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    CYB5A cytochrome b5 type A [ Homo sapiens (human) ]

    Gene ID: 1528, updated on 17-Jun-2024

    Summary

    Official Symbol
    CYB5Aprovided by HGNC
    Official Full Name
    cytochrome b5 type Aprovided by HGNC
    Primary source
    HGNC:HGNC:2570
    See related
    Ensembl:ENSG00000166347 MIM:613218; AllianceGenome:HGNC:2570
    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
    CYB5; MCB5; METAG
    Summary
    The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
    Expression
    Broad expression in liver (RPKM 226.1), kidney (RPKM 141.0) and 16 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYB5A in Genome Data Viewer
    Location:
    18q22.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74250846..74291963, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74478400..74519513, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (71918081..71959198, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13493 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71817752-71818951 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:71822138-71823337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13494 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50247 Neighboring gene translocase of inner mitochondrial membrane 21 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71864836-71865492 Neighboring gene RNA, 7SL, cytoplasmic 551, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71904867-71905366 Neighboring gene Sharpr-MPRA regulatory region 12176 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:71917515-71918450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71935092-71935632 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50263 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50279 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:71948314-71948841 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:71957777-71958384 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50301 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13495 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50307 Neighboring gene MPRA-validated peak3184 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50330 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50334 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50341 Neighboring gene chromosome 18 open reading frame 63 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_50347 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_50353 and experimental_50354 Neighboring gene NANOG hESC enhancer GRCh37_chr18:72050693-72051551 Neighboring gene FAU pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytochrome-c oxidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial outer membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial outer membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    cytochrome b5
    Names
    cytochrome b5 type A (microsomal)
    epididymis secretory sperm binding protein
    type 1 cyt-b5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_023211.2 RefSeqGene

      Range
      5000..46117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001190807.3NP_001177736.1  cytochrome b5 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CA771478, CB112646
      Consensus CDS
      CCDS54188.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000381011.4, ENST00000397914.4
      Conserved Domains (1) summary
      pfam00173
      Location:1385
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    2. NM_001914.4NP_001905.1  cytochrome b5 isoform 2

      See identical proteins and their annotated locations for NP_001905.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an additional exon in the 3' coding region, which introduces a stop codon, as compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC090398, BG196223, CB112646, M60174
      Consensus CDS
      CCDS12005.1
      UniProtKB/Swiss-Prot
      P00167
      Related
      ENSP00000436461.2, ENST00000494131.6
      Conserved Domains (1) summary
      pfam00173
      Location:1385
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    3. NM_148923.4NP_683725.1  cytochrome b5 isoform 1

      See identical proteins and their annotated locations for NP_683725.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC090398, BC015182, BG196223, CB112646
      Consensus CDS
      CCDS12004.1
      UniProtKB/Swiss-Prot
      A8MV91, F8WEU4, P00167, Q6IB14
      UniProtKB/TrEMBL
      A0A384ME44
      Related
      ENSP00000341625.4, ENST00000340533.9
      Conserved Domains (1) summary
      pfam00173
      Location:1385
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74250846..74291963 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525835.3XP_011524137.1  cytochrome b5 isoform X1

      See identical proteins and their annotated locations for XP_011524137.1

      UniProtKB/Swiss-Prot
      P00167
      Conserved Domains (1) summary
      pfam00173
      Location:1385
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74478400..74519513 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318223.1XP_054174198.1  cytochrome b5 isoform X1