InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP4V2

Summary

InnateDB Protein

IDBP-47440.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP4V2

Protein Name

cytochrome P450, family 4, subfamily V, polypeptide 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000368079

InnateDB Gene

IDBG-47438 (CYP4V2)

Protein Structure

UniProt Annotation

Function

Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye. {ECO:0000269PubMed:19661213}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.

Disease Associations

Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. {ECO:0000269PubMed:15042513}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes. {ECO:0000269PubMed:15042513}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004497	monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding

Biological Process

GO:0007601	visual perception
GO:0010430	fatty acid omega-oxidation
GO:0050896	response to stimulus
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane

Protein Structure and Domains

PDB ID

InterPro

IPR001128 Cytochrome P450
IPR002401 Cytochrome P450, E-class, group I
IPR002402 Cytochrome P450, E-class, group II
IPR002403 Cytochrome P450, E-class, group IV

PFAM

PF00067

PRINTS

PR00385
PR00463
PR00464
PR00465

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q6ZWL3