA355187799 |
301 | A>E | No |
ClinGen gnomAD |
|
|
CA2683780 rs770524137 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243284462 CA355187795 |
301 | A>V | No |
ClinGen gnomAD |
|
|
rs773862599 CA2683781 |
303 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759253379 CA2683782 |
304 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1426353749 CA355187838 |
304 | A>V | No |
ClinGen TOPMed |
|
|
rs1260186188 CA355187864 |
306 | N>S | No |
ClinGen gnomAD |
|
|
rs775772187 CA2683784 |
307 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1221693998 CA355187979 |
309 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2683805 rs776986735 |
309 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353791510 CA355187992 |
310 | Y>C | No |
ClinGen gnomAD |
|
|
rs1576913246 CA355188001 |
311 | V>I | No |
ClinGen Ensembl |
|
|
rs1291613167 CA355188009 |
312 | I>L | No |
ClinGen gnomAD |
|
|
CA355188029 rs1489967370 |
314 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355188052 rs1225138029 |
315 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs148701924 CA2683806 |
316 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148701924 CA2683807 |
316 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2683808 rs750470306 |
317 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758585554 CA2683809 |
318 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355188139 rs1162866985 |
321 | G>E | No |
ClinGen gnomAD |
|
|
rs749043560 CA2683814 |
325 | D>G | No |
ClinGen ExAC |
|
|
CA2683816 rs778736777 |
332 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2683817 rs745340565 |
333 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA355188303 TCGA novel rs1576913359 |
333 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1315001394 CA355188325 |
334 | V>D | No |
ClinGen gnomAD |
|
|
CA355188320 rs1576913369 |
334 | V>F | No |
ClinGen Ensembl |
|
|
rs771608743 CA2683818 |
335 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355188347 rs1230509202 |
336 | C>G | No |
ClinGen gnomAD |
|
|
CA355188345 rs1230509202 |
336 | C>R | No |
ClinGen gnomAD |
|
|
COSM1040539 rs746717335 CA2683820 |
337 | A>T | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768894588 CA2683821 |
339 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768894588 CA2683822 |
339 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768894588 CA2683823 |
339 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770297481 CA2683824 |
339 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458290218 CA355188420 |
341 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142146077 CA355188437 |
343 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142146077 CA2683825 |
343 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355188469 rs1383436093 |
345 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 345 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759738376 CA2683829 |
346 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2683828 rs751827274 |
346 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766627539 CA2683827 |
346 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs767649047 CA2683830 |
347 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA355188526 rs1400518264 |
348 | L>P | No |
ClinGen gnomAD |
|
|
CA2683831 rs570607559 |
351 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2683834 rs750409104 |
353 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs757890714 CA2683836 |
358 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768293331 CA2683839 |
359 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2683838 rs746523117 |
359 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683837 rs779602907 |
359 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355189308 rs1190581278 |
360 | C>Y | No |
ClinGen TOPMed |
|
|
rs1196854561 CA355189319 |
361 | L>F | No |
ClinGen gnomAD |
|
|
CA2683858 rs754489293 |
361 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355189329 rs1478088625 |
362 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2683859 rs780877040 |
364 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150772811 CA2683860 |
366 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355189358 rs1399534997 |
367 | S>L | No |
ClinGen gnomAD |
|
|
rs1361586758 CA355189371 COSM729455 |
369 | L>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA355189378 rs1239751532 |
370 | A>V | No |
ClinGen TOPMed |
|
|
rs1425172939 CA355189389 |
372 | A>T | No |
ClinGen gnomAD |
|
|
rs1281645975 TCGA novel CA355189406 |
374 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs1457038934 CA355189416 |
376 | M>V | No |
ClinGen TOPMed |
|
|
CA86545222 rs778220890 |
377 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778220890 CA2683862 |
377 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749688012 CA2683863 |
380 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA86545226 rs930260638 |
380 | V>I | No |
ClinGen TOPMed |
|
|
CA355189450 rs1348628102 |
381 | V>A | No |
ClinGen gnomAD |
|
|
CA2683866 rs568846837 |
382 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2683865 rs775031375 |
382 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA86545301 rs199910453 |
383 | E>K | No |
ClinGen gnomAD |
|
|
rs1269166752 CA355189466 |
384 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355189465 rs1269166752 |
384 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2683867 rs373205664 |
384 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA86545328 rs553764865 |
385 | Q>* | No |
ClinGen Ensembl |
|
|
rs964602390 CA86545341 |
387 | G>R | No |
ClinGen TOPMed |
|
|
rs370028915 CA2683871 |
