BCO1 - beta-carotene oxygenase 1 Gene

Also Known as BCO; BCDO; BCMO; BCDO1; BCMO1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53630

About BCO1

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,238,689-81,291,142 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in small intestine (RPKM 7.4), duodenum (RPKM 3.9) and 4 other tissues.

Summary

Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]

BCO1 Products (1)

mRNA Protein Name
NM_017429.3 NP_059125.2 beta,beta-carotene 15,15'-dioxygenase
Molecular Function GO Annotation Evidence References Source
enables beta-carotene 15,15'-dioxygenase activity IDA
IDA: Inferred from direct assay
11401432 GOA
enables beta-carotene 15,15'-dioxygenase activity IMP
IMP: Inferred from mutant phenotype
17951468 GOA
Biological Process GO Annotation Evidence References Source
involved in carotene catabolic process IDA
IDA: Inferred from direct assay
11401432 GOA
involved in carotene catabolic process IMP
IMP: Inferred from mutant phenotype
17951468 GOA
involved in retinal metabolic process IDA
IDA: Inferred from direct assay
11401432 GOA
involved in retinal metabolic process IMP
IMP: Inferred from mutant phenotype
17951468 GOA
involved in retinoid metabolic process IDA
IDA: Inferred from direct assay
11401432 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BCO1 Protein Structure

RPE65

RPE65: Retinal pigment epithelial membrane protein (5 - 519)

  • 0
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  • 400
  • 500
  • 547 a.a.
Protein Preferred Names Protein Names

beta,beta-carotene 15,15'-dioxygenase

  • beta,beta-carotene 15,15'-monooxygenase

Related Diseases

Diseases Alias
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
  • HCVAD

  • Hypercarotenemia And Hypovitaminosis A

  • Vitamin A Deficiency

Hereditary Hypercarotenemia And Vitamin A Deficiency
Carotenemia
  • Hypercarotinemia

Hypervitaminosis A
  • Hypervitaminosis A, Susceptibility To

  • Hyperalimentation Of Vitamin A

Xerophthalmia
  • Conjunctival Xerosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris BCO1 VGNC VGNC:38417
Felis catus BCO1 VGNC VGNC:60091
Macaca mulatta BCO1 VGNC VGNC:99488
Rattus norvegicus BCO1 RGD RGD:70981
Mus musculus BCO1 MGD MGI:1926923
Bos taurus BCO1 VGNC VGNC:26453
Others BCO1 NCBI