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

Gene ID: 1528, updated on 5-Aug-2018

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; Vega:OTTHUMG00000132843
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

Genomic context

See CYB5A in Genome Data Viewer
Location:
18q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (74253292..74292016, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (71920527..71959251, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene translocase of inner mitochondrial membrane 21 Neighboring gene RNA, 7SL, cytoplasmic 551, pseudogene Neighboring gene chromosome 18 open reading frame 63 Neighboring gene FAU, ubiquitin like and ribosomal protein S30 fusion 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
    Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • Vitamin C (ascorbate) metabolism, organism-specific biosystem (from REACTOME)
    Vitamin C (ascorbate) metabolism, organism-specific biosystemVitamin C (ascorbate) is an antioxidant and a cofactor in reactions catalyzed by Cu+-dependent monooxygenases and Fe++-dependent dioxygenases. Many mammals can synthesize ascorbate de novo; humans an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aldo-keto reductase (NADP) activity TAS
Traceable Author Statement
more info
 
cytochrome-c oxidase activity TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
heme binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-ascorbic acid metabolic process TAS
Traceable Author Statement
more info
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cytochrome b5
Names
cytochrome b5 type A (microsomal)
type 1 cyt-b5

NCBI Reference Sequences (RefSeq)

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_023211.1 RefSeqGene

    Range
    4971..43695
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190807.2NP_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, OTTHUMP00000260454, ENST00000397914.4, OTTHUMT00000444243
    Conserved Domains (1) summary
    pfam00173
    Location:1385
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
  2. NM_001914.3NP_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, OTTHUMP00000163745, ENST00000494131.6, OTTHUMT00000256317
    Conserved Domains (1) summary
    pfam00173
    Location:1385
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
  3. NM_148923.3NP_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)
    BC015182, BG196223, CB112646
    Consensus CDS
    CCDS12004.1
    UniProtKB/Swiss-Prot
    P00167
    Related
    ENSP00000341625.4, OTTHUMP00000163744, ENST00000340533.8, OTTHUMT00000256316
    Conserved Domains (1) summary
    pfam00173
    Location:1385
    Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    74253292..74292016 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525835.2XP_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
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