O75489
PR
Gene name |
NDUFS3 |
Protein name |
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial |
Names |
Complex I-30kD, CI-30kD, NADH-ubiquinone oxidoreductase 30 kDa subunit |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4722 |
EC number |
7.1.1.2: Hydron translocation or charge separation linked to oxidoreductase reactions |
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
5 structures for O75489
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5XTB | EM | 340 A | P | 43-250 | PDB |
| 5XTD | EM | 370 A | P | 43-250 | PDB |
| 5XTH | EM | 390 A | P | 43-250 | PDB |
| 5XTI | EM | 1740 A | BP/P | 43-250 | PDB |
| AF-O75489-F1 | Predicted | AlphaFoldDB |
241 variants for O75489
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs201457989 RCV001103766 CA5977772 RCV001103767 |
12 | R>C | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000342182 RCV002515416 RCV000403906 RCV002517241 CA321939 RCV000197472 rs368907187 |
27 | P>S | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA380357590 RCV000623097 RCV001105709 rs1555198759 RCV001105708 |
50 | R>Q | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000261687 RCV000300392 rs886048391 CA10631038 |
64 | Y>H | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10607103 RCV000293525 rs886044765 |
68 | I>M | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555198835 CA380358427 RCV000624385 |
90 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001823140 RCV000479127 RCV000853270 rs138867882 CA5977938 |
125 | R>H | Mitochondrial complex 1 deficiency, nuclear type 8 Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002546565 RCV002546566 RCV001332479 rs368446373 CA5977983 |
136 | R>C | Variant assessed as Somatic; 0.0 impact. Mitochondrial complex 1 deficiency, nuclear type 8 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000790863 rs142248674 CA5977984 VAR_081411 RCV001557810 |
140 | R>W | Mitochondrial complex 1 deficiency, nuclear type 8 MC1DN8; unknown pathological significance; decrease in enzyme activity; impaired assembly of complex I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs780005953 RCV001106825 RCV001106824 CA5977987 |
142 | R>H | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28939714 CA117915 RCV000006390 RCV002273921 VAR_081412 |
145 | T>I | Mitochondrial complex 1 deficiency, nuclear type 8 MC1DN8; decrease in enzyme activity; increased protein instability and aggregation; compound heterozygous with W-199 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000331648 CA320767 RCV000884571 rs148331180 RCV000274500 |
159 | V>L | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5978034 RCV002533151 rs771783839 RCV000626206 |
199 | R>Q | Mitochondrial complex I deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000006391 VAR_081413 CA117917 rs104894270 |
199 | R>W | Mitochondrial complex 1 deficiency, nuclear type 8 MC1DN8; decrease in enzyme activity; impaired assembly of complex I; increased protein instability and aggregation; compound heterozygous with I-145 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001107484 RCV001107485 CA221735984 rs201371939 |
246 | R>H | Leigh syndrome Variant assessed as Somatic; 0.0 impact. Mitochondrial complex I deficiency, nuclear type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002520728 CA5978092 rs752314902 RCV000285816 CA5978093 RCV000342978 |
251 | S>R | Leigh syndrome Mitochondrial complex I deficiency, nuclear type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000196482 rs863224106 |
1 | M>R | No |
ClinVar dbSNP |
|
|
CA221735373 rs775647796 |
2 | A>E | No |
ClinGen ExAC TOPMed |
|
|
rs1305982649 CA380356350 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs775647796 CA5977765 |
2 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1235170320 CA380356358 |
3 | A>S | No |
ClinGen gnomAD |
|
|
CA380356356 rs1235170320 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs1275015181 CA380356362 |
3 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 4 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221735374 rs927402987 |
5 | A>E | No |
ClinGen Ensembl |
|
|
CA380356402 rs1458590227 |
6 | V>A | No |
ClinGen gnomAD |
|
|
rs1458590227 CA380356406 |
6 | V>E | No |
ClinGen gnomAD |
|
|
rs936169337 CA221735375 |
6 | V>L | No |
ClinGen Ensembl |
|
|
CA221735378 rs892029679 |
7 | A>G | No |
ClinGen Ensembl |
|
|
CA221735377 rs1055056584 |
7 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA221735376 rs1055056584 |
7 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 7 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380356421 rs762277356 |
