CYP7B1

Protein identityUniProt · HPA

UniProt accession

O75881

Gene

CYP7B1

Ensembl

ENSG00000172817

Chromosome

8

Canonical length

506 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

506 residues, UniProt reviewed canonical sequence.

>O75881|CYP7B1
     1  MAGEVSAATG RFSLERLGLP GLALAAALLL LALCLLVRRT RRPGEPPLIK GWLPYLGVVL
    61  NLRKDPLRFM KTLQKQHGDT FTVLLGGKYI TFILDPFQYQ LVIKNHKQLS FRVFSNKLLE
   121  KAFSISQLQK NHDMNDELHL CYQFLQGKSL DILLESMMQN LKQVFEPQLL KTTSWDTAEL
   181  YPFCSSIIFE ITFTTIYGKV IVCDNNKFIS ELRDDFLKFD DKFAYLVSNI PIELLGNVKS
   241  IREKIIKCFS SEKLAKMQGW SEVFQSRQDV LEKYYVHEDL EIGAHHLGFL WASVANTIPT
   301  MFWAMYYLLR HPEAMAAVRD EIDRLLQSTG QKKGSGFPIH LTREQLDSLI CLESSIFEAL
   361  RLSSYSTTIR FVEEDLTLSS ETGDYCVRKG DLVAIFPPVL HGDPEIFEAP EEFRYDRFIE
   421  DGKKKTTFFK RGKKLKCYLM PFGTGTSKCP GRFFALMEIK QLLVILLTYF DLEIIDDKPI
   481  GLNYSRLLFG IQYPDSDVLF RYKVKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CYP7B1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

20 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CYP7B1.

Disease | AllUniProt

Conditions CYP7B1 is implicated in, by any mechanism.

• Spastic paraplegia 5A, autosomal recessive (SPG5A) MIM:270800
• Congenital bile acid synthesis defect 3 (CBAS3) MIM:613812

Disease | GeneticClinVar

82 pathogenic / likely-pathogenic of 612 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spastic paraplegia
• Hereditary spastic paraplegia 5A
• Congenital bile acid synthesis defect 3
• Hereditary spastic paraplegia
• CYP7B1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

-0.39

DepMap mean gene effect

0.12

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell chemotaxis
• bile acid biosynthetic process
• cholesterol homeostasis
• cholesterol metabolic process
• epithelial cell proliferation
• estrogen receptor signaling pathway
• negative regulation of intracellular estrogen receptor signaling pathway
• positive regulation of epithelial cell proliferation
• prostate gland epithelium morphogenesis
• steroid biosynthetic process
• sterol metabolic process

Molecular functions

• 24S-hydroxycholesterol 7-alpha-hydroxylase activity
• heme binding
• iron ion binding
• oxysterol 7-alpha-hydroxylase activity
• steroid hydroxylase activity
• 25-hydroxycholesterol 7-alpha-hydroxylase activity

Cellular components

• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• Cytochrome P450
• Cytochrome P450, E-class, group IV
• Cytochrome P450, cholesterol 7-alpha-monooxygenase-type
• Cytochrome P450 superfamily
• Lanosterol 14-alpha demethylase-like
• Cytochrome P450

KeywordsUniProt

• Cholesterol metabolism
• Endoplasmic reticulum
• Heme
• Hereditary spastic paraplegia
• Intrahepatic cholestasis
• Iron
• Lipid biosynthesis
• Lipid metabolism
• Membrane
• Metal-binding
• Microsome
• Monooxygenase
• Neurodegeneration
• Oxidoreductase
• Steroid biosynthesis
• Steroid metabolism
• Sterol metabolism
• Transmembrane
• Transmembrane helix