CYC1 (cytochrome c1)

Gene Basic Information

Gene Basic Information

symbol:
CYC1
locus group:
protein-coding gene
location:
8q24.3
gene_family:
Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits
alias symbol:
UQCR4
alias name:
None
entrez id:
1537
ensembl gene id:
ENSG00000179091
ucsc gene id:
uc003zaz.6
refseq accession:
NM_001916
hgnc_id:
HGNC:2579
approved reserved:
1988-07-06

Chromosome Location

Chromosome Location

8q24.3

Gene Summary

Gene Summary

CYC1基因编码细胞色素c1，这是一种位于线粒体内膜的关键蛋白质，属于细胞色素bc1复合体（复合体III）的一部分，参与电子传递链（ETC）的氧化磷酸化过程。细胞色素c1作为电子载体，接受来自泛醌的电子并传递给细胞色素c，推动质子跨膜运输，促进ATP合成。该基因属于细胞色素c家族，该家族成员均含有血红素辅基，负责电子传递和能量转换。CYC1突变可能导致线粒体功能障碍，引发能量代谢疾病如 Leigh综合征或心肌病，表现为肌肉无力、神经退行性变等。若CYC1过表达，可能增强ETC效率，但过量电子泄漏会产生活性氧（ROS），导致氧化损伤；而表达降低则削弱ATP生成，引发细胞凋亡或组织衰竭。CYC1与多种疾病相关，包括神经退行性疾病（如帕金森病）和癌症，其表达异常可能通过影响能量代谢促进肿瘤生长或转移。该基因的调控对维持线粒体稳态至关重要，其家族成员（如CYC2、CYC3）在不同物种中保守存在，均参与电子传递或抗氧化防御。

ChineseEnglish

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]

OMIM entry for CYC1     Wikipedia entry for CYC1

Gene Sequence

Gene Sequence

Nucleotide sequence of CYC1:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MAAAAASLRG VVLGPRGAGL PGARARGLLC SARPGQLPLR
41TPQAVALSSK SGLSRGRKVM LSALGMLAAG GAGLAMALHS
81 AVSASDLEL HPPSYPWSHR GLLSSLDHTS IRRGFQVYKQ
121VCASCHSMDF VAYRHLVGVC YTEDEAKELA AEVEVQDGPN
161E DGEMFMRP GKLFDYFPKP YPNSEAARAA NNGALPPDLS
201YIVRARHGGE DYVFSLLTGY CEPPTGVSLR EGLYFNPYFP
241GQ AIAMAPP IYTDVLEFDD GTPATMSQIA KDVCTFLRWA
281SEPEHDHRKR MGLKMLMMMA LLVPLVYTIK RHKWSVLKSR
321KLA YRPPK
结构预测来自 AlphaFold DB（UniProt: P08574），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of CYC1:           Showing partial SNPs
rs1071599       rs1126919       rs2070688       rs2230226       rs3211463       rs3211523       rs6984764       rs7462703       rs7820984       rs11541475       rs11780874       rs11784574       rs13255347       rs13256214       rs17415211       rs28398315       rs34079855      

Gene Expression

Gene Expression

Tissue expression of CYC1:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
TTAGAGTTTGACGATGGCAC
58
TTCTCTGATACCCACCATGG
59
CCAGATAGCCAAGGATGTG
58
CATCATCAACATCTTGAGCC
57
TAGAGTTTGACGATGGCAC
57
GCTTTATGGTGTAGACCAGG
58
CCAGATAGCCAAGGATGTG
58
CATCATCAACATCTTGAGCC
57
GAAAGTGATGCTGTCAGCG
60
GTCTTGAACCTCCACCTCC
60
TTAGAGTTTGACGATGGCAC
58
TCTCTGATACCCACCATGG
58
TAGAGTTTGACGATGGCAC
57
CTTTATGGTGTAGACCAGGG
57
CCAGATAGCCAAGGATGTG
58
ATCATCAACATCTTGAGCCC
58
TCTCTTCCTTGGACCACAC
59
GTCTTGAACCTCCACCTCC
60
CCAGATAGCCAAGGATGTG
58
ATCATCAACATCTTGAGCCC
58

Transcription Factors

Transcription Factors

Transcription Factors
Target Gene
Interaction Type
PubMed References
E2F6
CYC1
Unknown
10998368

Gene Ontology

Subcellular localization of CYC1 (and its protein):

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for CYC1:

GO ID
Protein
Source DB
GO:0005634
P08574 (UniProtKB)
IDA
GO:0005739
P08574 (UniProtKB)
IDA
GO:0005739
P08574 (UniProtKB)
IDA
GO:0005743
P08574 (UniProtKB)
TAS
GO:0006122
P08574 (UniProtKB)
TAS
GO:0016020
P08574 (UniProtKB)
IDA
GO:0016021
P08574 (UniProtKB)
IEA
GO:0020037
P08574 (UniProtKB)
IEA
GO:0033762
P08574 (UniProtKB)
IEA
GO:0045155
P08574 (UniProtKB)
TAS
GO:0046872
P08574 (UniProtKB)
IEA
GO:0070469
P08574 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating CYC1:     

Gene Interactions

Gene Interactions

String
BioGrid
IntAct
mentha
MINT
Reactome
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 0.24 1 2 CLINVAR_UNIPROT
Malignant neoplasm of ovary 0.002367032 1 0 GAD
Osteosarcoma of bone 0.000542884 2 0 BeFree
Osteosarcoma 0.000542884 2 0 BeFree
Xenograft Model 0.000271442 1 0 BeFree
Carcinogenesis 0.000271442 1 0 BeFree
Polycystic Ovary Syndrome 0.000271442 1 0 BeFree

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