Q8WUT9
PR
Gene name |
SLC25A43 |
Protein name |
Solute carrier family 25 member 43 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:203427 |
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 Q8WUT9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WUT9-F1 | Predicted | AlphaFoldDB |
164 variants for Q8WUT9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1214441544 CA414375015 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA414375013 rs1214441544 |
2 | A>T | No |
ClinGen gnomAD |
|
|
CA414375024 rs1242259801 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs1465921479 CA414375040 |
3 | T>M | No |
ClinGen gnomAD |
|
|
CA414375058 rs1444984339 |
4 | W>* | No |
ClinGen gnomAD |
|
|
CA414375064 rs1164833204 CA414375066 |
4 | W>C | No |
ClinGen gnomAD |
|
|
rs1384338541 CA414375046 |
4 | W>R | No |
ClinGen gnomAD |
|
|
rs1405691829 CA414375085 |
5 | R>S | No |
ClinGen gnomAD |
|
|
rs1317650522 CA414375097 |
6 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1317650522 CA414375094 |
6 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1335004527 CA414375117 |
7 | D>G | No |
ClinGen gnomAD |
|
|
CA414375103 rs1437482661 |
7 | D>N | No |
ClinGen gnomAD |
|
|
CA414375106 rs1437482661 |
7 | D>Y | No |
ClinGen gnomAD |
|
|
CA414375129 rs1449181257 |
8 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1286383806 CA414375132 |
8 | G>D | No |
ClinGen gnomAD |
|
|
CA414375126 rs1449181257 |
8 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA414375176 rs1392518021 |
11 | T>R | No |
ClinGen TOPMed |
|
|
CA414375206 rs1330648142 |
13 | G>D | No |
ClinGen gnomAD |
|
|
CA414375258 rs1242120281 |
16 | L>V | No |
ClinGen gnomAD |
|
|
CA414375295 rs1189361270 |
19 | A>S | No |
ClinGen gnomAD |
|
|
CA414375293 rs1189361270 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA414375316 rs1218501570 |
21 | L>M | No |
ClinGen gnomAD |
|
|
CA414375347 rs1603292839 |
24 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 31 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414375478 rs1268391263 |
32 | P>T | No |
ClinGen TOPMed |
|
|
CA414375507 rs1174425980 TCGA novel |
33 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs1489893001 CA414375592 |
36 | A>P | No |
ClinGen TOPMed |
|
|
CA414375655 rs1004955503 |
38 | V>L | No |
ClinGen gnomAD |
|
|
rs1004955503 CA334965580 |
38 | V>M | No |
ClinGen gnomAD |
|
|
CA414375671 rs1336480749 |
39 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414375777 rs1334365280 |
42 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA334965582 rs1015167123 |
44 | V>I | No |
ClinGen Ensembl |
|
|
rs963243651 CA334965583 |
45 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 46 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414375940 rs1301585667 |
50 | R>W | No |
ClinGen TOPMed |
|
|
rs1363276180 CA414376052 |
55 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 56 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221142492 CA414376079 |
57 | H>L | No |
ClinGen gnomAD |
|
|
CA414376092 rs1429756946 |
58 | R>W | No |
ClinGen TOPMed |
|
|
CA414376118 rs1395771367 |
59 | V>A | No |
ClinGen TOPMed |
|
|
CA334965584 rs973691383 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 73 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953301014 CA334965586 |
74 | V>M | No |
ClinGen TOPMed |
|
|
CA334965587 rs987123199 |
75 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1198376103 CA414376571 |
76 | C>G | No |
ClinGen TOPMed |
|
|
rs1479593601 CA414376656 |
81 | P>L | No |
ClinGen TOPMed |
|
|
CA414376715 rs759116506 |
85 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759116506 CA10501837 |
85 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 94 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415390016 CA414377513 |
99 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 99 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501843 rs777246593 |
102 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA414377537 rs1374772030 |
103 | H>Y | No |
ClinGen TOPMed |
|
|
CA334966087 rs945242249 |
108 | S>N | No |
ClinGen Ensembl |
|
|
rs141488181 CA10501844 |
110 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA414377596 rs1435473351 |
111 | M>T | No |
ClinGen gnomAD |
|
|
rs1345513276 CA414377594 |
111 | M>V | No |
ClinGen TOPMed |
|
|
CA10501845 rs757536288 |
114 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757536288 CA10501846 |
114 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746370867 CA10501847 |
116 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs866584641 CA334966088 |
118 | M>V | No |
ClinGen gnomAD |
|
|
rs770056355 CA10501848 |
119 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1569365415 CA414377652 |
120 | S>C | No |
ClinGen Ensembl |
|
|
COSM271965 CA334966089 rs937964905 |
121 | T>A | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780293558 CA10501849 |
129 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501850 rs377161207 |
133 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA334966090 rs267606330 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778025228 CA10501852 |
137 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA414377840 rs1371544733 |
143 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 147 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501855 rs770630004 |
151 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501856 rs776691094 |
159 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs150424084 CA10501857 |
164 | Y>S | No |
ClinGen ESP ExAC |
|
|
rs138285581 CA10501858 COSM1113847 |
165 | R>* | endometrium Variant assessed as Somatic; 0.0001878 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775009010 CA10501859 |
165 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA334966092 rs895309079 |
171 | V>D | No |
ClinGen TOPMed |
|
|
rs948311642 CA334966093 |
172 | V>I | No |
ClinGen TOPMed |
|
|
CA334966349 rs919254303 |
173 | G>V | No |
ClinGen TOPMed |
|
|
rs1603294647 CA414371144 |
174 | A>D | No |
ClinGen Ensembl |
|
|
CA414371141 rs1164571623 |
174 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10501868 rs200708792 |
176 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501870 rs754983160 |
177 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1435302311 CA414371181 |
180 | G>A | No |
ClinGen gnomAD |
|
|
rs201543108 CA10501871 |
