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Aliases for CYP26B1 Gene

Aliases for CYP26B1 Gene

  • Cytochrome P450, Family 26, Subfamily B, Polypeptide 1 2 3
  • P450RAI2 3 4 6
  • CYP26A2 3 4 6
  • Cytochrome P450 Retinoic Acid-Inactivating 2 3 4
  • Retinoic Acid-Metabolizing Cytochrome 3 4
  • RHFCA 3 6
  • Cytochrome P450, Subfamily XXVIB, Polypeptide 1 3
  • Cytochrome P450 Retinoid Metabolizing Protein 3
  • Cytochrome P450 26B1 3
  • Cytochrome P450 26A2 4
  • Cytochrome P450RAI-2 4
  • EC 1.14.-.- 4
  • P450RAI-2 3

External Ids for CYP26B1 Gene

Previous GeneCards Identifiers for CYP26B1 Gene

  • GC02M072330
  • GC02M072268
  • GC02M072209
  • GC02M072356

Summaries for CYP26B1 Gene

Entrez Gene Summary for CYP26B1 Gene

  • 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]

GeneCards Summary for CYP26B1 Gene

CYP26B1 (Cytochrome P450, Family 26, Subfamily B, Polypeptide 1) is a Protein Coding gene. Diseases associated with CYP26B1 include craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies and lethal occipital encephalocele-skeletal dysplasia syndrome. Among its related pathways are Metabolism and Vitamin A and carotenoid metabolism. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP26C1.

UniProtKB/Swiss-Prot for CYP26B1 Gene

  • 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.

Tocris Summary for CYP26B1 Gene

  • Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane. CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They are found at high levels in the liver, where they have an important role in metabolism of drugs and endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis, cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP26B1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP26B1 Gene

Genomics for CYP26B1 Gene

Regulatory Elements for CYP26B1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP26B1 Gene

Start:
72,129,238 bp from pter
End:
72,148,038 bp from pter
Size:
18,801 bases
Orientation:
Minus strand

Genomic View for CYP26B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP26B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP26B1 Gene

Proteins for CYP26B1 Gene

  • Protein details for CYP26B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR63-CP26B_HUMAN
    Recommended name:
    Cytochrome P450 26B1
    Protein Accession:
    Q9NR63
    Secondary Accessions:
    • B2R8M7
    • B7Z2K6
    • B7Z2P4
    • B7Z3B8
    • E4W5W7
    • Q32MC0
    • Q53TW1
    • Q9NP41

    Protein attributes for CYP26B1 Gene

    Size:
    512 amino acids
    Molecular mass:
    57513 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAH12154.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for CYP26B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP26B1 Gene

Proteomics data for CYP26B1 Gene at MOPED

Post-translational modifications for CYP26B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP26B1 Gene

No data available for DME Specific Peptides for CYP26B1 Gene

Domains for CYP26B1 Gene

Gene Families for CYP26B1 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP26B1 Gene

Suggested Antigen Peptide Sequences for CYP26B1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR63

UniProtKB/Swiss-Prot:

CP26B_HUMAN :
  • Q9NR63
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP26B1: view

Function for CYP26B1 Gene

Molecular function for CYP26B1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: By retinoic acid

Enzyme Numbers (IUBMB) for CYP26B1 Gene

Gene Ontology (GO) - Molecular Function for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 10823918
GO:0005506 iron ion binding IEA --
GO:0008401 retinoic acid 4-hydroxylase activity IDA 10823918
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0020037 heme binding NAS 10823918
genes like me logo Genes that share ontologies with CYP26B1: view
genes like me logo Genes that share phenotypes with CYP26B1: view

Animal Models for CYP26B1 Gene

MGI Knock Outs for CYP26B1:

Animal Model Products

CRISPR Products

miRNA for CYP26B1 Gene

miRTarBase miRNAs that target CYP26B1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP26B1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CYP26B1 Gene

Localization for CYP26B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP26B1 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP26B1 Gene COMPARTMENTS Subcellular localization image for CYP26B1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 2
cytosol 1
lysosome 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22899867
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CYP26B1: view

Pathways for CYP26B1 Gene

genes like me logo Genes that share pathways with CYP26B1: view

Pathways by source for CYP26B1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for CYP26B1 Gene

Gene Ontology (GO) - Biological Process for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination ISS --
GO:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0007140 male meiosis ISS --
GO:0007283 spermatogenesis ISS --
genes like me logo Genes that share ontologies with CYP26B1: view

Compounds for CYP26B1 Gene

(5) Tocris Compounds for CYP26B1 Gene

Compound Action Cas Number
Exemestane Steroidal aromatase (CYP19) inhibitor [107868-30-4]
Ketoconazole Cytochrome P450c17 inhibitor [65277-42-1]
Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
Methoxyresorufin Fluorometric CYP450 substrate [5725-89-3]
Pentoxyresorufin Fluorometric cytochrome P450 substrate [87687-03-4]

