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Aliases for CYP7B1 Gene

Aliases for CYP7B1 Gene

  • Cytochrome P450 Family 7 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 2 3
  • Cytochrome P450, Family 7, Subfamily B, Polypeptide 1 2 3
  • Oxysterol 7-Alpha-Hydroxylase 3 4
  • Cytochrome P450 7B1 3 4
  • Spastic Paraplegia 5A (Autosomal Recessive) 2
  • EC 1.14.13.100 4
  • CBAS3 3
  • SPG5A 3
  • CP7B 3

External Ids for CYP7B1 Gene

Previous HGNC Symbols for CYP7B1 Gene

  • SPG5A

Previous GeneCards Identifiers for CYP7B1 Gene

  • GC08M064752
  • GC08M065448
  • GC08M065223
  • GC08M065558
  • GC08M065671
  • GC08M060998
  • GC08M065500

Summaries for CYP7B1 Gene

Entrez Gene Summary for CYP7B1 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]

GeneCards Summary for CYP7B1 Gene

CYP7B1 (Cytochrome P450 Family 7 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP7B1 include spastic paraplegia 5a, autosomal recessive and bile acid synthesis defect, congenital, 3. Among its related pathways are Metabolism and cytochrome P450. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP8B1.

Gene Wiki entry for CYP7B1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP7B1 Gene

Genomics for CYP7B1 Gene

Regulatory Elements for CYP7B1 Gene

Promoters for CYP7B1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYP7B1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP7B1 Gene

Chromosome:
8
Start:
64,587,763 bp from pter
End:
64,798,791 bp from pter
Size:
211,029 bases
Orientation:
Minus strand

Genomic View for CYP7B1 Gene

Genes around CYP7B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP7B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP7B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP7B1 Gene

Proteins for CYP7B1 Gene

  • Protein details for CYP7B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75881-CP7B1_HUMAN
    Recommended name:
    25-hydroxycholesterol 7-alpha-hydroxylase
    Protein Accession:
    O75881
    Secondary Accessions:
    • B2RN07
    • Q9UNF5

    Protein attributes for CYP7B1 Gene

    Size:
    506 amino acids
    Molecular mass:
    58256 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

neXtProt entry for CYP7B1 Gene

Proteomics data for CYP7B1 Gene at MOPED

Post-translational modifications for CYP7B1 Gene

  • Ubiquitination at Lys 218 and Lys 256
  • Modification sites at PhosphoSitePlus

Other Protein References for CYP7B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CYP7B1 Gene

Domains & Families for CYP7B1 Gene

Gene Families for CYP7B1 Gene

Protein Domains for CYP7B1 Gene

Suggested Antigen Peptide Sequences for CYP7B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75881

UniProtKB/Swiss-Prot:

CP7B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP7B1: view

Function for CYP7B1 Gene

Molecular function for CYP7B1 Gene

GENATLAS Biochemistry:
cytochrome p450,subfamily VIIB (oxysterol 7 alpha hydroxylase),polypeptide 1,microsomal,component of the acidic pathway of primary bile acids synthesis,closely linked to CYP7A1
UniProtKB/Swiss-Prot CatalyticActivity:
Cholest-5-ene-3-beta,25-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
(25R)-cholest-5-ene-3-beta,26-diol + NADPH + O(2) = (25R)-cholest-5-ene-3-beta,7-alpha,26-triol + NADP(+) + H(2)O.

Enzyme Numbers (IUBMB) for CYP7B1 Gene

Gene Ontology (GO) - Molecular Function for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008396 oxysterol 7-alpha-hydroxylase activity IEA,TAS --
genes like me logo Genes that share ontologies with CYP7B1: view
genes like me logo Genes that share phenotypes with CYP7B1: view

Human Phenotype Ontology for CYP7B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP7B1 Gene

MGI Knock Outs for CYP7B1:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CYP7B1 Gene

Localization for CYP7B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP7B1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP7B1 Gene COMPARTMENTS Subcellular localization image for CYP7B1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
golgi apparatus 2
peroxisome 2
cytosol 1
lysosome 1
nucleus 1
plasma membrane 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CYP7B1 Gene

Pathways & Interactions for CYP7B1 Gene

genes like me logo Genes that share pathways with CYP7B1: view

UniProtKB/Swiss-Prot O75881-CP7B1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.

