Human Gene CYCS (ENST00000305786.6) Description and Page Index
Description: Homo sapiens cytochrome c, somatic (CYCS), mRNA. (from RefSeq NM_018947) RefSeq Summary (NM_018947): 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 transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AL713681.1, BC009582.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000305786.7/ ENSP00000307786.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gencode Transcript: ENST00000305786.6 Gencode Gene: ENSG00000172115.8 Transcript (Including UTRs) Position: hg38 chr7:25,120,091-25,125,361 Size: 5,271 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr7:25,123,701-25,124,119 Size: 419 Coding Exon Count: 2
ID:CYC_HUMAN DESCRIPTION: RecName: Full=Cytochrome c; 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 complex, the final protein carrier in the mitochondrial electron-transport chain. FUNCTION: Plays a role in apoptosis. Suppression of the anti- apoptotic members or activation of the pro-apoptotic members of the Bcl-2 family leads to altered mitochondrial membrane permeability resulting in release of cytochrome c into the cytosol. Binding of cytochrome c to Apaf-1 triggers the activation of caspase-9, which then accelerates apoptosis by activating other caspases. INTERACTION: O14727:APAF1; NbExp=6; IntAct=EBI-446479, EBI-446492; SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Note=Loosely associated with the inner membrane. PTM: Binds 1 heme group per subunit. PTM: Phosphorylation at Tyr-49 and Tyr-98 both reduce by half the turnover in the reaction with cytochrome c oxidase, down- regulating mitochondrial respiration (By similarity). DISEASE: Defects in CYCS are the cause of thrombocytopenia type 4 (THC4) [MIM:612004]; also known as autosomal dominant thrombocytopenia type 4. Thrombocytopenia is the presence of relatively few platelets in blood. THC4 is a non-syndromic form of thrombocytopenia. Clinical manifestations of thrombocytopenia are absent or mild. THC4 may be caused by dysregulated platelet formation. SIMILARITY: Belongs to the cytochrome c family. WEB RESOURCE: Name=Protein Spotlight; Note=Life shuttle - Issue 76 of November 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt076.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P99999
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0009055 electron carrier activity GO:0020037 heme binding GO:0045155 electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity GO:0046872 metal ion binding GO:0004722 protein serine/threonine phosphatase activity
Biological Process: GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006123 mitochondrial electron transport, cytochrome c to oxygen GO:0006470 protein dephosphorylation GO:0006915 apoptotic process GO:0007005 mitochondrion organization GO:0008635 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0034599 cellular response to oxidative stress GO:0045333 cellular respiration GO:0055114 oxidation-reduction process GO:0097193 intrinsic apoptotic signaling pathway