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    CYB5R1 cytochrome b5 reductase 1 [ Homo sapiens (human) ]

    Gene ID: 51706, updated on 27-Nov-2024

    Summary

    Official Symbol
    CYB5R1provided by HGNC
    Official Full Name
    cytochrome b5 reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:13397
    See related
    Ensembl:ENSG00000159348 MIM:608341; AllianceGenome:HGNC:13397
    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
    B5R1; B5R2; B5R.1; NQO3A2; humb5R2
    Summary
    Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 57.6), heart (RPKM 53.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CYB5R1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202961873..202967257, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202224599..202229982, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (202931001..202936385, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 12 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 59 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2338 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202897631-202898132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:202898133-202898632 Neighboring gene Sharpr-MPRA regulatory region 11793 Neighboring gene adiponectin receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1713 Neighboring gene Sharpr-MPRA regulatory region 11869 Neighboring gene MGAT4 family member F, pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr1.10803 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202975854-202976628 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:202976629-202977401 Neighboring gene ribosomal protein S20 pseudogene 8 Neighboring gene transmembrane protein 183A

    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 protein information

    Preferred Names
    NADH-cytochrome b5 reductase 1
    Names
    NAD(P)H:quinone oxidoreductase type 3, polypeptide A2
    NP_057327.2

    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.

    mRNA and Protein(s)

    1. NM_016243.3NP_057327.2  NADH-cytochrome b5 reductase 1

      See identical proteins and their annotated locations for NP_057327.2

      Status: VALIDATED

      Source sequence(s)
      AY359026, BC018732
      Consensus CDS
      CCDS1431.1
      UniProtKB/Swiss-Prot
      A0PK21, B2R8E0, O95329, Q53F73, Q8NCL5, Q9UHJ1, Q9UHQ9
      Related
      ENSP00000356218.4, ENST00000367249.9
      Conserved Domains (1) summary
      PLN02252
      Location:38300
      PLN02252; nitrate reductase [NADPH]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      202961873..202967257 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      202224599..202229982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)