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    CYB5R4 cytochrome b5 reductase 4 [ Homo sapiens (human) ]

    Gene ID: 51167, updated on 11-Apr-2024

    Summary

    Official Symbol
    CYB5R4provided by HGNC
    Official Full Name
    cytochrome b5 reductase 4provided by HGNC
    Primary source
    HGNC:HGNC:20147
    See related
    Ensembl:ENSG00000065615 MIM:608343; AllianceGenome:HGNC:20147
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NCB5OR; cb5/cb5R; dJ676J13.1
    Summary
    NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
    Expression
    Broad expression in testis (RPKM 17.2), appendix (RPKM 16.0) and 24 other tissues See more
    Orthologs
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    Genomic context

    See CYB5R4 in Genome Data Viewer
    Location:
    6q14.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83859689..83967423)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (85082972..85190710)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84569408..84677142)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377879 Neighboring gene MPRA-validated peak5930 silencer Neighboring gene RIPPLY2-CYB5R4 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17361 Neighboring gene Sharpr-MPRA regulatory region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17362 Neighboring gene ripply transcriptional repressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:84615227-84615728 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3721 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:84686166-84687365 Neighboring gene MPRA-validated peak5932 silencer Neighboring gene long intergenic non-protein coding RNA 2857 Neighboring gene VISTA enhancer hs2063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84782671-84783171 Neighboring gene melanocortin 2 receptor accessory protein 2 Neighboring gene MPRA-validated peak5934 silencer Neighboring gene centrosomal protein 162

    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

    Readthrough RIPPLY2-CYB5R4

    Readthrough gene: RIPPLY2-CYB5R4, Included gene: RIPPLY2

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bicarbonate transport TAS
    Traceable Author Statement
    more info
     
    involved_in cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in detection of oxygen NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in insulin secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to antibiotic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in superoxide metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in superoxide metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cytochrome b5 reductase 4
    Names
    N-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing protein
    NADPH cytochrome B5 oxidoreductase
    cytochrome b-type NAD(P)H oxidoreductase
    flavohemoprotein b5+b5R
    flavohemoprotein b5/b5R
    NP_057314.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_016230.4NP_057314.2  cytochrome b5 reductase 4

      See identical proteins and their annotated locations for NP_057314.2

      Status: VALIDATED

      Source sequence(s)
      AL034347, BC025380, BC029339, DA274558
      Consensus CDS
      CCDS5000.2
      UniProtKB/Swiss-Prot
      B1AEM2, Q5TGI9, Q7L1T6, Q9NUE4, Q9UHI9
      Related
      ENSP00000358695.3, ENST00000369681.10
      Conserved Domains (3) summary
      cd06183
      Location:278519
      cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...
      cd06490
      Location:170256
      p23_NCB5OR; p23_like domain found in NAD(P)H cytochrome b5 (NCB5) oxidoreductase (OR) and similar proteins. NCB5OR is widely expressed in human organs and tissues and is localized in the ER (endoplasmic reticulum). It appears to play a critical role in maintaining ...
      pfam00173
      Location:58130
      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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      83859689..83967423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      85082972..85190710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)