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

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; AllianceGenome:HGNC:2603
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: mouse all
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Genomic context

Location:: 10q23.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (93073475..93077885)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (93953370..93957780)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (94833232..94837642)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CYP26A1 Is a Novel Cancer Biomarker of Pancreatic Carcinoma: Evidence from Integration Analysis and In Vitro Experiments.
Title: CYP26A1 Is a Novel Cancer Biomarker of Pancreatic Carcinoma: Evidence from Integration Analysis and In Vitro Experiments.
A novel Cytochrome P450 26A1 expressing NK cell subset at the mouse maternal-foetal interface.
Title: A novel Cytochrome P450 26A1 expressing NK cell subset at the mouse maternal-foetal interface.
Identification of a novel CYP26A1 mutation in a Chinese family with congenital microtia.
Title: Identification of a novel CYP26A1 mutation in a Chinese family with congenital microtia.
Cytochrome P450 26A1 modulates uterine dendritic cells in mice early pregnancy.
Title: Cytochrome P450 26A1 modulates uterine dendritic cells in mice early pregnancy.
This review highlights the current knowledge of structure-function of CYP26 enzymes and focuses on their role in human retinoid metabolism in different tissues.
Title: Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.
The combined effects of the novel CYP26 single nucleotide polymorphisms -environment approach may predict the risk of occurrence of oral malignant disorders.
Title: Application of simulation-based CYP26 SNP-environment barcodes for evaluating the occurrence of oral malignant disorders by odds ratio-based binary particle swarm optimization: A case-control study in the Taiwanese population.
We applied whole-genome sequencing (WGS) on 9 trios where the probands are sporadically affected with the most severe form of the disorder and harbor no coding sequence variants affecting the function of known Hirschsprung disease (HSCR) genes. We found de novo protein-altering variants in three intolerant to change genes-CCT2, VASH1, and CYP26A1-for which a plausible link with the enteric nervous system (ENS) exists
Title: Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing.
Accumulating evidence suggest that cytochrome P450 (CYP26), the primary retinoid-inactivating enzyme, plays a critical role in the integration of two neoplastic molecular programs: the retinoid metabolism and Hedgehog pathways. (Review)
Title: Retinoic acid, CYP26, and drug resistance in the stem cell niche.
CYP26A1 polymorphisms were associated with increased risk of malignant oral disorders in betel quid chewers.
Title: Association study between novel CYP26 polymorphisms and the risk of betel quid-related malignant oral disorders.
CYP26A1-mediated oncogenic characteristics may be partially responsible for the elevated expression of fascin.
Title: The retinoic acid-metabolizing enzyme CYP26A1 upregulates fascin and promotes the malignant behavior of breast carcinoma cells.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CYP26A1_2009 (e-PCR)
- UniSTS:280637

NoName (e-PCR)
- UniSTS:481151

RH44983 (e-PCR)
- UniSTS:26757

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans retinoic acid 18-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables all-trans retinoic acid 4-hydrolase activity	IEA Inferred from Electronic Annotation more info
enables heme binding	NAS Non-traceable Author Statement more info	PubMed
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables monooxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IDA Inferred from Direct Assay more info	PubMed
enables oxygen binding	TAS Traceable Author Statement more info	PubMed
enables retinoic acid 4-hydroxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables retinoic acid 4-hydroxylase activity	TAS Traceable Author Statement more info
enables retinoic acid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of retinoic acid receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
involved_in retinoic acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in retinoic acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in sterol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitamin metabolic process	TAS Traceable Author Statement more info
involved_in xenobiotic metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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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

EC 1.14.-.-

NP_476498.1

EC 1.14.-.-

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.

Genomic

NG_008067.1 RefSeqGene

Range

5419..9411

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000783.4 → NP_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

B3KNI4, O43174, Q5VXH9, Q5VXI0

Related

ENSP00000224356.4, ENST00000224356.5

Conserved Domains (1) summary

cl12078
Location:14 → 492

p450; Cytochrome P450
NM_057157.2 → NP_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:4 → 422

p450; Cytochrome P450