Interacting Proteins for CYP7B1 Gene

Gene Ontology (GO) - Biological Process for CYP7B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006699 bile acid biosynthetic process TAS --
GO:0008203 cholesterol metabolic process IEA --
GO:0016125 sterol metabolic process TAS --
GO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with CYP7B1: view

No data available for SIGNOR curated interactions for CYP7B1 Gene

Drugs & Compounds for CYP7B1 Gene

(8) Drugs for CYP7B1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pregnenolone Experimental Pharma 0
25-Hydroxycholesterol Pharma Agonist 0
27-hydroxycholesterol Pharma Agonist 0
Epiandrosterone Pharma 0
heme Pharma Agonist 0

(16) Additional Compounds for CYP7B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3 beta,7 alpha-Dihydroxy-5-cholestenoate
  • (3beta,7alpha)-3,7-dihydroxy-Cholest-5-en-26-oate
  • (3beta,7alpha)-3,7-dihydroxy-Cholest-5-en-26-oic acid
  • 3 beta,7 alpha-Dihydroxy-5-cholesten-26-oate
  • 3 beta,7 alpha-Dihydroxy-5-cholesten-26-oic acid
  • 3,7-Dihydroxy-5-cholestenoate
115538-84-6
3 beta-Hydroxy-5-cholestenoate
  • (3beta)-3-hydroxy-Cholest-5-en-26-oate
  • (3beta)-3-hydroxy-Cholest-5-en-26-oic acid
  • 3 beta-Hydroxycholest-5-en-27-oate
  • 3 beta-Hydroxycholest-5-en-27-oic acid
  • 3-HCOA
6561-58-6
7-a,25-Dihydroxycholesterol
  • 7-a,25-Dihydroxycholesterol
  • 7-alpha,25-Dihydroxycholesterol
  • 7alpha,25-Dihydroxycholesterol
  • Cholest-5-ene-3-b,7-a,25-triol
  • Cholest-5-ene-3-beta,7-alpha,25-triol
64907-22-8
7-a,27-Dihydroxycholesterol
  • 5-Cholestene-3beta,7alpha,26-triol
  • 7-alpha,27-Dihydroxycholesterol
  • 7alpha,26-dihydroxycholesterol
  • 7alpha,27-Dihydroxycholesterol
  • Cholest-5-ene-3,7,27-triol
4725-24-0
7a-Hydroxydehydroepiandrosterone
  • (-)-7a-Hydroxydehydroepiandrosterone
  • (3b,7a)-3,7-dihydroxy-Androst-5-en-17-one
  • 3b,7a-Dihydroxy-5-androsten-17-one
  • 3b,7a-Dihydroxy-5-androstene-17-one
  • 3b,7a-Dihydroxy-Androst-5-en-17-one
53-00-9
genes like me logo Genes that share compounds with CYP7B1: view

Transcripts for CYP7B1 Gene

mRNA/cDNA for CYP7B1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP7B1 Gene

Cytochrome P450, family 7, subfamily B, polypeptide 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP7B1 Gene

No ASD Table

Relevant External Links for CYP7B1 Gene

GeneLoc Exon Structure for
CYP7B1
ECgene alternative splicing isoforms for
CYP7B1

Expression for CYP7B1 Gene

mRNA expression in normal human tissues for CYP7B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CYP7B1 Gene

This gene is overexpressed in Liver (12.9), Stomach (10.5), Spleen (8.5), and Tlymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYP7B1 Gene



SOURCE GeneReport for Unigene cluster for CYP7B1 Gene Hs.667720

mRNA Expression by UniProt/SwissProt for CYP7B1 Gene

O75881-CP7B1_HUMAN
Tissue specificity: Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine.
genes like me logo Genes that share expression patterns with CYP7B1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for CYP7B1 Gene

