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

    Gene ID: 9420, updated on 3-Apr-2024

    Summary

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    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; AllianceGenome:HGNC:2652
    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
    mouse all
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    Genomic context

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    See CYP7B1 in Genome Data Viewer
    Location:
    8q12.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (64586575..64798737, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (65011997..65224254, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (65499132..65711294, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900252 Neighboring gene BHLHE22 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27455 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:65499285-65499928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:65499929-65500572 Neighboring gene NANOG hESC enhancer GRCh37_chr8:65522320-65522853 Neighboring gene basic helix-loop-helix family member e22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19244 Neighboring gene uncharacterized LOC105375879 Neighboring gene uncharacterized LOC105375878 Neighboring gene NANOG hESC enhancer GRCh37_chr8:65843197-65843698 Neighboring gene uncharacterized LOC105375880

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations. Theuriet J, et al. Genes (Basel), 2021 Nov 25. PMID 34946825, Free PMC Article
    2. Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5. Chou CT, et al. Ann Clin Transl Neurol, 2020 Apr. PMID 32202070, Free PMC Article
    3. Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection. Sironi M, et al. Retrovirology, 2015 Sep 24. PMID 26399852, Free PMC Article
    4. SPG5 and multiple sclerosis: clinical and genetic overlap? Criscuolo C, et al. Acta Neurol Scand, 2016 Jun. PMID 26370385
    5. An omics investigation into chronic widespread musculoskeletal pain reveals epiandrosterone sulfate as a potential biomarker. Livshits G, et al. Pain, 2015 Oct. PMID 25915148, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
      Title: Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations.
    2. Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
      Title: Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.
    3. Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
      Title: Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
    4. AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
      Title: AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
    5. This study provides evidence for CYP7B1 as a key regulator of three vital intracellular regulatory oxysterol levels.
      Title: Mitochondrial oxysterol biosynthetic pathway gives evidence for CYP7B1 as controller of regulatory oxysterols.
    6. SPG11 and CYP7B1 were the most common cause of autosomal recessive hereditary spastic paraplegia in Greece.
      Title: Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
    7. miR17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer.
      Title: MicroRNA-17 induces epithelial-mesenchymal transition consistent with the cancer stem cell phenotype by regulating CYP7B1 expression in colon cancer.
    8. The two novel variants cosegregated with pyramidal signs and autoimmune diseases suggesting that they might be susceptibility factors.
      Title: SPG5 and multiple sclerosis: clinical and genetic overlap?
    9. Data indicate two novel homozygous mutations (one frameshift and one missense mutation) detected in CYP7B1 (SPG5A), while no disease-causing mutation was identified for PNPLA6 (SPG39) and C19orf12 (SPG43).
      Title: Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.
    10. Data indicated that the two GWAS-defined variants in the CYP7B1 region do not strongly influence HIV-1 infection susceptibility.
      Title: Variants in the CYP7B1 gene region do not affect natural resistance to HIV-1 infection.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 24-hydroxycholesterol 7alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 25-hydroxycholesterol 7alpha-hydroxylase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables 27-hydroxycholesterol 7-alpha-monooxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heme binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables oxysterol 7-alpha-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables oxysterol 7-alpha-hydroxylase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables oxysterol 7-alpha-hydroxylase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in B cell chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in bile acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in bile acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bile acid biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular estrogen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of intracellular estrogen receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in prostate gland epithelium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sterol metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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
    XP_054217511.1

    NCBI Reference Sequences (RefSeq)

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    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_001324112.2 → NP_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
      Conserved Domains (1) summary
      cl12078
      Location:43 → 412
      p450; Cytochrome P450

    2. NM_004820.5 → NP_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
      B2RN07, O75881, Q9UNF5
      UniProtKB/TrEMBL
      Q05C57
      Related
      ENSP00000310721.3, ENST00000310193.4
      Conserved Domains (1) summary
      cl12078
      Location:43 → 488
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017014002.2 → XP_016869491.1  cytochrome P450 7B1 isoform X1

      UniProtKB/TrEMBL
      Q05C57
      Conserved Domains (1) summary
      cl12078
      Location:65 → 510
      p450; Cytochrome P450

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      65011997..65224254 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361536.1 → XP_054217511.1  cytochrome P450 7B1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75881.2 GenPept UniProtKB/Swiss-Prot:O75881

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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