Q5U5X0
PR
Gene name |
LYRM7 (C5orf31, MZM1L) |
Protein name |
Complex III assembly factor LYRM7 |
Names |
LYR motif-containing protein 7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90624 |
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 Q5U5X0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5U5X0-F1 | Predicted | AlphaFoldDB |
75 variants for Q5U5X0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000208752 rs869025605 RCV000728000 |
13 | T>missing | Mitochondrial complex III deficiency nuclear type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777433 RCV000122742 VAR_071187 CA163124 |
25 | D>N | Mitochondrial complex III deficiency nuclear type 8 MC3DN8; results in impaired incorporation of the Rieske Fe-S protein into the CIII complex [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs869025603 RCV000208761 |
66 | L>missing | Mitochondrial complex III deficiency nuclear type 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000208772 CA352207 rs869025604 |
72 | Q>* | Mitochondrial complex III deficiency nuclear type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360837742 rs869025604 RCV000791101 |
72 | Q>E | Mitochondrial complex III deficiency nuclear type 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002221625 rs199579347 CA3398803 RCV001328805 |
88 | D>E | Mitochondrial complex III deficiency nuclear type 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs531275086 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755037848 CA3398699 |
2 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752799944 CA3398701 |
3 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779124948 CA3398700 |
3 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1368424392 CA360839240 |
5 | V>L | No |
ClinGen TOPMed |
|
|
rs758247857 CA3398702 |
6 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA360839251 rs1347420866 |
6 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA360839279 rs1363826532 |
9 | Q>E | No |
ClinGen gnomAD |
|
|
CA360839301 rs1157286475 |
12 | K>E | No |
ClinGen gnomAD |
|
|
CA360839310 rs1253974640 |
13 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3398723 rs757100338 |
17 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3398727 rs779381151 |
21 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3398728 rs748801787 |
23 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 24 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774040030 CA3398730 |
26 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 27 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360839430 rs1331352206 |
31 | A>T | No |
ClinGen TOPMed |
|
|
CA3398751 rs758941942 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3398753 rs200336982 |
34 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001172170 CA360839460 rs200336982 |
34 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1299673359 CA360839470 |
35 | K>M | No |
ClinGen TOPMed |
|
|
rs1561544870 CA360839476 |
36 | I>T | No |
ClinGen Ensembl |
|
|
rs1464475496 CA360839483 |
37 | N>S | No |
ClinGen TOPMed |
|
|
CA3398754 rs199715117 RCV000888983 |
38 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3398755 rs762952204 |
41 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764166987 CA3398756 |
44 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774745145 CA3398757 |
44 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3398759 rs762075975 |
47 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA127817208 rs909888327 |
47 | T>P | No |
ClinGen TOPMed |
|
|
CA3398760 rs767824191 |
48 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs373893622 CA3398762 |
50 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561544923 CA360839584 |
51 | K>N | No |
ClinGen Ensembl |
|
|
CA360839592 rs1485745985 |
52 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA360839590 COSM1060518 rs1257249631 |
52 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA360839604 rs1489543466 |
54 | E>G | No |
ClinGen gnomAD |
|
|
CA3398763 rs766241507 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA360837635 rs1453976601 |
55 | L>P | No |
ClinGen gnomAD |
|
|
CA360837644 rs1191857668 |
56 | M>I | No |
ClinGen gnomAD |
|
|
rs1580696967 CA360837659 |
58 | I>M | No |
ClinGen Ensembl |
|
|
rs770133810 CA3398776 |
58 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA360837664 rs1402379941 |
59 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451408894 CA360837675 |
61 | D>G | No |
ClinGen gnomAD |
|
|
CA3398777 rs780426663 |
61 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1017347784 CA127817689 |
62 | V>A | No |
ClinGen gnomAD |
|
|
rs11542937 CA3398778 |
62 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA360837699 rs1158208211 |
65 | L>V | No |
ClinGen TOPMed |
|
|
CA360837720 rs1439651030 |
68 | T>A | No |
ClinGen gnomAD |
|
|
CA127817691 rs775931558 |
69 | S>C | No |
ClinGen Ensembl |
|
|
rs768640966 CA3398779 |
70 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3398781 rs146610687 |
77 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA3398783 rs761951324 |
78 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772481490 CA3398784 |
79 | N>T | No |
ClinGen ExAC |
|
|
rs777411963 CA3398801 |
82 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360837807 rs1190710895 |
82 | K>Q | No |
ClinGen TOPMed |
|
|
rs1201547282 CA360837841 |
84 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs926227440 CA127819010 |
85 | P>T | No |
ClinGen TOPMed |
|
|
CA360837864 rs1334549454 |
87 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3398804 rs780417046 |
92 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3398805 rs528669849 |
93 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551999874 CA3398808 |
96 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3398809 rs772212804 |
97 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360837948 rs1418465463 |
98 | D>N | No |
ClinGen gnomAD |
|
|
rs773600327 CA3398810 |
101 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA360837991 rs1489462963 |
104 | Q>R | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q5U5X0
[MIM: 615838]: Mitochondrial complex III deficiency, nuclear 8 (MC3DN8)
A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:24014394}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:24014394}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein folding chaperone | Binding to a protein or a protein-containing complex to assist the protein folding process. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular respiration | The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). |
| mitochondrial respiratory chain complex III assembly | The aggregation, arrangement and bonding together of a set of components to form the cytochrome bc(1) complex (also known as ubiquinol-cytochrome c reductase), in the mitochondrial inner membrane. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRAVKVLQL | FKTLHRTRQQ | VFKNDARALE | AARIKINEEF | KNNKSETSSK | KIEELMKIGS |
| 70 | 80 | 90 | 100 | ||
| DVELLLRTSV | IQGIHTDHNT | LKLVPRKDLL | VENVPYCDAP | TQKQ |