InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP7B1

Summary

InnateDB Protein

IDBP-23455.6

Last Modified

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

Gene Symbol

CYP7B1

Protein Name

cytochrome P450, family 7, subfamily B, polypeptide 1

Synonyms

CBAS3; CP7B; SPG5A;

Species

Homo sapiens

Ensembl Protein

ENSP00000310721

InnateDB Gene

IDBG-23453 (CYP7B1)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

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

Disease Associations

Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:18252231}. Note=The disease is caused by mutations affecting the gene represented in this entry.Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. {ECO:0000269PubMed:9802883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005506	iron ion binding
GO:0008396	oxysterol 7-alpha-hydroxylase activity
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding
GO:0033783	25-hydroxycholesterol 7alpha-hydroxylase activity

Biological Process

GO:0006699	bile acid biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0008203	cholesterol metabolic process
GO:0008206	bile acid metabolic process
GO:0008219	cell death
GO:0016125	sterol metabolic process
GO:0033147	negative regulation of intracellular estrogen receptor signaling pathway
GO:0044281	small molecule metabolic process
GO:0050679	positive regulation of epithelial cell proliferation
GO:0055114	oxidation-reduction process
GO:0060740	prostate gland epithelium morphogenesis