Q9UMS0
PR
Gene name |
NFU1 (HIRIP5) |
Protein name |
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial |
Names |
C-type lectin DDB27, C-type lectin superfamily member 6, Dendritic cell immunoreceptor, Lectin-like immunoreceptor, HIRA-interacting protein 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27247 |
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
3 structures for Q9UMS0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LTM | NMR | - | A | 59-155 | PDB |
| 2M5O | NMR | - | A | 162-247 | PDB |
| AF-Q9UMS0-F1 | Predicted | AlphaFoldDB |
218 variants for Q9UMS0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_079757 CA1694321 rs776875884 |
21 | R>P | MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000676267 RCV000294034 rs4453725 RCV000127198 VAR_044429 CA292533 |
25 | M>K | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1673654615 RCV001141884 |
28 | N>K | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA49531082 RCV001216752 rs113707482 |
49 | P>T | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA320689 rs76646410 RCV000196268 RCV000649049 |
51 | A>S | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA292529 RCV000364040 RCV000127196 rs74637005 RCV000676266 |
96 | R>C | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000323454 rs139171264 CA1694242 |
100 | A>G | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs756434076 RCV001139263 CA1694215 |
111 | S>I | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000303644 CA10615791 rs886056266 CA49510764 |
165 | E>D | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
CA347123809 RCV001333595 rs1281276965 |
182 | R>Q | Multiple mitochondrial dysfunctions syndrome 1 Variant assessed as Somatic; 0.0 impact. Multiple mitochondrial dysfunctions syndrome 1 (mmds1) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000578338 rs1354126704 CA347123810 VAR_079758 |
182 | R>W | Multiple mitochondrial dysfunctions syndrome 1 MMDS1; patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
| VAR_079759 | 189 | G>R | MMDS1; alters protein structure; increases likelihood of existing as monomer; decreases ability to receive a Fe/S clusters from donor proteins; decreases delivery rates of [2Fe-2S] cluster to target proteins [UniProt] | Yes | UniProt |
| VAR_079760 | 190 | G>R | MMDS1; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000023678 RCV000385109 rs374514431 VAR_066639 CA129406 |
208 | G>C | Multiple mitochondrial dysfunctions syndrome 1 Multiple mitochondrial dysfunctions syndrome 1 (mmds1) MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; increases homodimerization; unable to receive a Fe/S clusters from donor proteins; changes delivery rates of [2Fe-2S] cluster to target proteins [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs201634470 RCV001549765 CA1694108 RCV000262464 |
210 | C>F | Multiple mitochondrial dysfunctions syndrome 1 Multiple mitochondrial dysfunctions syndrome 1 (mmds1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1694103 RCV001217924 RCV000479200 rs377381866 |
226 | N>D | Multiple mitochondrial dysfunctions syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327683 CA1694099 rs777602937 |
233 | P>L | Multiple mitochondrial dysfunctions syndrome 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1314414297 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1694345 rs750378027 |
2 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA49535125 rs975310478 |
3 | A>V | No |
ClinGen gnomAD |
|
|
CA347134684 rs1312689501 |
4 | T>A | No |
ClinGen gnomAD |
|
|
rs1413426881 CA347134669 |
4 | T>R | No |
ClinGen gnomAD |
|
|
CA347134660 rs1309213407 |
5 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746094022 CA1694341 |
6 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761475695 CA1694342 |
6 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs765309844 CA1694340 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49535067 rs370933870 |
8 | G>A | No |
ClinGen ESP gnomAD |
|
|
CA347134575 rs776677285 |
8 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1694338 rs776677285 |
8 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370933870 CA347134572 |
8 | G>V | No |
ClinGen ESP gnomAD |
|
|
rs1350111209 CA347134551 |
9 | W>* | No |
ClinGen TOPMed |
|
|
rs773547774 CA1694336 |
11 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773547774 CA1694335 |
11 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748407851 CA1694333 |
12 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368608126 CA1694332 |
12 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA49535033 rs374442440 |
13 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs904848123 CA49535027 |
13 | A>V | No |
ClinGen gnomAD |
|
|
CA49535022 rs539501474 |
14 | V>G | No |
ClinGen 1000Genomes |
|
|
rs749009548 CA1694331 |
