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CYB5R3 cytochrome b5 reductase 3 [ Homo sapiens (human) ]

Gene ID: 1727, updated on 9-Dec-2018

Summary

Official Symbol
CYB5R3provided by HGNC
Official Full Name
cytochrome b5 reductase 3provided by HGNC
Primary source
HGNC:HGNC:2873
See related
Ensembl:ENSG00000100243 MIM:613213
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
B5R; DIA1
Summary
This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
Expression
Ubiquitous expression in fat (RPKM 110.9), testis (RPKM 52.5) and 24 other tissues See more
Orthologs

Genomic context

See CYB5R3 in Genome Data Viewer
Location:
22q13.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (42617840..42649399, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43013846..43045405, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DNA polymerase delta interacting protein 3 Neighboring gene RNA, U12 small nuclear Neighboring gene ATP synthase membrane subunit g like Neighboring gene alpha 1,4-galactosyltransferase (P blood group) Neighboring gene ribosomal protein L5 pseudogene 34

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Amino sugar and nucleotide sugar metabolism, organism-specific biosystem (from KEGG)
    Amino sugar and nucleotide sugar metabolism, organism-specific biosystem
    Amino sugar and nucleotide sugar metabolism
  • Amino sugar and nucleotide sugar metabolism, conserved biosystem (from KEGG)
    Amino sugar and nucleotide sugar metabolism, conserved biosystem
    Amino sugar and nucleotide sugar metabolism
  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • 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 ...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • 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.
  • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
    Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
  • 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
ADP binding IEA
Inferred from Electronic Annotation
more info
 
AMP binding IEA
Inferred from Electronic Annotation
more info
 
FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD binding IEA
Inferred from Electronic Annotation
more info
 
cytochrome-b5 reductase activity, acting on NAD(P)H TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
L-ascorbic acid metabolic process TAS
Traceable Author Statement
more info
 
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
hemoglobin complex TAS
Traceable Author Statement
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 

General protein information

Preferred Names
NADH-cytochrome b5 reductase 3
Names
NADH-cytochrome b5 reductase 3 membrane-bound form
NADH-cytochrome b5 reductase 3 soluble form
diaphorase-1
mutant NADH-cytochrome b5 reductase
NP_000389.1
NP_001123291.1
NP_001165131.1
NP_001165132.1
NP_015565.1

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_012194.1 RefSeqGene

    Range
    5001..36560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000398.7NP_000389.1  NADH-cytochrome b5 reductase 3 isoform 1

    See identical proteins and their annotated locations for NP_000389.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the membrane-bound form (isoform 1) of the enzyme. This isoform (1) is referred to in the literature as isoform m.
    Source sequence(s)
    BC004821, BX334220, Z93241
    Consensus CDS
    CCDS33658.1
    UniProtKB/Swiss-Prot
    P00387
    Related
    ENSP00000338461.6, ENST00000352397.9
    Conserved Domains (2) summary
    cd06183
    Location:45301
    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 ...
    PTZ00319
    Location:11301
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  2. NM_001129819.2NP_001123291.1  NADH-cytochrome b5 reductase 3 isoform 2

    See identical proteins and their annotated locations for NP_001123291.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is the soluble form of the enzyme, which has a shorter N-terminus when it is compared to the membrane-bound form. This isoform (2) is referred to in the literature as isoform s.
    Source sequence(s)
    AJ310900, DA268749, DA548643, Z93241
    Consensus CDS
    CCDS14040.1
    UniProtKB/Swiss-Prot
    P00387
    Related
    ENSP00000384834.3, ENST00000407623.7
    Conserved Domains (2) summary
    cd06183
    Location:22278
    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 ...
    PTZ00319
    Location:3278
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  3. NM_001171660.1NP_001165131.1  NADH-cytochrome b5 reductase 3 isoform 3

    See identical proteins and their annotated locations for NP_001165131.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK302204, Z93241
    Consensus CDS
    CCDS54535.1
    UniProtKB/Swiss-Prot
    P00387
    Related
    ENSP00000354468.4, ENST00000361740.8
    Conserved Domains (2) summary
    cd06183
    Location:78334
    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 ...
    PTZ00319
    Location:44334
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  4. NM_001171661.1NP_001165132.1  NADH-cytochrome b5 reductase 3 isoform 2

    See identical proteins and their annotated locations for NP_001165132.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate exon in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) is the soluble form of the enzyme, which has a shorter N-terminus when it is compared to the membrane-bound form. This isoform (2) is referred to in the literature as isoform s.
    Source sequence(s)
    BM564146, Z93241
    Consensus CDS
    CCDS14040.1
    UniProtKB/Swiss-Prot
    P00387
    Related
    ENSP00000385679.1, ENST00000402438.5
    Conserved Domains (2) summary
    cd06183
    Location:22278
    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 ...
    PTZ00319
    Location:3278
    PTZ00319; NADH-cytochrome B5 reductase; Provisional
  5. NM_007326.4NP_015565.1  NADH-cytochrome b5 reductase 3 isoform 2

    See identical proteins and their annotated locations for NP_015565.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2) is the soluble form of the enzyme, which has a shorter N-terminus when it is compared to the membrane-bound form. This isoform (2) is referred to in the literature as isoform s.
    Source sequence(s)
    AJ310900, DB029897, Z93241
    Consensus CDS
    CCDS14040.1
    UniProtKB/Swiss-Prot
    P00387
    Related
    ENSP00000384457.1, ENST00000407332.5
    Conserved Domains (2) summary
    cd06183
    Location:22278
    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 ...
    PTZ00319
    Location:3278
    PTZ00319; NADH-cytochrome B5 reductase; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    42617840..42649399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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