8 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380356425 rs1428851015 |
8 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1428851015 CA380356437 |
8 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1479609982 CA380356444 CA380356439 |
8 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5977769 rs762277356 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461572554 CA380356467 |
10 | W>* | No |
ClinGen gnomAD |
|
|
rs750728893 CA5977771 |
10 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297486508 CA380356484 |
11 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs926788636 CA221735379 |
12 | R>H | No |
ClinGen TOPMed |
|
|
rs751098229 CA5977774 |
13 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380356569 rs1309497712 |
15 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1279507313 CA380356576 |
16 | G>R | No |
ClinGen gnomAD |
|
|
rs1307527780 CA380356585 |
17 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380356601 rs1226091317 |
19 | A>T | No |
ClinGen gnomAD |
|
|
CA380356610 rs1250069097 |
19 | A>V | No |
ClinGen gnomAD |
|
|
rs111303028 CA221735382 |
21 | T>I | No |
ClinGen gnomAD |
|
|
CA5977777 rs752752534 RCV000904288 |
22 | R>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5977797 rs764086618 |
23 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5977798 rs764086618 |
23 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757051532 CA5977799 |
25 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs755168344 CA5977801 |
27 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA380356711 rs1183082160 |
28 | S>A | No |
ClinGen gnomAD |
|
|
CA380356717 rs1565939987 |
29 | V>L | No |
ClinGen Ensembl |
|
| TCGA novel | 32 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380356769 rs1408487334 |
35 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA380356780 rs1418313417 |
36 | R>W | No |
ClinGen gnomAD |
|
|
rs771263818 CA380356797 |
37 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA380356791 rs1469806098 |
37 | E>G | No |
ClinGen gnomAD |
|
|
rs749766987 CA5977807 |
37 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs923553104 CA221735397 |
38 | S>G | No |
ClinGen Ensembl |
|
|
CA5977809 rs774768330 |
38 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5977810 rs759126056 |
39 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs767216865 CA5977811 |
40 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373005182 CA380356823 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs1598802833 CA380356849 |
41 | A>G | No |
ClinGen Ensembl |
|
|
rs979680035 CA221735398 |
41 | A>P | No |
ClinGen TOPMed |
|
|
CA380356877 RCV000522121 rs1555198446 |
43 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1203113022 CA380356894 |
44 | R>C | No |
ClinGen gnomAD |
|
|
CA380357571 rs1352349109 |
47 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1352349109 CA380357572 |
47 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1205401999 CA380357581 |
48 | R>K | No |
ClinGen gnomAD |
|
|
CA380357588 rs1444715700 |
49 | P>L | No |
ClinGen gnomAD |
|
|
rs1052267746 CA221735538 |
49 | P>S | No |
ClinGen gnomAD |
|
|
CA5977854 rs773237309 |
50 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1444635303 CA380357599 |
51 | N>K | No |
ClinGen gnomAD |
|
|
rs766216644 CA5977856 |
52 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5977858 rs760894844 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764340329 CA5977859 |
57 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753891410 CA5977861 |
58 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380357650 rs1158668592 |
59 | S>* | No |
ClinGen TOPMed |
|
|
CA221735539 rs370040861 |
60 | A>P | No |
ClinGen ESP |
|
|
CA5977862 rs757411242 |
61 | F>L | No |
ClinGen ExAC |
|
|
rs778828840 CA5977863 COSM1703879 |
62 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs889228369 CA221735540 |
62 | G>V | No |
ClinGen Ensembl |
|
|
rs751037845 CA5977864 |
63 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758962707 CA380357681 |
64 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780581475 CA5977866 |
65 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380357691 rs1362515503 |
66 | A>G | No |
ClinGen gnomAD |
|
|
CA5977868 rs747335752 |
71 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380357733 rs1348174659 |
72 | Y>C | No |
ClinGen gnomAD |
|
|
CA5977869 rs768213905 |
74 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA380357752 rs1565941739 |
75 | Q>P | No |
ClinGen Ensembl |
|
|
CA380357760 rs1257513106 |
76 | V>D | No |
ClinGen TOPMed |
|
|
