CYC1 cytochrome c1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CYC1provided by HGNC
Official Full Name: cytochrome c1provided by HGNC
Primary source: HGNC:HGNC:2579
See related: Ensembl:ENSG00000179091 MIM:123980; AllianceGenome:HGNC:2579
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: UQCR4; MC3DN6
Summary: This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]
Expression: Ubiquitous expression in heart (RPKM 77.6), duodenum (RPKM 50.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144095076..144097525)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145255893..145258315)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145149979..145152428)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Physical contact between cytochrome c1 and cytochrome c increases the driving force for electron transfer.
Title: Physical contact between cytochrome c(1) and cytochrome c increases the driving force for electron transfer.
CYC1 inhibits cell proliferation, glycolytic activity and increases chemosensitivity to paclitaxel in ER-positive breast carcinoma cells
Title: Cytochrome c1 as a favorable prognostic marker in estrogen receptor-positive breast carcinoma.
these results indicate that CYC1 plays important roles in cell proliferation and comedo necrosis through the elevated oxidative phosphorylation activity in human ductal carcinoma in situ
Title: Cytochrome c1 in ductal carcinoma in situ of breast associated with proliferation and comedo necrosis.
results indicate that miR-661 plays a tumor suppressor role in OS mediated by the downregulation of CYC1, suggesting a potential mechanism underlying cell death resistance in Osteosarcoma.
Title: MicroRNA-661 Enhances TRAIL or STS Induced Osteosarcoma Cell Apoptosis by Modulating the Expression of Cytochrome c1.
CYC1 promoted tumor metastasis via suppressing activation of AMPK and contributed to tumor growth via facilitating production of ATP.
Title: CYC1 Predicts Poor Prognosis in Patients with Breast Cancer.
FASL, granzyme B, and cytochrome c blood expression reflects breast cancer progression and response to therapy. (Review)
Title: Apoptosis Markers in Breast Cancer Therapy.
our results provide evidence that CYC1 plays an important role in OS tumorigenesis, and modulation of CYC1 may be an effective strategy to potentiate OS to apoptotic induction by TRAIL.
Title: CYC1 silencing sensitizes osteosarcoma cells to TRAIL-induced apoptosis.
Mutations in CYC1 cause insulin-responsive hyperglycemia.
Title: Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
HeLa cells expressing non-cleavable cytochrome c1 maintain mitochondrial morphology and functions.
Title: Caspase cleavage of cytochrome c1 disrupts mitochondrial function and enhances cytochrome c release.
Decreased electron Transport Complex IV activity is associated with ulcerative colitis.
Title: Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex III deficiency nuclear type 6 MedGen: C3809553 OMIM: 615453 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of cytochrome c-1 (CYC1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heme binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquinol-cytochrome-c reductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, ubiquinol to cytochrome c	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to glucagon	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	HDA more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	HDA more info	PubMed
part_of respiratory chain complex III	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome c1, heme protein, mitochondrial

Names: complex III subunit 4; complex III subunit IV; cytochrome b-c1 complex subunit 4; cytochrome c-1; ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit

NP_001907.3

EC 7.1.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033872.2 RefSeqGene

Range

5002..7451

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001916.5 → NP_001907.3 cytochrome c1, heme protein, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AC104592

Consensus CDS

CCDS6415.1

UniProtKB/Swiss-Prot

P08574, Q5U062, Q6FHS7

UniProtKB/TrEMBL

Q8TBT6

Related

ENSP00000317159.4, ENST00000318911.5

Conserved Domains (1) summary

pfam02167
Location:96 → 314

Cytochrom_C1; Cytochrome C1 family