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CYP26B1 cytochrome P450 family 26 subfamily B member 1 [ Homo sapiens (human) ]

Gene ID: 56603, updated on 12-Aug-2018

Summary

Official Symbol
CYP26B1provided by HGNC
Official Full Name
cytochrome P450 family 26 subfamily B member 1provided by HGNC
Primary source
HGNC:HGNC:20581
See related
Ensembl:ENSG00000003137 MIM:605207; Vega:OTTHUMG00000129756
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
RHFCA; CYP26A2; P450RAI2; P450RAI-2
Summary
This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
Expression
Broad expression in testis (RPKM 9.5), skin (RPKM 9.2) and 21 other tissues See more
Orthologs

Genomic context

See CYP26B1 in Genome Data Viewer
Location:
2p13.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (72129238..72147862, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (72356367..72374991, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374798 Neighboring gene ribosomal protein S20 pseudogene 10 Neighboring gene exocyst complex component 6B Neighboring gene ribosomal protein S15a pseudogene 13 Neighboring gene RNA, U2 small nuclear 39, pseudogene

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?

Phenotypes

Associated conditions

Description Tests
Radiohumeral fusions with other skeletal and craniofacial anomalies
MedGen: C3280729 OMIM: 614416 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129613, DKFZp686G0638

Gene Ontology Provided by GOA

Process Evidence Code Pubs
bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell fate determination ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
cornification IEA
Inferred from Electronic Annotation
more info
 
embryonic limb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of T cell polarity IEA
Inferred from Electronic Annotation
more info
 
establishment of skin barrier IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
male meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of retinoic acid receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidation-reduction process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tongue muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
proximal/distal pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
response to vitamin A IEA
Inferred from Electronic Annotation
more info
 
retinoic acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
retinoic acid receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tongue morphogenesis IEA
Inferred from Electronic Annotation
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
organelle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome P450 26B1
Names
cytochrome P450 family 26 subfamily A member 1
cytochrome P450 retinoic acid-inactivating 2
cytochrome P450 retinoid metabolizing protein
cytochrome P450, family 26, subfamily B, polypeptide 1
cytochrome P450, subfamily XXVIB, polypeptide 1
retinoic acid-metabolizing cytochrome
NP_001264671.1
NP_063938.1
XP_005264490.1
XP_011531290.1

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_007957.1 RefSeqGene

    Range
    4973..23597
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001277742.1NP_001264671.1  cytochrome P450 26B1 isoform 2

    See identical proteins and their annotated locations for NP_001264671.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AA484668, AF252297, AK294814, DC308258
    Consensus CDS
    CCDS62934.1
    UniProtKB/Swiss-Prot
    Q9NR63
    Related
    ENSP00000443304.1, ENST00000546307.5
    Conserved Domains (1) summary
    COG2124
    Location:68415
    CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]
  2. NM_019885.3NP_063938.1  cytochrome P450 26B1 isoform 1

    See identical proteins and their annotated locations for NP_063938.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA484668, AF252297, BC109205, DC308258
    Consensus CDS
    CCDS1919.1
    UniProtKB/Swiss-Prot
    Q9NR63
    Related
    ENSP00000001146.2, OTTHUMP00000160175, ENST00000001146.6, OTTHUMT00000251969
    Conserved Domains (1) summary
    cl12078
    Location:23490
    p450; Cytochrome P450

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_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    72129238..72147862 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264433.4XP_005264490.1  cytochrome P450 26B1 isoform X1

    Conserved Domains (1) summary
    cl12078
    Location:14432
    p450; Cytochrome P450
  2. XM_011532988.1XP_011531290.1  cytochrome P450 26B1 isoform X2

    UniProtKB/TrEMBL
    E7ER08
    Related
    ENSP00000401465.1, OTTHUMP00000202257, ENST00000412253.1, OTTHUMT00000327529
    Conserved Domains (1) summary
    COG2124
    Location:1299
    CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]
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