rs756805200 CA5977914 |
79 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs200420802 CA5977917 |
84 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5977919 rs771848158 |
85 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746730194 CA5977920 |
86 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs746730194 CA380358361 |
86 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs773608427 CA5977922 |
87 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771188965 CA5977924 |
89 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206918067 CA380358398 |
89 | H>Y | No |
ClinGen gnomAD |
|
|
CA380358443 rs1477862791 |
92 | G>S | No |
ClinGen TOPMed |
|
|
rs760089998 CA5977926 |
93 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA380358471 rs1384430645 |
94 | I>V | No |
ClinGen gnomAD |
|
|
rs753129837 CA5977928 |
96 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA380358539 rs1196625674 |
97 | L>P | No |
ClinGen TOPMed |
|
|
CA221735556 rs556532140 |
102 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA380358710 rs556532140 |
102 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA380358936 rs1257383541 |
108 | F>L | No |
ClinGen TOPMed |
|
|
rs753558486 CA5977931 |
109 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA380359041 rs1336677972 |
112 | V>A | No |
ClinGen gnomAD |
|
|
rs756891016 CA5977932 |
114 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1199121005 CA380359169 |
118 | D>N | No |
ClinGen TOPMed |
|
|
rs778409332 CA5977933 |
119 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758393750 CA5977935 |
122 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150670630 CA5977934 |
122 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5977936 rs779903547 |
123 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5977937 rs746933225 |
125 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751046043 CA5977979 |
128 | I>T | No |
ClinGen ExAC |
|
|
CA380360679 rs1282003521 |
129 | V>I | No |
ClinGen gnomAD |
|
|
RCV000677082 CA5977980 rs754995990 |
134 | S>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1189269435 CA380360732 |
134 | S>T | No |
ClinGen TOPMed |
|
|
CA380360755 rs1206085116 |
136 | R>H | No |
ClinGen gnomAD |
|
|
rs1244301656 CA380360798 |
139 | S>A | No |
ClinGen gnomAD |
|
|
CA380360803 rs142248674 |
140 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5977985 rs372417584 |
140 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234814626 CA380360826 |
141 | I>S | No |
ClinGen gnomAD |
|
|
COSM189980 rs146407178 RCV000489564 CA5977986 |
142 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5977988 rs747054142 |
144 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs28939714 CA5977989 |
145 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA380360942 rs1598805737 |
146 | Y>S | No |
ClinGen Ensembl |
|
|
CA380361014 rs770110842 |
149 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770110842 CA5977992 |
149 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748646798 CA5977991 |
149 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA380361023 rs1332021499 |
150 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5977993 COSM1177712 rs773564480 |
151 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs540213433 CA5977995 |
153 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380361129 rs774019045 |
154 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5977996 rs774019045 |
154 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA380361163 rs1264288061 |
155 | S>F | No |
ClinGen gnomAD |
|
|
rs1249894059 CA380361273 |
160 | F>L | No |
ClinGen gnomAD |
|
|
rs199783134 CA5977998 |
160 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481423651 CA380361309 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA5977999 rs144217602 |
166 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5978000 rs763809636 |
167 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753606950 CA5978001 |
169 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs13592 CA221735661 |
172 | D>G | No |
ClinGen Ensembl |
|
|
CA5978022 rs761719205 |
173 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA380361595 rs1389335782 |
173 | M>T | No |
ClinGen gnomAD |
|
|
rs765009173 CA5978023 |
177 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 178 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1644811 rs550477502 CA5978024 |
180 | N>D | salivary_gland [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs550477502 CA380361703 |
180 | N>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5978026 rs750546500 |
