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CYP7B1 cytochrome P450 family 7 subfamily B member 1 [ Homo sapiens (human) ]

Gene ID: 9420, updated on 1-Aug-2020

Summary

Official Symbol
CYP7B1provided by HGNC
Official Full Name
cytochrome P450 family 7 subfamily B member 1provided by HGNC
Primary source
HGNC:HGNC:2652
See related
Ensembl:ENSG00000172817 MIM:603711
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP7B; CBAS3; SPG5A
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 2.3), liver (RPKM 1.9) and 23 other tissues See more
Orthologs

Genomic context

See CYP7B1 in Genome Data Viewer
Location:
8q12.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (64586575..64798737, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (65508529..65711348, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit NDUFA4 pseudogene Neighboring gene uncharacterized LOC401463 Neighboring gene basic helix-loop-helix family member e22 Neighboring gene uncharacterized LOC105375879 Neighboring gene uncharacterized LOC105375878 Neighboring gene uncharacterized LOC105375880

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bile acid synthesis defect, congenital, 3
MedGen: C3151147 OMIM: 613812 GeneReviews: Not available
Compare labs
Hereditary spastic paraplegia 5A
MedGen: C1849115 OMIM: 270800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association study of retinopathy in individuals without diabetes.
NHGRI GWA Catalog
Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
25-hydroxycholesterol 7alpha-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
 
27-hydroxycholesterol 7-alpha-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxysterol 7-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxysterol 7-alpha-hydroxylase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
B cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
bile acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
bile acid biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of intracellular estrogen receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cytochrome P450 7B1
Names
24-hydroxycholesterol 7-alpha-hydroxylase
25-hydroxycholesterol 7-alpha-hydroxylase
25/26-hydroxycholesterol 7-alpha-hydroxylase
3-hydroxysteroid 7-alpha hydroxylase
cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1
oxysterol 7-alpha-hydroxylase
NP_001311041.1
NP_004811.1
XP_016869491.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008338.2 RefSeqGene

    Range
    5055..212941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001324112.2NP_001311041.1  cytochrome P450 7B1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region and contains an alternate 3' terminal exon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC090136, AC104232, BC029155, BM729103
    UniProtKB/TrEMBL
    Q05C57
  2. NM_004820.5NP_004811.1  cytochrome P450 7B1 isoform 1

    See identical proteins and their annotated locations for NP_004811.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090136, AC104232, BC029155, BP349825, BQ575990
    Consensus CDS
    CCDS6180.1
    UniProtKB/Swiss-Prot
    O75881
    UniProtKB/TrEMBL
    Q05C57
    Related
    ENSP00000310721.3, ENST00000310193.4
    Conserved Domains (1) summary
    cl12078
    Location:43490
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    64586575..64798737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014002.1XP_016869491.1  cytochrome P450 7B1 isoform X1

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