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

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; AllianceGenome:HGNC:20581
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: mouse all
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Genomic context

Location:: 2p13.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (72129238..72147862, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (72142327..72160951, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (72356367..72374991, complement)

Chromosome 2 - NC_000002.12 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?

CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
Title: CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.
A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism.
Title: A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism.
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
Title: Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.
Title: A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.
Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.
Title: Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.
CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.
Title: CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.
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.
Individuals with the rs138478634-GA genotype had significantly lower levels of serum all-trans retinoic acid, an anticancer nutrient, than those with the rs138478634-GG genotype (P = 0.0004), most likely due to an enhanced capacity of variant CYP26B1 to catabolize this agent. These findings emphasize the important role of rare coding variants in the development of Esophageal squamous cell carcinoma.
Title: Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma.
Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient.
Title: Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
we provide the third family affected by the disorder and the first affected individual to survive beyond infancy. This woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability, a phenotype with significant similarities to Antley-Bixler and Pfeiffer syndromes.
Title: Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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

Associated conditions

Description	Tests
Lethal occipital encephalocele-skeletal dysplasia syndrome MedGen: C3280729 OMIM: 614416 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. 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

NoName (e-PCR)
- UniSTS:480637

Cyp26b1 (e-PCR), detects polymorphism
- UniSTS:525748

SGC32318 (e-PCR)
- UniSTS:23784

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables all-trans retinoic acid 18-hydroxylase 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 protein binding	IPI Inferred from Physical Interaction 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 bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cornification	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of T cell polarity	IEA Inferred from Electronic Annotation more info
involved_in establishment of skin barrier	IEA Inferred from Electronic Annotation more info
involved_in inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of retinoic acid receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of tongue muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of T cell differentiation	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	IBA Inferred from Biological aspect of Ancestor 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 retinoic acid receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in tongue morphogenesis	IEA Inferred from Electronic Annotation 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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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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

EC 1.14.13.-

NP_063938.1

EC 1.14.13.-

XP_005264490.1

EC 1.14.13.-

XP_011531290.1

EC 1.14.13.-

XP_047301075.1

EC 1.14.13.-

XP_047301076.1

EC 1.14.13.-

XP_054199008.1

EC 1.14.13.-

XP_054199009.1

EC 1.14.13.-

XP_054199010.1

EC 1.14.13.-

XP_054199011.1

EC 1.14.13.-

XP_054199012.1

EC 1.14.13.-

XP_054199013.1

EC 1.14.13.-

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_007957.1 RefSeqGene

Range

4973..23597

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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:68 → 415

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]
NM_019885.4 → NP_063938.1 cytochrome P450 26B1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC007002

Consensus CDS

CCDS1919.1

UniProtKB/Swiss-Prot

B2R8M7, B7Z2K6, B7Z2P4, B7Z3B8, E4W5W7, Q32MC0, Q53TW1, Q9NP41, Q9NR63

Related

ENSP00000001146.2, ENST00000001146.7

Conserved Domains (1) summary

cl12078
Location:23 → 490

p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

72129238..72147862 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047445119.1 → XP_047301075.1 cytochrome P450 26B1 isoform X2
XM_005264433.5 → XP_005264490.1 cytochrome P450 26B1 isoform X1

Conserved Domains (1) summary

cl12078
Location:14 → 432

p450; Cytochrome P450
XM_047445120.1 → XP_047301076.1 cytochrome P450 26B1 isoform X3

UniProtKB/TrEMBL

E7ER08

Related

ENSP00000401465.1, ENST00000412253.1
XM_011532988.2 → XP_011531290.1 cytochrome P450 26B1 isoform X3

UniProtKB/TrEMBL

E7ER08, Q68D05

Conserved Domains (1) summary

COG2124
Location:1 → 299

CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport and catabolism, Defense mechanisms]

Alternate T2T-CHM13v2.0

Genomic

NC_060926.1 Alternate T2T-CHM13v2.0

Range

72142327..72160951 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054343036.1 → XP_054199011.1 cytochrome P450 26B1 isoform X2
XM_054343035.1 → XP_054199010.1 cytochrome P450 26B1 isoform X2
XM_054343033.1 → XP_054199008.1 cytochrome P450 26B1 isoform X1
XM_054343034.1 → XP_054199009.1 cytochrome P450 26B1 isoform X2
XM_054343038.1 → XP_054199013.1 cytochrome P450 26B1 isoform X3

UniProtKB/TrEMBL

E7ER08
XM_054343037.1 → XP_054199012.1 cytochrome P450 26B1 isoform X3

UniProtKB/TrEMBL

E7ER08