180 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361828725 CA380361718 |
181 | H>D | No |
ClinGen gnomAD |
|
|
rs1245746547 CA380361732 |
181 | H>Q | No |
ClinGen gnomAD |
|
|
rs977612905 CA221735663 |
183 | D>E | No |
ClinGen TOPMed |
|
|
CA5978027 rs560986343 |
184 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380361774 rs1487515807 |
185 | R>K | No |
ClinGen gnomAD |
|
|
CA380361783 rs1158920029 |
186 | R>G | No |
ClinGen TOPMed |
|
|
rs1366620862 CA380361831 |
189 | T>K | No |
ClinGen TOPMed |
|
|
rs863224107 RCV000200329 |
190 | D>missing | No |
ClinVar dbSNP |
|
|
rs1186955971 CA380361839 |
190 | D>H | No |
ClinGen TOPMed |
|
|
CA380361855 rs1465320812 |
191 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5978032 rs201081655 |
194 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771395072 CA5978033 |
197 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA380361980 rs771783839 |
199 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369251291 CA5978036 |
204 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768032101 CA5978038 |
205 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs747180028 CA5978039 |
207 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs369800649 CA5978056 |
211 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369800649 CA5978057 |
211 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1015261716 CA221735947 |
211 | R>H | No |
ClinGen TOPMed |
|
|
rs369800649 CA380362627 |
211 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748116969 CA380362634 |
212 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748116969 CA5978058 |
212 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769675199 CA5978059 |
213 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179479122 CA380362646 |
214 | D>A | No |
ClinGen gnomAD |
|
|
rs762784963 CA5978062 |
214 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5978060 rs201626967 |
214 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176006130 CA380362668 |
217 | K>M | No |
ClinGen gnomAD |
|
|
rs78121716 CA5978066 COSM1354105 |
218 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs768523124 CA5978065 |
218 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380362679 rs1350163054 |
219 | V>A | No |
ClinGen gnomAD |
|
|
rs577199336 CA5978069 |
220 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1203939196 CA380362691 |
221 | A>V | No |
ClinGen TOPMed |
|
|
CA5978070 rs758877811 |
223 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925829548 CA221735973 |
224 | V>L | No |
ClinGen TOPMed |
|
|
rs925829548 CA221735971 |
224 | V>M | No |
ClinGen TOPMed |
|
|
rs1310162118 CA380362713 |
225 | E>G | No |
ClinGen gnomAD |
|
|
rs1292863717 CA380362727 |
227 | A>D | No |
ClinGen gnomAD |
|
|
CA5978074 rs780781060 |
228 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs373319680 CA221735981 |
230 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA380362751 rs1325151121 |
230 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545846119 CA5978076 |
231 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773174072 CA5978077 |
231 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA380362752 rs545846119 |
231 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749217797 CA5978078 |
232 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380362758 RCV000498968 rs1321310543 |
232 | K>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA380362760 rs749217797 |
232 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5978079 rs770816297 |
234 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA380362771 rs761809878 |
234 | D>H | No |
ClinGen gnomAD |
|
|
CA221735983 rs761809878 |
234 | D>N | No |
ClinGen gnomAD |
|
|
CA380362777 rs1344838944 |
235 | L>M | No |
ClinGen gnomAD |
|
|
rs1598806891 CA380362787 |
236 | N>T | No |
ClinGen Ensembl |
|
|
CA5978082 rs768720812 |
238 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760957845 CA5978081 |
238 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5978083 rs776795187 |
241 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1598806910 CA380362857 |
244 | V>A | No |
ClinGen Ensembl |
|
|
rs765380548 CA5978085 |
245 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs376722149 CA322835 RCV001904778 |
246 | R>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA380362878 rs1365486216 |
247 | Q>E | No |
ClinGen gnomAD |
|
|
rs763493736 CA5978086 |
248 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3782630 rs9600 CA5978087 |
249 | P>L | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_012036 rs9600 CA221735985 |
249 | P>Q | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA5978091 rs780756010 |
