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P00167

- CYB5_HUMAN

UniProt

P00167 - CYB5_HUMAN

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Protein

Cytochrome b5

Gene

CYB5A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi44 – 441Iron (heme axial ligand)
Metal bindingi68 – 681Iron (heme axial ligand)

GO - Molecular functioni

  1. aldo-keto reductase (NADP) activity Source: Reactome
  2. cytochrome-c oxidase activity Source: ProtInc
  3. enzyme binding Source: BHF-UCL
  4. heme binding Source: InterPro
  5. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. hydrogen ion transmembrane transport Source: GOC
  2. L-ascorbic acid metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
  4. vitamin metabolic process Source: Reactome
  5. water-soluble vitamin metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Transport

Keywords - Ligandi

Heme, Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000166347-MONOMER.
ReactomeiREACT_11202. Vitamin C (ascorbate) metabolism.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome b5
Alternative name(s):
Microsomal cytochrome b5 type A
Short name:
MCB5
Gene namesi
Name:CYB5A
Synonyms:CYB5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:2570. CYB5A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei109 – 13123HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. extracellular vesicular exosome Source: UniProt
  3. integral component of membrane Source: UniProtKB-KW
  4. membrane Source: UniProtKB
  5. mitochondrial outer membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Methemoglobinemia CYB5A-related (METHB-CYB5A) [MIM:250790]: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi250790. phenotype.
Orphaneti90796. 46,XY disorder of sex development due to isolated 17,20 lyase deficiency.
PharmGKBiPA27068.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed5 Publications
Chaini2 – 134133Cytochrome b5PRO_0000166010Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei10 – 101N6-acetyllysineBy similarity
Modified residuei19 – 191N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP00167.
PaxDbiP00167.
PRIDEiP00167.

PTM databases

PhosphoSiteiP00167.

Expressioni

Gene expression databases

BgeeiP00167.
CleanExiHS_CYB5A.
ExpressionAtlasiP00167. baseline and differential.
GenevestigatoriP00167.

Organism-specific databases

HPAiCAB006333.

Interactioni

Protein-protein interaction databases

BioGridi107908. 18 interactions.
IntActiP00167. 4 interactions.
MINTiMINT-3003425.
STRINGi9606.ENSP00000341625.

Structurei

Secondary structure

1
134
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi3 – 53Combined sources
Helixi14 – 174Combined sources
Helixi18 – 203Combined sources
Beta strandi25 – 3612Combined sources
Turni38 – 436Combined sources
Helixi49 – 524Combined sources
Beta strandi55 – 584Combined sources
Helixi61 – 655Combined sources
Helixi70 – 756Combined sources
Helixi76 – 783Combined sources
Beta strandi80 – 845Combined sources
Turni86 – 883Combined sources
Turni91 – 933Combined sources
Beta strandi96 – 1005Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2I96NMR-A1-108[»]
ProteinModelPortaliP00167.
SMRiP00167. Positions 1-108.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00167.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 8577Cytochrome b5 heme-bindingPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the cytochrome b5 family.Curated
Contains 1 cytochrome b5 heme-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5274.
GeneTreeiENSGT00510000046507.
HOGENOMiHOG000039853.
HOVERGENiHBG002653.
InParanoidiP00167.
OMAiMAEQSDK.
PhylomeDBiP00167.
TreeFamiTF314537.

Family and domain databases

Gene3Di3.10.120.10. 1 hit.
InterProiIPR001199. Cyt_B5-like_heme/steroid-bd.
IPR018506. Cyt_B5_heme-BS.
[Graphical view]
PfamiPF00173. Cyt-b5. 1 hit.
[Graphical view]
PRINTSiPR00363. CYTOCHROMEB5.
SUPFAMiSSF55856. SSF55856. 1 hit.
PROSITEiPS00191. CYTOCHROME_B5_1. 1 hit.
PS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P00167-1) [UniParc]FASTAAdd to Basket

Also known as: Liver, Membrane-bound

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEQSDEAVK YYTLEEIQKH NHSKSTWLIL HHKVYDLTKF LEEHPGGEEV
60 70 80 90 100
LREQAGGDAT ENFEDVGHST DAREMSKTFI IGELHPDDRP KLNKPPETLI
110 120 130
TTIDSSSSWW TNWVIPAISA VAVALMYRLY MAED
Length:134
Mass (Da):15,330
Last modified:January 23, 2007 - v2
Checksum:iB6AD2AB747555048
GO
Isoform 2 (identifier: P00167-2) [UniParc]FASTAAdd to Basket

Also known as: Erythrocyte, Cytoplasmic

The sequence of this isoform differs from the canonical sequence as follows:
     98-98: T → P
     99-134: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Show »
Length:98
Mass (Da):11,268
Checksum:i62D9B54C7BCDF9F3
GO
Isoform 3 (identifier: P00167-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-95: Missing.