14 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749009548 CA1694330 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347134383 rs1299924560 |
16 | A>D | No |
ClinGen gnomAD |
|
|
CA1694325 rs757223116 CA1694326 |
17 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1694324 rs751307193 |
17 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA49534992 rs377240857 |
19 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1694323 rs377240857 |
19 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347134349 rs1295383176 |
20 | R>G | No |
ClinGen gnomAD |
|
|
CA1694322 rs759731697 |
20 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1694300 COSM1022417 rs750469296 |
23 | C>Y | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767695988 CA1694299 |
24 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1694297 rs769320191 |
25 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA347132791 rs1327228643 |
28 | N>T | No |
ClinGen gnomAD |
|
|
rs1317957174 CA347132762 |
32 | I>M | No |
ClinGen gnomAD |
|
|
rs1558850496 CA347132759 |
33 | K>* | No |
ClinGen Ensembl |
|
|
rs1574153311 CA347132747 |
34 | K>N | No |
ClinGen Ensembl |
|
|
rs1339043479 CA347132743 RCV000591261 |
35 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
TCGA novel CA49531088 rs1004511722 |
35 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs763360655 CA1694296 |
36 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313353490 CA347132736 |
36 | P>L | No |
ClinGen gnomAD |
|
|
rs1434033701 CA347132725 |
38 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776012650 CA1694295 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1475478486 CA347132671 |
46 | F>L | No |
ClinGen gnomAD |
|
|
rs769564137 CA1694294 |
46 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347132646 rs1030062926 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA49531061 rs1030062926 |
49 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745590401 CA1694293 |
50 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1694292 rs770513953 |
52 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs746527845 CA1694291 |
55 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347130394 rs1471844973 |
56 | V>E | No |
ClinGen gnomAD |
|
|
CA1694261 rs781426610 |
57 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1467326749 CA347130348 |
59 | M>V | No |
ClinGen gnomAD |
|
|
CA1694260 rs571052491 |
60 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347130284 rs1216201310 |
61 | I>L | No |
ClinGen gnomAD |
|
|
COSM3364802 rs1558839050 CA347130253 |
61 | I>M | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs751624776 CA1694259 |
62 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1261265957 CA347130176 |
63 | T>I | No |
ClinGen TOPMed |
|
|
rs1254556998 CA347130162 |
64 | Q>* | No |
ClinGen gnomAD |
|
|
rs1206637644 CA347130102 |
66 | T>I | No |
ClinGen TOPMed |
|
|
rs924057225 CA49525349 |
68 | N>Y | No |
ClinGen TOPMed |
|
|
rs1190118425 CA347130043 |
69 | P>R | No |
ClinGen TOPMed |
|
|
rs1420368973 CA347129992 |
72 | L>* | No |
ClinGen TOPMed |
|
|
CA1694258 rs764325869 |
72 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758950363 CA1694257 |
76 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867677182 CA49525348 |
76 | P>S | No |
ClinGen Ensembl |
|
|
CA1694256 rs753296467 |
77 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA49525323 rs954746123 |
78 | K>I | No |
ClinGen Ensembl |
|
| TCGA novel | 78 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347129836 rs1485376351 |
80 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 81 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1694255 rs765693590 |
81 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1694254 rs759891909 |
84 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs765987775 CA1694252 |
86 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347129678 rs1229991252 |
88 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344984363 CA347129635 |
90 | T>I | No |
ClinGen gnomAD |
|
|
rs1437157261 CA347129631 |
91 | P>A | No |
ClinGen gnomAD |
|
|
CA1694249 rs754198001 |
92 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM356903 rs754198001 CA347129619 |
92 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs774308958 CA1694247 |
96 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774308958 CA1694246 |
96 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212890278 CA347129538 |
97 | S>F | No |
ClinGen gnomAD |
|
|
CA347129542 rs377043317 |
97 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1694244 rs377043317 |
97 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256318399 CA347129531 |
98 | P>A | No |
ClinGen gnomAD |
|
|
CA49525268 rs1018582476 |
98 | P>H | No |
ClinGen Ensembl |
|
|
rs779719733 CA1694243 |
99 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA347129523 rs1279585557 |
100 | A>S | No |
ClinGen gnomAD |
|
|
CA1694219 rs748188386 |
