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P00167

- CYB5_HUMAN

UniProt

P00167 - CYB5_HUMAN

Protein

Cytochrome b5

Gene

CYB5A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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. response to cadmium ion Source: Ensembl
    4. small molecule metabolic process Source: Reactome
    5. vitamin metabolic process Source: Reactome
    6. water-soluble vitamin metabolic process Source: Reactome

    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

    GO - Cellular componenti

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

    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

    ArrayExpressiP00167.
    BgeeiP00167.
    CleanExiHS_CYB5A.
    GenevestigatoriP00167.

    Organism-specific databases

    HPAiCAB006333.

    Interactioni

    Protein-protein interaction databases

    BioGridi107908. 14 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 – 53
    Helixi14 – 174
    Helixi18 – 203
    Beta strandi25 – 3612
    Turni38 – 436
    Helixi49 – 524
    Beta strandi55 – 584
    Helixi61 – 655
    Helixi70 – 756
    Helixi76 – 783
    Beta strandi80 – 845
    Turni86 – 883
    Turni91 – 933
    Beta strandi96 – 1005

    3D structure databases

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

    Miscellaneous databases

    EvolutionaryTraceiP00167.

    Transmembrane

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

    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.
    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

    MAEQSDEAVK YYTLEEIQKH NHSKSTWLIL HHKVYDLTKF LEEHPGGEEV    50
    LREQAGGDAT ENFEDVGHST DAREMSKTFI IGELHPDDRP KLNKPPETLI 100
    TTIDSSSSWW TNWVIPAISA VAVALMYRLY MAED 134
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    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. 14 interactions.
    IntActi P00167. 4 interactions.
    MINTi MINT-3003425.
    STRINGi 9606.ENSP00000341625.

    Chemistry

    ChEMBLi CHEMBL6170.
    DrugBanki DB01028. Methoxyflurane.

    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.
    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

    ArrayExpressi P00167.
    Bgeei P00167.
    CleanExi HS_CYB5A.
    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

    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: October 1, 2014
    This is version 165 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