Gene/Proteome Database (LMPD)

LMPD ID
LMP005026
Gene ID
56603
Species
Homo sapiens (Human)
Gene Name
cytochrome P450, family 26, subfamily B, polypeptide 1
Gene Symbol
CYP26B1
Synonyms
CYP26A2; P450RAI-2; P450RAI2; RHFCA
Alternate Names
cytochrome P450 26B1; retinoic acid-metabolizing cytochrome; cytochrome P450 retinoic acid-inactivating 2; cytochrome P450 retinoid metabolizing protein; cytochrome P450, subfamily XXVIB, polypeptide 1
Chromosome
2
Map Location
2p13.2
EC Number
1.14.-.-
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]
Orthologs
View orthologs and multiple alignments for CYP26B1

Proteins

cytochrome P450 26B1 isoform 1
Refseq ID NP_063938
Protein GI 9845285
UniProt ID Q9NR63
mRNA ID NM_019885
Length 512
RefSeq Status REVIEWED
MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLLQGSGFQSSRREKYGNVFKTHLLGRPLIRVTGAENVRKILMGEHHLVSTEWPRSTRMLLGPNTVSNSIGDIHRNKRKVFSKIFSHEALESYLPKIQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHLFEVYQQFVDNVFSLPVDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKEHGKEMTMQELKDGTLELIFAAYATTASASTSLIMQLLKHPTVLEKLRDELRAHGILHSGGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTVLQTFELDGFQIPKGWSVMYSIRDTHDTAPVFKDVNVFDPDRFSQARSEDKDGRFHYLPFGGGVRTCLGKHLAKLFLKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAMLSATV
cytochrome P450 26B1 isoform 2
Refseq ID NP_001264671
Protein GI 480540323
UniProt ID Q9NR63
mRNA ID NM_001277742
Length 437
RefSeq Status REVIEWED
MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLLQVFSKIFSHEALESYLPKIQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHLFEVYQQFVDNVFSLPVDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKEHGKEMTMQELKDGTLELIFAAYATTASASTSLIMQLLKHPTVLEKLRDELRAHGILHSGGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTVLQTFELDGFQIPKGWSVMYSIRDTHDTAPVFKDVNVFDPDRFSQARSEDKDGRFHYLPFGGGVRTCLGKHLAKLFLKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAMLSATV

Gene Information

Entrez Gene ID
56603
Gene Name
cytochrome P450, family 26, subfamily B, polypeptide 1
Gene Symbol
CYP26B1
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:UniProtKB C cytoplasm
GO:0005789 TAS:Reactome C endoplasmic reticulum membrane
GO:0020037 NAS:BHF-UCL F heme binding
GO:0005506 IEA:InterPro F iron ion binding
GO:0008401 IDA:BHF-UCL F retinoic acid 4-hydroxylase activity
GO:0001972 IDA:BHF-UCL F retinoic acid binding
GO:0060349 IMP:UniProtKB P bone morphogenesis
GO:0001709 ISS:BHF-UCL P cell fate determination
GO:0071300 IEA:Ensembl P cellular response to retinoic acid
GO:0070268 IEA:Ensembl P cornification
GO:0030326 ISS:BHF-UCL P embryonic limb morphogenesis
GO:0061436 IEA:Ensembl P establishment of skin barrier
GO:0007140 ISS:BHF-UCL P male meiosis
GO:0048387 TAS:BHF-UCL P negative regulation of retinoic acid receptor signaling pathway
GO:0055114 IDA:BHF-UCL P oxidation-reduction process
GO:0010628 IEA:Ensembl P positive regulation of gene expression
GO:2001037 IEA:Ensembl P positive regulation of tongue muscle cell differentiation
GO:0009954 ISS:BHF-UCL P proximal/distal pattern formation
GO:0034653 IDA:BHF-UCL P retinoic acid catabolic process
GO:0048384 IEA:Ensembl P retinoic acid receptor signaling pathway
GO:0044281 TAS:Reactome P small molecule metabolic process
GO:0007283 ISS:BHF-UCL P spermatogenesis
GO:0043587 IEA:Ensembl P tongue morphogenesis
GO:0006766 TAS:Reactome P vitamin metabolic process
GO:0006805 TAS:Reactome P xenobiotic metabolic process