101 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs777966604 CA1694240 |
101 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1352952365 CA347128418 |
102 | Q>K | No |
ClinGen gnomAD |
|
|
CA1694218 rs778924871 |
102 | Q>P | No |
ClinGen ExAC TOPMed |
|
|
rs755494964 CA1694217 |
103 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1416898641 CA347128284 |
107 | E>G | No |
ClinGen gnomAD |
|
|
CA347128248 rs1558833054 |
109 | V>I | No |
ClinGen Ensembl |
|
|
rs1021842189 CA49522012 |
110 | K>* | No |
ClinGen Ensembl |
|
|
CA347128188 rs756434076 |
111 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA1694214 rs756434076 |
111 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA347128160 rs1420825937 |
112 | V>A | No |
ClinGen gnomAD |
|
|
rs750812769 CA1694213 |
112 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286750601 CA347128122 |
114 | F>V | No |
ClinGen TOPMed |
|
|
rs767100000 CA1694212 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1694210 rs751077770 |
119 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552142580 CA1694211 |
119 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335827751 CA347127975 |
120 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 121 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347126922 rs1235176737 |
124 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769275443 CA1694188 |
125 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 125 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201144794 CA49517810 |
125 | N>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs930758906 CA49517808 |
126 | E>A | No |
ClinGen gnomAD |
|
|
CA1694187 rs375766930 |
126 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 129 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1694186 TCGA novel rs759609855 |
130 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1376827536 CA347126824 |
131 | N>S | No |
ClinGen Ensembl |
|
|
rs770896590 CA1694184 |
133 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347126677 rs1373660447 |
137 | I>N | No |
ClinGen TOPMed |
|
|
rs774399970 CA1694183 |
140 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49517777 rs749796927 |
140 | T>R | No |
ClinGen TOPMed |
|
|
CA347126550 rs917257642 |
144 | F>I | No |
ClinGen Ensembl |
|
|
CA1694181 rs749272908 |
144 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs917257642 CA49517742 |
144 | F>V | No |
ClinGen Ensembl |
|
|
CA1694179 rs766567121 |
149 | L>LLHQ* | No |
ClinGen ExAC |
|
|
rs1558826146 CA347126360 |
150 | P>L | No |
ClinGen Ensembl |
|
|
rs1211680474 CA347126324 |
152 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747420560 CA1694172 |
155 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA347126206 rs1228890138 |
156 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347126194 rs1229895168 |
156 | T>I | No |
ClinGen gnomAD |
|
|
COSM722013 CA347126154 rs1314130766 |
158 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1694171 rs777232071 |
159 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1463024678 CA347126122 |
160 | E>D | No |
ClinGen TOPMed |
|
|
CA1694170 rs758074085 |
160 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1694169 rs752245896 |
161 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA347126097 rs1355589182 |
162 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1420479231 CA347124041 |
163 | S>T | No |
ClinGen gnomAD |
|
|
rs757971255 CA1694148 |
166 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347123929 rs1472572322 |
169 | V>A | No |
ClinGen TOPMed |
|
|
rs747848274 CA1694146 |
171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs923205439 CA49510744 |
172 | M>T | No |
ClinGen Ensembl |
|
|
rs1237790068 CA347123870 |
173 | I>T | No |
ClinGen gnomAD |
|
|
rs1162941113 CA347123859 |
175 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 177 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347123834 rs1232501532 |
178 | D>G | No |
ClinGen gnomAD |
|
|
CA1694143 rs200917085 |
178 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA49510710 rs199986005 |
179 | T>I | No |
ClinGen ESP |
|
| TCGA novel | 180 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360499544 CA347123584 |
183 | P>A | No |
ClinGen gnomAD |
|
|
CA347123580 rs1156891721 |
183 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA347123578 rs1455686870 |
184 | T>A | No |
ClinGen gnomAD |
|
|
CA347123562 rs1558807049 |
186 | Q>H | No |
ClinGen Ensembl |
|
|
CA1694114 rs759821535 |
186 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA49506584 rs866837667 COSM1185927 |
190 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs753844643 CA1694113 |
191 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766526468 CA1694112 |
192 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA347123516 rs1574108966 |
193 | I>S | No |
ClinGen Ensembl |
|
|
rs368634264 CA1694111 |