(1) HMDB Compounds for CYP26B1 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with CYP26B1: view

Transcripts for CYP26B1 Gene

Unigene Clusters for CYP26B1 Gene

Cytochrome P450, family 26, subfamily B, polypeptide 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP26B1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP26B1 Gene

No ASD Table

Relevant External Links for CYP26B1 Gene

GeneLoc Exon Structure for
CYP26B1
ECgene alternative splicing isoforms for
CYP26B1

Expression for CYP26B1 Gene

mRNA expression in normal human tissues for CYP26B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP26B1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP26B1 Gene

SOURCE GeneReport for Unigene cluster for CYP26B1 Gene Hs.91546

mRNA Expression by UniProt/SwissProt for CYP26B1 Gene

Q9NR63-CP26B_HUMAN
Tissue specificity: Highly expressed in brain, particularly in the cerebellum and pons.
genes like me logo Genes that share expressions with CYP26B1: view

In Situ Assay Products

Orthologs for CYP26B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP26B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP26B1 36
  • 100 (a)
OneToOne
LOC738157 35
  • 99.35 (n)
  • 99.61 (a)
cow
(Bos Taurus)
Mammalia CYP26B1 35
  • 92.45 (n)
  • 97.46 (a)
CYP26B1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP26B1 35
  • 93.1 (n)
  • 97.07 (a)
CYP26B1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp26b1 35
  • 89 (n)
  • 96.29 (a)
Cyp26b1 16
Cyp26b1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP26B1 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp26b1 35
  • 88.93 (n)
  • 95.9 (a)
chicken
(Gallus gallus)
Aves CYP26B1 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp26b1 35
  • 76.45 (n)
  • 85.32 (a)
Str.12974 35
zebrafish
(Danio rerio)
Actinopterygii cyp26b1 35
  • 72.02 (n)
  • 75.15 (a)
cyp26b1 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cyp313a1 36
  • 20 (a)
ManyToMany
Cyp313a2 36
  • 18 (a)
ManyToMany
Cyp313a3 36
  • 18 (a)
ManyToMany
Cyp313a4 36
  • 20 (a)
ManyToMany
Cyp313a5 36
  • 19 (a)
ManyToMany
Cyp313b1 36
  • 20 (a)
ManyToMany
Cyp318a1 36
  • 18 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 36
  • 20 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP707A3 35
  • 41 (n)
  • 33.26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
CSA.5303 36
  • 35 (a)
ManyToMany
Species with no ortholog for CYP26B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP26B1 Gene

ENSEMBL:
Gene Tree for CYP26B1 (if available)
TreeFam:
Gene Tree for CYP26B1 (if available)

Paralogs for CYP26B1 Gene

Paralogs for CYP26B1 Gene

Selected SIMAP similar genes for CYP26B1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CYP26B1: view

Variants for CYP26B1 Gene

Sequence variations from dbSNP and Humsavar for CYP26B1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs707718 -- 72,129,320(-) AAAAA(A/C)ATGAA utr-variant-3-prime
rs887842 -- 72,129,498(-) GTAAA(A/C)TATGA utr-variant-3-prime
rs887843 -- 72,129,222(-) GTTGC(C/G)TCTCT downstream-variant-500B
rs887844 -- 72,129,066(-) AGAGG(C/T)CTGTG downstream-variant-500B
rs917896 -- 72,147,306(-) GCGCG(A/G)TCCCG intron-variant

Relevant External Links for CYP26B1 Gene

HapMap Linkage Disequilibrium report
CYP26B1
Human Gene Mutation Database (HGMD)
CYP26B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CYP26B1 Gene

Disorders for CYP26B1 Gene

(1) OMIM Diseases for CYP26B1 Gene (605207)

UniProtKB/Swiss-Prot

CP26B_HUMAN
  • Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. {ECO:0000269 PubMed:22019272}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CYP26B1

Genetic Association Database (GAD)
CYP26B1
Human Genome Epidemiology (HuGE) Navigator
CYP26B1
genes like me logo Genes that share disorders with CYP26B1: view

Publications for CYP26B1 Gene

  1. Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism. (PMID: 10823918) White J.A. … Petkovich M. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  2. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. (PMID: 22019272) Laue K. … Robertson S.P. (Am. J. Hum. Genet. 2011) 3 4
  3. A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid. (PMID: 20375987) El Kares R. … Goodyer P. (Kidney Int. 2010) 3 48
  4. Positive association between ALDH1A2 and schizophrenia in the Chinese population. (PMID: 19703508) Wan C. … He L. (Prog. Neuropsychopharmacol. Biol. Psychiatry 2009) 3 48
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for CYP26B1 Gene

Sources for CYP26B1 Gene

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