Domain Information

InterPro Annotations

Accession Description
IPR001128 Cytochrome P450
IPR002403 Cytochrome P450, E-class, group IV
IPR017972 Cytochrome P450, conserved site

UniProt Annotations

Entry Information

Gene Name
cytochrome P450, family 26, subfamily B, polypeptide 1
Protein Entry
CP26B_HUMAN
UniProt ID
Q9NR63
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR63-1; Sequence=Displayed; Name=2; IsoId=Q9NR63-2; Sequence=VSP_042968; Name=3; IsoId=Q9NR63-3; Sequence=VSP_042967; Note=No experimental confirmation available.;
Cofactor Name=heme; Xref=ChEBI
Disease Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM
Function Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH- RA. Esential for postnatal survival. Plays a central role in germ cell development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints. {ECO
Induction By retinoic acid.
Sequence Caution Sequence=BAH12154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence= ;
Similarity Belongs to the cytochrome P450 family.
Subcellular Location Endoplasmic reticulum membrane {ECO
Tissue Specificity Highly expressed in brain, particularly in the cerebellum and pons.
Web Resource Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp26b1/";

Identical and Related Proteins

Unique RefSeq proteins for LMP005026 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
9845285 RefSeq NP_063938 512 cytochrome P450 26B1 isoform 1
480540323 RefSeq NP_001264671 437 cytochrome P450 26B1 isoform 2

Identical Sequences to LMP005026 proteins

Reference Database Accession Length Protein Name
GI:480540323 DBBJ BAH11892.1 437 unnamed protein product [Homo sapiens]
GI:9845285 GenBank ABJ47789.1 512 Sequence 5 from patent US 7115558
GI:9845285 GenBank EAW99761.1 512 cytochrome P450, family 26, subfamily B, polypeptide 1 [Homo sapiens]
GI:9845285 GenBank ACC18712.1 512 Sequence 4 from patent US 7335756
GI:9845285 GenBank ACS08420.1 512 Sequence 5 from patent US 7537919
GI:9845285 GenBank ACW42289.1 512 Sequence 5 from patent US 7579329
GI:9845285 GenBank AIC51915.1 512 CYP26B1, partial [synthetic construct]

Related Sequences to LMP005026 proteins

Reference Database Accession Length Protein Name
GI:9845285 DBBJ BAG36224.1 512 unnamed protein product [Homo sapiens]
GI:480540323 GenBank ACR19332.1 437 cytochrome P450 CYP26B1 variant 2 [Homo sapiens]
GI:9845285 RefSeq XP_001149367.1 512 PREDICTED: cytochrome P450 26B1 isoform X1 [Pan troglodytes]
GI:480540323 RefSeq XP_001103025.2 437 PREDICTED: cytochrome P450 26B1-like [Macaca mulatta]
GI:9845285 RefSeq XP_002811948.1 512 PREDICTED: cytochrome P450 26B1 isoform X1 [Pongo abelii]
GI:9845285 RefSeq XP_003262585.1 512 PREDICTED: cytochrome P450 26B1-like [Nomascus leucogenys]
GI:480540323 RefSeq XP_003793466.1 437 PREDICTED: cytochrome P450 26B1-like isoform 2 [Otolemur garnettii]
GI:9845285 RefSeq XP_004029459.1 512 PREDICTED: cytochrome P450 26B1-like [Gorilla gorilla gorilla]
GI:480540323 RefSeq XP_004582864.1 437 PREDICTED: cytochrome P450 26B1-like isoform X2 [Ochotona princeps]
GI:9845285 RefSeq XP_005575674.1 512 PREDICTED: cytochrome P450 26B1-like isoform X1 [Macaca fascicularis]
GI:480540323 RefSeq XP_005575676.1 437 PREDICTED: cytochrome P450 26B1-like isoform X3 [Macaca fascicularis]
GI:480540323 RefSeq XP_008145682.1 437 PREDICTED: cytochrome P450 26B1 isoform X2 [Eptesicus fuscus]