195 | K>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1216348059 CA347123487 |
197 | F>L | No |
ClinGen gnomAD |
|
|
CA347123485 rs1487909509 |
198 | E>Q | No |
ClinGen gnomAD |
|
|
CA347123456 rs1283847385 |
202 | V>I | No |
ClinGen gnomAD |
|
|
rs773726192 CA1694110 |
205 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348053487 CA347123427 |
206 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA49506579 rs267599427 |
207 | Q>* | No |
ClinGen Ensembl |
|
|
CA347123392 rs1436167378 |
212 | S>G | No |
ClinGen gnomAD |
|
|
CA347123387 rs1272262379 |
212 | S>R | No |
ClinGen gnomAD |
|
|
rs1034692554 CA49506577 |
213 | C>Y | No |
ClinGen TOPMed |
|
|
CA49506557 rs893554614 |
214 | P>R | No |
ClinGen Ensembl |
|
|
CA347123359 rs1431976985 |
217 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1431976985 CA347123358 |
217 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347123348 rs1574108856 |
218 | I>T | No |
ClinGen Ensembl |
|
|
rs779410078 CA1694105 |
220 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA347123334 rs1262744797 |
221 | K>* | No |
ClinGen TOPMed |
|
|
CA1694104 rs769388519 |
225 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs757189744 CA1694101 |
227 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1694100 rs751350886 |
231 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA49506476 rs890733293 |
233 | P>S | No |
ClinGen Ensembl |
|
|
rs1451466648 CA347123233 |
235 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1451466648 CA347123234 |
235 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347123236 rs1558806675 |
235 | V>L | No |
ClinGen Ensembl |
|
|
rs1574108727 CA347123230 |
236 | E>K | No |
ClinGen Ensembl |
|
|
CA1694094 rs750485783 |
238 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750485783 CA347123202 |
238 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308859105 CA347123191 |
239 | E>K | No |
ClinGen gnomAD |
|
|
CA1694092 rs143214599 |
240 | Q>K | No |
ClinGen ESP ExAC |
|
|
CA49506443 rs1037869290 |
240 | Q>R | No |
ClinGen gnomAD |
|
|
CA1694060 rs764935735 |
241 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1361143939 CA347122750 |
241 | V>G | No |
ClinGen gnomAD |
|
|
rs764935735 CA1694059 |
241 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1298599786 CA347122742 |
242 | M>I | No |
ClinGen TOPMed |
|
|
rs542480887 CA1694057 |
243 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1396495424 CA347122724 |
245 | E>* | No |
ClinGen gnomAD |
|
|
CA347122722 rs1396495424 |
245 | E>K | No |
ClinGen gnomAD |
|
|
rs576696827 CA1694056 |
246 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347122703 rs1434059940 |
248 | E>K | No |
ClinGen gnomAD |
|
|
CA1694054 rs557124306 |
251 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347122672 rs1487125911 |
252 | N>H | No |
ClinGen gnomAD |
|
|
rs766300827 CA49503628 |
253 | S>A | No |
ClinGen Ensembl |
|
|
rs954348551 CA49503612 |
255 | P>K | No |
ClinGen Ensembl |
1 associated diseases with Q9UMS0
[MIM: 605711]: Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269|PubMed:21944046, ECO:0000269|PubMed:22077971, ECO:0000269|PubMed:25918518, ECO:0000269|PubMed:28161430, ECO:0000269|PubMed:28906594}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269|PubMed:21944046, ECO:0000269|PubMed:22077971, ECO:0000269|PubMed:25918518, ECO:0000269|PubMed:28161430, ECO:0000269|PubMed:28906594}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| 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. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| iron ion binding | Binding to an iron (Fe) ion. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| iron-sulfur cluster assembly | The incorporation of iron and exogenous sulfur into a metallo-sulfur cluster. |
| protein maturation by iron-sulfur cluster transfer | The transfer of an assembled iron-sulfur cluster from a scaffold protein to an acceptor protein that contributes to the attainment of the full functional capacity of a protein. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32860 | NFU1 | NifU-like protein, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8SY96 | CG32500; | NFU1 iron-sulfur cluster scaffold homolog, mitochondrial | Drosophila melanogaster (Fruit fly) | PR |
| Q9QZ23 | Nfu1 | NFU1 iron-sulfur cluster scaffold homolog, mitochondrial | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAATARRGWG | AAAVAAGLRR | RFCHMLKNPY | TIKKQPLHQF | VQRPLFPLPA | AFYHPVRYMF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IQTQDTPNPN | SLKFIPGKPV | LETRTMDFPT | PAAAFRSPLA | RQLFRIEGVK | SVFFGPDFIT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTKENEELDW | NLLKPDIYAT | IMDFFASGLP | LVTEETPSGE | AGSEEDDEVV | AMIKELLDTR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRPTVQEDGG | DVIYKGFEDG | IVQLKLQGSC | TSCPSSIITL | KNGIQNMLQF | YIPEVEGVEQ |
| 250 | |||||
| VMDDESDEKE | ANSP |