Note: No experimental confirmation available.

Show »
Length:124
Mass (Da):14,169
Checksum:iAC952456B4827706
GO

Sequence cautioni

The sequence AAA63169.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti2 – 43Missing AA sequence (PubMed:4993957)Curated
Sequence conflicti4 – 41Q → E AA sequence (PubMed:2752049)Curated
Sequence conflicti15 – 184EEIQ → QEIE AA sequence (PubMed:4993957)Curated
Sequence conflicti15 – 184EEIQ → QEIE AA sequence (PubMed:5062820)Curated
Sequence conflicti15 – 184EEIQ → QEIE AA sequence (PubMed:4770377)Curated
Sequence conflicti22 – 221Missing AA sequence (PubMed:4770377)Curated
Sequence conflicti52 – 521R → W in CA771478. 1 PublicationCurated
Sequence conflicti62 – 621N → D AA sequence (PubMed:4993957)Curated
Sequence conflicti62 – 621N → D AA sequence (PubMed:5062820)Curated
Sequence conflicti62 – 621N → D AA sequence (PubMed:4770377)Curated
Sequence conflicti89 – 913RPK → KPR AA sequence (PubMed:4030743)Curated
Sequence conflicti89 – 913RPK → KPR AA sequence (PubMed:4993957)Curated
Sequence conflicti89 – 913RPK → KPR AA sequence (PubMed:5062820)Curated
Sequence conflicti89 – 913RPK → KPR AA sequence (PubMed:4770377)Curated
Sequence conflicti122 – 1221A → V AA sequence (PubMed:2752049)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei86 – 9510Missing in isoform 3. 1 PublicationVSP_045367
Alternative sequencei98 – 981T → P in isoform 2. 1 PublicationVSP_001240
Alternative sequencei99 – 13436Missing in isoform 2. 1 PublicationVSP_001241Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M22865 mRNA. Translation: AAA35729.1.
M60174 mRNA. Translation: AAA52165.1.
L39945
, L39792, L39941, L39942, L39943, L39944 Genomic DNA. Translation: AAA63169.1. Sequence problems.
CA771478 mRNA. No translation available.
CR456990 mRNA. Translation: CAG33271.1.
AC090398 Genomic DNA. No translation available.
CH471117 Genomic DNA. Translation: EAW66544.1.
BC015182 mRNA. Translation: AAH15182.1.
CCDSiCCDS12004.1. [P00167-1]
CCDS12005.1. [P00167-2]
CCDS54188.1. [P00167-3]
PIRiA28936. CBHU5.
JN0075. CBHU5E.
RefSeqiNP_001177736.1. NM_001190807.2. [P00167-3]
NP_001905.1. NM_001914.3. [P00167-2]
NP_683725.1. NM_148923.3. [P00167-1]
UniGeneiHs.465413.

Genome annotation databases

EnsembliENST00000340533; ENSP00000341625; ENSG00000166347. [P00167-1]
ENST00000397914; ENSP00000381011; ENSG00000166347. [P00167-3]
ENST00000494131; ENSP00000436461; ENSG00000166347. [P00167-2]
GeneIDi1528.
KEGGihsa:1528.
UCSCiuc002llh.3. human. [P00167-2]
uc002lli.3. human. [P00167-1]

Polymorphism databases

DMDMi117809.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M22865 mRNA. Translation: AAA35729.1 .
M60174 mRNA. Translation: AAA52165.1 .
L39945
, L39792 , L39941 , L39942 , L39943 , L39944 Genomic DNA. Translation: AAA63169.1 . Sequence problems.
CA771478 mRNA. No translation available.
CR456990 mRNA. Translation: CAG33271.1 .
AC090398 Genomic DNA. No translation available.
CH471117 Genomic DNA. Translation: EAW66544.1 .
BC015182 mRNA. Translation: AAH15182.1 .
CCDSi CCDS12004.1. [P00167-1 ]
CCDS12005.1. [P00167-2 ]
CCDS54188.1. [P00167-3 ]
PIRi A28936. CBHU5.
JN0075. CBHU5E.
RefSeqi NP_001177736.1. NM_001190807.2. [P00167-3 ]
NP_001905.1. NM_001914.3. [P00167-2 ]
NP_683725.1. NM_148923.3. [P00167-1 ]
UniGenei Hs.465413.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2I96 NMR - A 1-108 [» ]
ProteinModelPortali P00167.
SMRi P00167. Positions 1-108.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 107908. 18 interactions.
IntActi P00167. 4 interactions.
MINTi MINT-3003425.
STRINGi 9606.ENSP00000341625.

