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CYP26A1 cytochrome P450 family 26 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 1592, updated on 12-May-2019

Summary

Official Symbol
CYP26A1provided by HGNC
Official Full Name
cytochrome P450 family 26 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:2603
See related
Ensembl:ENSG00000095596 MIM:602239
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
CP26; CYP26; P450RAI; P450RAI1
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward liver (RPKM 15.5) See more
Orthologs

Genomic context

See CYP26A1 in Genome Data Viewer
Location:
10q23.33
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (93073475..93077884)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (94833232..94837641)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6 Neighboring gene cytochrome P450 family 26 subfamily C member 1 Neighboring gene NIP7 pseudogene 1 Neighboring gene X-ray repair cross complementing 6 pseudogene 1

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?

Phenotypes

NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
kidney development IEA
Inferred from Electronic Annotation
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 
response to retinoic acid 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 metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
sterol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cytochrome P450 26A1
Names
P450, retinoic acid-inactivating, 1
cytochrome P450 retinoic acid-inactivating 1
cytochrome P450, family 26, subfamily A, polypeptide 1
cytochrome P450, subfamily XXVIA, polypeptide 1
cytochrome P450RAI
hP450RAI
retinoic acid 4-hydroxylase
retinoic acid-metabolizing cytochrome
NP_000774.2
NP_476498.1

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_008067.1 RefSeqGene

    Range
    5416..9410
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000783.4NP_000774.2  cytochrome P450 26A1 isoform 1

    See identical proteins and their annotated locations for NP_000774.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (1).
    Source sequence(s)
    AL358613
    Consensus CDS
    CCDS7426.1
    UniProtKB/Swiss-Prot
    O43174
    Related
    ENSP00000224356.4, ENST00000224356.5
    Conserved Domains (1) summary
    cl12078
    Location:14492
    p450; Cytochrome P450
  2. NM_057157.2NP_476498.1  cytochrome P450 26A1 isoform 2

    See identical proteins and their annotated locations for NP_476498.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' end region, which doesn't contain an in-frame translation start codon, when compared to variant 1. Translation thus begins at a downstream start codon, and results in a N-terminal truncated protein, as compared to isoform 1.
    Source sequence(s)
    AL358613
    Consensus CDS
    CCDS7427.1
    UniProtKB/Swiss-Prot
    O43174
    Related
    ENSP00000360586.1, ENST00000371531.5
    Conserved Domains (1) summary
    cl12078
    Location:4422
    p450; Cytochrome P450

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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    93073475..93077884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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