CYCS (cytochrome c, somatic)
|
Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
54205 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Cytochrome c, somatic |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
CYCS |
SynonymsGene synonyms aliases
|
CYC, HCS, THC4 |
ChromosomeChromosome number
|
7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
7p15.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and tran |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs121918552 |
C>T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs886037737 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs1562515878 |
TTT>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs1583394629 |
G>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000159 |
Component |
Protein phosphatase type 2A complex |
TAS |
8206937 |
GO:0004722 |
Function |
Protein serine/threonine phosphatase activity |
TAS |
8206937 |
GO:0005515 |
Function |
Protein binding |
IPI |
9267021, 10206961, 25241761, 25416956, 25595453, 25910212, 32296183, 32814053 |
GO:0005634 |
Component |
Nucleus |
HDA |
21630459 |
GO:0005634 |
Component |
Nucleus |
IDA |
|
GO:0005739 |
Component |
Mitochondrion |
HDA |
20833797 |
GO:0005739 |
Component |
Mitochondrion |
IDA |
12107093, 20671748 |
GO:0005743 |
Component |
Mitochondrial inner membrane |
TAS |
|
GO:0005758 |
Component |
Mitochondrial intermembrane space |
IBA |
21873635 |
GO:0005758 |
Component |
Mitochondrial intermembrane space |
IDA |
19393246 |
GO:0005758 |
Component |
Mitochondrial intermembrane space |
TAS |
8689682 |
GO:0005829 |
Component |
Cytosol |
IDA |
12107093 |
GO:0005829 |
Component |
Cytosol |
IMP |
8689682 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006122 |
Process |
Mitochondrial electron transport, ubiquinol to cytochrome c |
IBA |
21873635 |
GO:0006123 |
Process |
Mitochondrial electron transport, cytochrome c to oxygen |
IBA |
21873635 |
GO:0006470 |
Process |
Protein dephosphorylation |
IEA |
|
GO:0006915 |
Process |
Apoptotic process |
IEA |
|
GO:0007005 |
Process |
Mitochondrion organization |
TAS |
|
GO:0008635 |
Process |
Activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c |
TAS |
9267021 |
GO:0020037 |
Function |
Heme binding |
TAS |
9515723 |
GO:0034599 |
Process |
Cellular response to oxidative stress |
TAS |
|
GO:0043280 |
Process |
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic process |
IBA |
21873635 |
GO:0045333 |
Process |
Cellular respiration |
TAS |
|
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0070469 |
Component |
Respirasome |
IEA |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P99999 |
Protein name |
Cytochrome c |
Protein function |
Electron carrier protein. The oxidized form of the cytochrome c heme group can accept an electron from the heme group of the cytochrome c1 subunit of cytochrome reductase. Cytochrome c then transfers this electron to the cytochrome oxidase compl |
PDB |
1J3S
,
2N3Y
,
2N9I
,
2N9J
,
3NWV
,
3ZCF
,
3ZOO
,
5EXQ
,
5O10
,
5TY3
,
6DUJ
,
6ECJ
,
6XNK
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00034 |
Cytochrom_C |
4 → 103 |
Cytochrome c |
Domain |
|
Sequence |
|
Sequence length |
105 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Alzheimer disease |
Alzheimer`s Disease |
rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 |
23535033 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
16317704 |
Thrombocytopenia |
Thrombocytopenia 4 |
rs121908064, rs104894816, rs132630269, rs132630270, rs132630273, rs5030764, rs80338831, rs28928907, rs121909752, rs121918552, rs863223318, rs267607337, rs587778516, rs146249964, rs587776456, rs724159947, rs724159946, rs724159945, rs886037737, rs786205155, rs879255268, rs782290433, rs1057517845, rs886039451, rs1060505056, rs745672593, rs1064797085, rs1555144911, rs139265251, rs1557007312, rs1569061762, rs1569061768, rs1060502579, rs1569494025, rs1562515878, rs1569008655, rs774867424, rs1589393759, rs1589393799, rs1589393809, rs1591749480, rs1594758038, rs1594758046, rs747559032, rs1597638598, rs1597638681, rs1597638745, rs1597638753, rs1597639057, rs1601239459, rs121912499, rs1569061786, rs1601248210, rs536874549, rs1601248859, rs1360071443, rs1577005203, rs1583394629, rs1591750551, rs1569084106, rs1601515718, rs1589257502, rs1602180058 |
18345000, 24326104, 30051457 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebral ischemia |
Brain Ischemia, Brain Stem Ischemia, Transient, Transient Cerebral Ischemia |
|
11756504, 11333366 |
Fatty liver |
Fatty Liver, Steatohepatitis |
|
10860543 |
Thrombocytopenia with normal platelets |
Autosomal thrombocytopenia with normal platelets |
|
|
Transient ischemic attack |
Transient Ischemic Attack, Posterior Circulation Transient Ischemic Attack, Carotid Circulation Transient Ischemic Attack, Transient Ischemic Attack, Vertebrobasilar Circulation, Crescendo Transient Ischemic Attacks, Transient Ischemic Attack, Anterior Circulation |
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11333366 |
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