Chemistry

ChEMBLi CHEMBL6170.

PTM databases

PhosphoSitei P00167.

Polymorphism databases

DMDMi 117809.

Proteomic databases

MaxQBi P00167.
PaxDbi P00167.
PRIDEi P00167.

Protocols and materials databases

DNASUi 1528.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000340533 ; ENSP00000341625 ; ENSG00000166347 . [P00167-1 ]
ENST00000397914 ; ENSP00000381011 ; ENSG00000166347 . [P00167-3 ]
ENST00000494131 ; ENSP00000436461 ; ENSG00000166347 . [P00167-2 ]
GeneIDi 1528.
KEGGi hsa:1528.
UCSCi uc002llh.3. human. [P00167-2 ]
uc002lli.3. human. [P00167-1 ]

Organism-specific databases

CTDi 1528.
GeneCardsi GC18M071920.
HGNCi HGNC:2570. CYB5A.
HPAi CAB006333.
MIMi 250790. phenotype.
613218. gene.
neXtProti NX_P00167.
Orphaneti 90796. 46,XY disorder of sex development due to isolated 17,20 lyase deficiency.
PharmGKBi PA27068.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5274.
GeneTreei ENSGT00510000046507.
HOGENOMi HOG000039853.
HOVERGENi HBG002653.
InParanoidi P00167.
OMAi MAEQSDK.
PhylomeDBi P00167.
TreeFami TF314537.

Enzyme and pathway databases

BioCyci MetaCyc:ENSG00000166347-MONOMER.
Reactomei REACT_11202. Vitamin C (ascorbate) metabolism.

Miscellaneous databases

ChiTaRSi CYB5A. human.
EvolutionaryTracei P00167.
GeneWikii Cytochrome_b5,_type_A.
GenomeRNAii 1528.
NextBioi 6325.
PROi P00167.
SOURCEi Search...

Gene expression databases

Bgeei P00167.
CleanExi HS_CYB5A.
ExpressionAtlasi P00167. baseline and differential.
Genevestigatori P00167.

Family and domain databases

Gene3Di 3.10.120.10. 1 hit.
InterProi IPR001199. Cyt_B5-like_heme/steroid-bd.
IPR018506. Cyt_B5_heme-BS.
[Graphical view ]
Pfami PF00173. Cyt-b5. 1 hit.
[Graphical view ]
PRINTSi PR00363. CYTOCHROMEB5.
SUPFAMi SSF55856. SSF55856. 1 hit.
PROSITEi PS00191. CYTOCHROME_B5_1. 1 hit.
PS50255. CYTOCHROME_B5_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The complete nucleotide sequence of human liver cytochrome b5 mRNA."
    Yoo M., Steggles A.W.
    Biochem. Biophys. Res. Commun. 156:576-580(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Liver.
  2. "The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene."
    Giordano S.J., Steggles A.W.
    Biochem. Biophys. Res. Commun. 178:38-44(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Erythrocyte.
  3. "The isolation and characterization of the human cytochrome b5 gene."
    Li X.R., Giordano S.J., Yoo M., Steggles A.W.
    Biochem. Biophys. Res. Commun. 209:894-900(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Pancreas.
  5. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] (ISOFORM 1).
    Tissue: Uterus.
  9. "Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5."
    Abe K., Kimura S., Kizawa R., Anan F.K., Sugita Y.
    J. Biochem. 97:1659-1668(1985) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-98.
    Tissue: Erythrocyte.
  10. "Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver."
    Nobrega F.G., Ozols J.
    J. Biol. Chem. 246:1706-1717(1971) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-91.
  11. "Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence."
    Ozols J.
    J. Biol. Chem. 247:2242-2245(1972) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-91.
  12. "Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5."
    Rashid M.A., Hagihara B., Kobayashi M., Tani S., Tsugita A.
    J. Biochem. 74:985-1002(1973) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-91.
  13. "Structure of cytochrome b5 and its topology in the microsomal membrane."
    Ozols J.
    Biochim. Biophys. Acta 997:121-130(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 2-36 AND 84-134, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2.
  14. "A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism."
    Giordano S.J., Kaftory A., Steggles A.W.
    Hum. Genet. 93:568-570(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN METHB-CYB5A.
  15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiCYB5_HUMAN
AccessioniPrimary (citable) accession number: P00167
Secondary accession number(s): A8MV91, F8WEU4, Q6IB14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: November 26, 2014
This is version 167 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3