Orthologs for CYP7B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7B1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CYP7B1 35
  • 81.3 (n)
  • 71.66 (a)
CYP7B1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP7B1 35
  • 84.02 (n)
  • 74.59 (a)
CYP7B1 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp7b1 35
  • 76.88 (n)
  • 67.23 (a)
Cyp7b1 16
Cyp7b1 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CYP7B1 35
  • 99.6 (n)
  • 99.41 (a)
CYP7B1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp7b1 35
  • 76.38 (n)
  • 66.6 (a)
oppossum
(Monodelphis domestica)
Mammalia CYP7B1 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP7B1 36
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP7B1 35
  • 65.81 (n)
  • 53.76 (a)
CYP7B1 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP7B1 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cyp7b1 35
  • 63.11 (n)
  • 52.99 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC570455 35
  • 53.28 (n)
  • 43.84 (a)
cyp7c1 36
  • 41 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
CSA.4049 36
  • 36 (a)
ManyToMany
Species with no ortholog for CYP7B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP7B1 Gene

ENSEMBL:
Gene Tree for CYP7B1 (if available)
TreeFam:
Gene Tree for CYP7B1 (if available)

Paralogs for CYP7B1 Gene

Paralogs for CYP7B1 Gene

(5) SIMAP similar genes for CYP7B1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CYP7B1: view

Variants for CYP7B1 Gene

Sequence variations from dbSNP and Humsavar for CYP7B1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_044382 Spastic paraplegia 5A, autosomal recessive (SPG5A)
VAR_044383 Spastic paraplegia 5A, autosomal recessive (SPG5A)
VAR_044384 Spastic paraplegia 5A, autosomal recessive (SPG5A)
VAR_044385 Spastic paraplegia 5A, autosomal recessive (SPG5A)
VAR_075505 -

Structural Variations from Database of Genomic Variants (DGV) for CYP7B1 Gene

Variant ID Type Subtype PubMed ID
nsv6231 CNV Loss 18451855
esv1348104 CNV Deletion 17803354
esv1348944 CNV Deletion 17803354

Variation tolerance for CYP7B1 Gene

Residual Variation Intolerance Score: 8.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.14% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP7B1 Gene

HapMap Linkage Disequilibrium report
CYP7B1
Human Gene Mutation Database (HGMD)
CYP7B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP7B1 Gene

Disorders for CYP7B1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CYP7B1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 5a, autosomal recessive
  • spg5a
bile acid synthesis defect, congenital, 3
  • cbas3
spastic paraplegia 5a
  • spastic paraplegia 5a, autosomal recessive
paraplegia
  • paraplegia, lower
congenital bile acid synthesis defect
  • 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP7B1_HUMAN
  • 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:0000269 PubMed:9802883}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:0000269 PubMed:18252231, ECO:0000269 PubMed:19439420, ECO:0000269 PubMed:21214876, ECO:0000269 PubMed:24117163, ECO:0000269 PubMed:26714052}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CYP7B1 Gene

severe cholestasis with neonatal cirrhosis and liver synthetic failure with extremely high levels of 27-hydroxycholesterol

Relevant External Links for CYP7B1

Genetic Association Database (GAD)
CYP7B1
Human Genome Epidemiology (HuGE) Navigator
CYP7B1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP7B1
genes like me logo Genes that share disorders with CYP7B1: view

Publications for CYP7B1 Gene

  1. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. (PMID: 18252231) Tsaousidou M.K. … Crosby A.H. (Am. J. Hum. Genet. 2008) 2 3 4 23 67
  2. Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PMID: 17467270) Hennebert O. … Morfin R. (J. Steroid Biochem. Mol. Biol. 2007) 3 23 26
  3. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. (PMID: 19363635) Criscuolo C. … De Michele G. (J. Neurol. 2009) 3 23
  4. CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. (PMID: 19439420) Goizet C. … Stevanin G. (Brain 2009) 3 23
  5. CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions. (PMID: 19687010) Stiles A.R. … Russell D.W. (J. Biol. Chem. 2009) 3 23

Products for CYP7B1 Gene

Sources for CYP7B1 Gene

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