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P08574 (CY1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 142. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome c1, heme protein, mitochondrial
Alternative name(s):
Complex III subunit 4
Complex III subunit IV
Cytochrome b-c1 complex subunit 4
Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit
Short name=Cytochrome c-1
Gene names
Name:CYC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length325 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

This is the heme-containing component of the cytochrome b-c1 complex, which accepts electrons from Rieske protein and transfers electrons to cytochrome c in the mitochondrial respiratory chain.

Subunit structure

The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

Subcellular location

Mitochondrion inner membrane; Single-pass membrane protein; Intermembrane side.

Post-translational modification

Binds 1 heme group per subunit.

Involvement in disease

Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453]: An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Sequence similarities

Belongs to the cytochrome c family.

Contains 1 cytochrome c domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 8484Mitochondrion
Chain85 – 325241Cytochrome c1, heme protein, mitochondrial
PRO_0000006554

Regions

Transmembrane292 – 30615Helical; Note=Anchors to the membrane; Potential
Domain108 – 209102Cytochrome c

Sites

Metal binding1251Iron (heme axial ligand)
Metal binding2441Iron (heme axial ligand) By similarity
Binding site1211Heme (covalent)
Binding site1241Heme (covalent)

Natural variations

Natural variant761M → V. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7
Corresponds to variant rs7820984 [ dbSNP | Ensembl ].
VAR_025163
Natural variant891L → V. Ref.1 Ref.10
VAR_013631
Natural variant961W → C in MC3DN6. Ref.11
VAR_070847
Natural variant2151L → F in MC3DN6. Ref.11
VAR_070848

Sequences

Sequence LengthMass (Da)Tools
P08574 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: CC8EA2E60E96BBDC

FASTA32535,422
        10         20         30         40         50         60 
MAAAAASLRG VVLGPRGAGL PGARARGLLC SARPGQLPLR TPQAVALSSK SGLSRGRKVM 

        70         80         90        100        110        120 
LSALGMLAAG GAGLAMALHS AVSASDLELH PPSYPWSHRG LLSSLDHTSI RRGFQVYKQV 

       130        140        150        160        170        180 
CASCHSMDFV AYRHLVGVCY TEDEAKELAA EVEVQDGPNE DGEMFMRPGK LFDYFPKPYP 

       190        200        210        220        230        240 
NSEAARAANN GALPPDLSYI VRARHGGEDY VFSLLTGYCE PPTGVSLREG LYFNPYFPGQ 

       250        260        270        280        290        300 
AIAMAPPIYT DVLEFDDGTP ATMSQIAKDV CTFLRWASEP EHDHRKRMGL KMLMMMALLV 

       310        320 
PLVYTIKRHK WSVLKSRKLA YRPPK 

« Hide

References

« Hide 'large scale' references
[1]"Nucleotide sequence of a cDNA encoding the precursor to human cytochrome c1."
Nishikimi M., Ohta S., Suzuki H., Tanaka T., Kikkawa F., Tanaka M., Kagawa Y., Ozawa T.
Nucleic Acids Res. 16:3577-3577(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS VAL-76 AND VAL-89.
[2]"Structural organization of the human mitochondrial cytochrome c1 gene."
Suzuki H., Hosokawa Y., Nishikimi M., Ozawa T.
J. Biol. Chem. 264:1368-1374(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-76.
[3]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-76.
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]NIEHS SNPs program
Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-76.
[6]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-76.
Tissue: Brain, Lung and Skin.
[8]"Isolation of a cDNA clone for human cytochrome c1 from a lambda gt11 expression library."
Nishikimi M., Suzuki H., Ohta S., Sakurai T., Shimomura Y., Tanaka M., Kagawa Y., Ozawa T.
Biochem. Biophys. Res. Commun. 145:34-39(1987) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-325.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency."
Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A.
Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT VAL-89.
[11]"Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia."
Gaignard P., Menezes M., Schiff M., Bayot A., Rak M., Ogier de Baulny H., Su C.H., Gilleron M., Lombes A., Abida H., Tzagoloff A., Riley L., Cooper S.T., Mina K., Sivadorai P., Davis M.R., Allcock R.J., Kresoje N. expand/collapse author list , Laing N.G., Thorburn D.R., Slama A., Christodoulou J., Rustin P.
Am. J. Hum. Genet. 93:384-389(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MC3DN6 CYS-96 AND PHE-215.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M16597 mRNA. Translation: AAA35730.1.
J04444 Genomic DNA. Translation: AAA52135.1.
CR541674 mRNA. Translation: CAG46475.1.
BT019798 mRNA. Translation: AAV38601.1.
DQ300360 Genomic DNA. Translation: ABB96244.1.
AC104592 Genomic DNA. No translation available.
BC001006 mRNA. Translation: AAH01006.1.
BC015616 mRNA. Translation: AAH15616.1.
BC020566 mRNA. Translation: AAH20566.1.
X06994 mRNA. Translation: CAA30052.1.
PIRS00680. A31481.
RefSeqNP_001907.2. NM_001916.4.
UniGeneHs.289271.

3D structure databases

ProteinModelPortalP08574.
SMRP08574. Positions 85-325.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107917. 26 interactions.
IntActP08574. 6 interactions.
MINTMINT-3006365.
STRING9606.ENSP00000317159.

PTM databases

PhosphoSiteP08574.

Polymorphism databases

DMDM311033458.

Proteomic databases

PaxDbP08574.
PRIDEP08574.

Protocols and materials databases

DNASU1537.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000318911; ENSP00000317159; ENSG00000179091.
GeneID1537.
KEGGhsa:1537.
UCSCuc003zay.3. human.

Organism-specific databases

CTD1537.
GeneCardsGC08P145149.
HGNCHGNC:2579. CYC1.
HPAHPA001247.
MIM123980. gene.
615453. phenotype.
neXtProtNX_P08574.
Orphanet1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBPA27077.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2857.
HOGENOMHOG000003867.
HOVERGENHBG001239.
InParanoidP08574.
KOK00413.
OMAMAPPIYT.
OrthoDBEOG7GBFX7.
PhylomeDBP08574.
TreeFamTF314799.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_17015. Metabolism of proteins.

Gene expression databases

BgeeP08574.
CleanExHS_CYC1.
GenevestigatorP08574.

Family and domain databases

Gene3D1.10.760.10. 1 hit.
InterProIPR009056. Cyt_c-like_dom.
IPR002326. Cyt_c1.
IPR021157. Cyt_c1_TM_anchor_C.
[Graphical view]
PANTHERPTHR10266. PTHR10266. 1 hit.
PfamPF02167. Cytochrom_C1. 1 hit.
[Graphical view]
PRINTSPR00603. CYTOCHROMEC1.
SUPFAMSSF46626. SSF46626. 1 hit.
SSF81496. SSF81496. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCYC1. human.
GeneWikiCYC1.
GenomeRNAi1537.
NextBio6357.
PROP08574.
SOURCESearch...

Entry information

Entry nameCY1_HUMAN
AccessionPrimary (citable) accession number: P08574
Secondary accession number(s): Q5U062, Q6FHS7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 142 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM