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

Gene ID: 51706, updated on 13-May-2022

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 extracellular exosome; membrane; and mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 57.6), heart (RPKM 53.8) and 25 other tissues See more
Orthologs
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Genomic context

See CYB5R1 in Genome Data Viewer
Location:
1q32.1
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (202961873..202967257, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (202224599..202229982, complement)
105.20220307 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 Sharpr-MPRA regulatory region 11793 Neighboring gene adiponectin receptor 1 Neighboring gene Sharpr-MPRA regulatory region 11869 Neighboring gene MGAT4 family member F, pseudogene Neighboring gene ribosomal protein S20 pseudogene 8

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cytochrome-b5 reductase activity, acting on NAD(P)H TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in bicarbonate transport TAS
Traceable Author Statement
more info
 
involved_in sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 

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)

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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_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
    Q9UHQ9
    Related
    ENSP00000356218.4, ENST00000367249.9
    Conserved Domains (1) summary
    PLN02252
    Location:38300
    PLN02252; nitrate reductase [NADPH]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)