250 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201167810 CA5978090 |
250 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380362908 rs1270705008 |
250 | E>K | No |
ClinGen TOPMed |
|
|
CA380362921 rs1598806951 |
251 | S>N | No |
ClinGen Ensembl |
|
|
rs1598806949 CA380362919 |
251 | S>R | No |
ClinGen Ensembl |
|
|
CA5978094 rs777250139 |
252 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777250139 CA221735990 |
252 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285791918 CA380362944 |
253 | K>R | No |
ClinGen TOPMed |
|
|
rs1050466188 CA221735991 |
254 | L>V | No |
ClinGen TOPMed |
|
|
rs749238576 CA5978095 |
255 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1245477393 CA380362971 |
256 | A>P | No |
ClinGen gnomAD |
|
|
CA5978097 rs376813247 |
257 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA221735992 rs766631442 |
258 | D>G | No |
ClinGen TOPMed |
|
|
rs1389886482 CA380362992 |
258 | D>H | No |
ClinGen gnomAD |
|
|
CA5978098 rs745602213 |
259 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA380363012 rs1414873872 |
259 | K>N | No |
ClinGen gnomAD |
|
|
rs1008837904 CA221735994 |
260 | K>T | No |
ClinGen TOPMed |
|
|
CA380363032 rs1325299641 |
261 | P>L | No |
ClinGen TOPMed |
|
|
rs1404837703 CA380363026 |
261 | P>T | No |
ClinGen gnomAD |
|
|
rs888658650 CA221735995 |
262 | D>Y | No |
ClinGen Ensembl |
|
|
CA5978100 rs777038304 |
265 | K>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with O75489
[MIM: 618230]: Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8)
A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:14729820, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:24028823, ECO:0000269|PubMed:30140060}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:14729820, ECO:0000269|PubMed:22499348, ECO:0000269|PubMed:24028823, ECO:0000269|PubMed:30140060}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 7.1.1.2 | Hydron translocation or charge separation linked to oxidoreductase reactions |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrial membrane | Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. |
| mitochondrial respiratory chain complex I | A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| electron transfer activity | Any molecular entity that serves as an electron acceptor and electron donor in an electron transport chain. An electron transport chain is a process in which a series of electron carriers operate together to transfer electrons from donors to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient. |
| NADH dehydrogenase (ubiquinone) activity | Catalysis of the reaction: NADH + ubiquinone + 5 H(+)(in) <=> NAD(+) + ubiquinol + 4 H(+)(out). |
| NADH dehydrogenase activity | Catalysis of the reaction: NADH + H+ + acceptor = NAD+ + reduced acceptor. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| aerobic respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. |
| mitochondrial electron transport, NADH to ubiquinone | The transfer of electrons from NADH to ubiquinone that occurs during oxidative phosphorylation. |
| mitochondrial respiratory chain complex I assembly | The aggregation, arrangement and bonding together of a set of components to form mitochondrial respiratory chain complex I. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of intrinsic apoptotic signaling pathway | Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| proton motive force-driven mitochondrial ATP synthesis | The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. |
| reactive oxygen species metabolic process | The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. |
| substantia nigra development | The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis). |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P23709 | NDUFS3 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial | Bos taurus (Bovine) | PR |
| Q0MQG8 | NDUFS3 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial | Pan troglodytes (Chimpanzee) | PR |
| Q9DCT2 | Ndufs3 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAVARLW | WRGILGASAL | TRGTGRPSVL | LLPVRRESAG | ADTRPTVRPR | NDVAHKQLSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FGEYVAEILP | KYVQQVQVSC | FNELEVCIHP | DGVIPVLTFL | RDHTNAQFKS | LVDLTAVDVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TRQNRFEIVY | NLLSLRFNSR | IRVKTYTDEL | TPIESAVSVF | KAANWYEREI | WDMFGVFFAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HPDLRRILTD | YGFEGHPFRK | DFPLSGYVEL | RYDDEVKRVV | AEPVELAQEF | RKFDLNSPWE |
| 250 | 260 | ||||
| AFPVYRQPPE | SLKLEAGDKK | PDAK |