390 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377078312 CA2683870 |
390 | Y>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1160997797 CA355189506 |
391 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2683872 rs539015482 |
392 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355189533 rs1198866012 |
393 | M>I | No |
ClinGen gnomAD |
|
|
CA355189551 rs1262036036 |
396 | I>V | No |
ClinGen gnomAD |
|
|
rs1236403226 CA355189577 |
399 | L>P | No |
ClinGen TOPMed |
|
|
rs200846082 CA2683902 |
403 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192969589 CA355189602 |
403 | I>T | No |
ClinGen gnomAD |
|
|
rs368163635 CA2683901 |
403 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355189615 rs1467434790 |
405 | S>F | No |
ClinGen gnomAD |
|
|
rs1374111141 CA355189616 |
406 | I>V | No |
ClinGen TOPMed |
|
|
rs758774504 CA2683903 |
407 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355189636 rs1464565368 |
409 | G>R | No |
ClinGen gnomAD |
|
|
CA2683905 rs747049904 |
410 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1379853112 CA355189655 |
411 | I>M | No |
ClinGen gnomAD |
|
|
rs1276130277 CA355189659 |
412 | L>R | No |
ClinGen gnomAD |
|
|
CA2683906 rs372091495 |
412 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748438068 CA2683908 |
415 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376941891 CA2683907 |
415 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355189680 rs1320836687 |
416 | G>E | No |
ClinGen gnomAD |
|
|
CA355189685 rs1576915572 |
417 | Y>D | No |
ClinGen Ensembl |
|
| TCGA novel | 418 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355189741 rs958946807 |
424 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778168786 CA86545947 |
427 | C>S | No |
ClinGen gnomAD |
|
|
CA86547311 rs960598118 |
431 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355189793 rs960598118 |
431 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748240132 CA2683928 |
433 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382057858 CA355189812 |
434 | S>F | No |
ClinGen gnomAD |
|
|
CA355189825 rs1404916221 |
436 | V>A | No |
ClinGen Ensembl |
|
|
CA355189821 rs1420204373 |
436 | V>I | No |
ClinGen gnomAD |
|
|
CA2683929 rs534236276 |
437 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2683930 rs778091517 |
438 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1438255148 CA355189842 |
439 | Y>C | No |
ClinGen gnomAD |
|
|
CA355189846 rs1293686680 |
440 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM1484799 CA2683931 rs745622550 |
443 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2683932 rs200660222 |
443 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355189869 rs200660222 |
443 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355189871 rs1310770695 |
444 | A>T | No |
ClinGen gnomAD |
|
|
rs775274349 CA2683933 |
445 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2683934 rs760758886 |
446 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA355238592 rs371102963 |
449 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196970329 CA355238617 |
452 | S>C | No |
ClinGen gnomAD |
|
|
CA355238620 rs1576918451 |
453 | A>T | No |
ClinGen Ensembl |
|
|
rs769394688 CA2683960 |
456 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362656053 CA355238645 |
457 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 458 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2683961 rs772736456 |
459 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776612289 CA2683963 |
460 | K>* | No |
ClinGen ExAC |
|
|
rs762601752 CA2683962 |
460 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA355238687 rs1473718343 |
462 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1367457449 CA355238690 |
463 | H>Y | No |
ClinGen TOPMed |
|
| rs559291333 | 464 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA86757278 rs889726792 |
465 | E>K | No |
ClinGen TOPMed |
No associated diseases with Q9H3U5
1 regional properties for Q9H3U5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Major facilitator superfamily domain | 42 - 445 | IPR020846 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein localization to lysosome | A process in which a protein is transported to, or maintained in, a location within a lysosome. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q1JQC1 | MFSD1 | Major facilitator superfamily domain-containing protein 1 | Bos taurus (Bovine) | PR |
| Q5ZIT9 | MFSD1 | Major facilitator superfamily domain-containing protein 1 | Gallus gallus (Chicken) | PR |
| Q9DC37 | Mfsd1 | Major facilitator superfamily domain-containing protein 1 | Mus musculus (Mouse) | PR |
| Q32LQ6 | mfsd1 | Major facilitator superfamily domain-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEEDEEARA | LLAGGPDEAD | RGAPAAPGAL | PALCDPSRLA | HRLLVLLLMC | FLGFGSYFCY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DNPAALQTQV | KRDMQVNTTK | FMLLYAWYSW | PNVVLCFFGG | FLIDRVFGIR | WGTIIFSCFV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CIGQVVFALG | GIFNAFWLME | FGRFVFGIGG | ESLAVAQNTY | AVSWFKGKEL | NLVFGLQLSM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARIGSTVNMN | LMGWLYSKIE | ALLGSAGHTT | LGITLMIGGI | TCILSLICAL | ALAYLDQRAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RILHKEQGKT | GEVIKLTDVK | DFSLPLWLIF | IICVCYYVAV | FPFIGLGKVF | FTEKFGFSSQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AASAINSVVY | VISAPMSPVF | GLLVDKTGKN | IIWVLCAVAA | TLVSHMMLAF | TMWNPWIAMC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLGLSYSLLA | CALWPMVAFV | VPEHQLGTAY | GFMQSIQNLG | LAIISIIAGM | ILDSRGYLFL |
| 430 | 440 | 450 | 460 | ||
| EVFFIACVSL | SLLSVVLLYL | VNRAQGGNLN | YSARQREEIK | FSHTE |