184 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501872 rs748307899 |
185 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483263284 CA414371214 |
186 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 187 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992876605 CA334966350 |
189 | E>K | No |
ClinGen TOPMed |
|
|
rs1245346254 CA414371243 |
190 | K>E | No |
ClinGen gnomAD |
|
|
CA10501873 rs772282178 |
191 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | N>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501876 rs769742123 |
194 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10501877 rs775379926 |
195 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 195 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501878 rs201271542 |
196 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763505173 CA10501879 |
196 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10501880 rs774109351 |
198 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs761384381 CA10501881 |
201 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414371324 rs1426013845 |
202 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10501883 rs750849101 |
202 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414371331 rs1157581838 |
203 | Q>H | No |
ClinGen gnomAD |
|
|
CA334966352 rs1054077424 |
207 | N>S | No |
ClinGen Ensembl |
|
|
CA414371364 rs1457281366 |
208 | V>L | No |
ClinGen gnomAD |
|
|
rs892878228 CA334966353 |
209 | C>Y | No |
ClinGen Ensembl |
|
|
rs755141510 CA10501888 |
225 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10501889 rs778869793 |
229 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA334966354 rs756157236 |
229 | M>T | No |
ClinGen Ensembl |
|
|
CA414374322 rs1233904581 |
233 | S>G | No |
ClinGen TOPMed |
|
|
CA414374341 rs1569379109 |
235 | Y>* | No |
ClinGen Ensembl |
|
|
rs1178576613 CA414374337 |
235 | Y>C | No |
ClinGen TOPMed |
|
|
CA10501903 rs761186819 |
241 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766834846 CA10501904 |
242 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766834846 CA10501905 |
242 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752738565 CA10501908 |
244 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10501909 rs758487361 |
249 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10501911 COSM1732541 rs750413642 |
254 | R>Q | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs148607492 CA10501910 |
254 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191320724 CA414374530 |
255 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10501912 rs755963723 |
258 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 263 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501913 rs142128668 |
264 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151160418 CA10501914 |
270 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184179550 CA10501925 |
276 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501928 rs751582587 |
280 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757477141 CA10501929 |
283 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs781353211 CA10501930 |
285 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501931 rs753597935 |
286 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10501933 rs778782049 |
287 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA414375178 rs1225368335 |
293 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 300 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501935 rs758351112 |
302 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10501938 rs770726930 |
312 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501940 rs746263703 |
314 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs746263703 CA10501941 |
314 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181453883 CA414375756 |
316 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867298605 CA334969023 |
318 | Q>* | No |
ClinGen Ensembl |
|
|
rs775922379 CA10501943 |
319 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866452625 CA334969024 |
319 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 320 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764521214 CA10501945 |
321 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1183561888 CA414375913 |
321 | E>K | No |
ClinGen gnomAD |
|
|
CA10501946 rs199944645 |
323 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139151703 CA10501947 |
323 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767776458 CA10501948 |
327 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10501949 rs750653803 |
328 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA10501950 rs200466042 |
331 | T>M | Variant assessed as Somatic; 0.0006872 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_032865 rs3810755 CA10501952 |
334 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA414376263 rs3810755 |
334 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777800780 CA10501954 |
335 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1227229969 CA414376327 |
336 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569379520 CA414376421 |
339 | P>S | No |
ClinGen Ensembl |
|
|
CA334969026 rs367704402 |
340 | T>A | No |
ClinGen ESP TOPMed |
No associated diseases with Q8WUT9
3 regional properties for Q8WUT9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Mitochondrial substrate/solute carrier | 13 - 99 | IPR018108-1 |
| repeat | Mitochondrial substrate/solute carrier | 103 - 192 | IPR018108-2 |
| repeat | Mitochondrial substrate/solute carrier | 199 - 294 | IPR018108-3 |
2 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. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATWRRDGRL | TGGQRLLCAG | LAGTLSLSLT | APLELATVLA | QVGVVRGHAR | GPWATGHRVW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAEGLRALWK | GNAVACLRLF | PCSAVQLAAY | RKFVVLFTDD | LGHISQWSSI | MAGSLAGMVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TIVTYPTDLI | KTRLIMQNIL | EPSYRGLLHA | FSTIYQQEGF | LALYRGVSLT | VVGALPFSAG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLLVYMNLEK | IWNGPRDQFS | LPQNFANVCL | AAAVTQTLSF | PFETVKRKMQ | AQSPYLPHSG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GVDVHFSGAV | DCFRQIVKAQ | GVLGLWNGLT | ANLLKIVPYF | GIMFSTFEFC | KRICLYQNGY |
| 310 | 320 | 330 | 340 | ||
| ILSPLSYKLT | PGVDQSLQPQ | ELRELKKFFK | TRKPKPKKPT | L |