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CYP7B1 Gene

protein-coding   GIFtS: 61
GCID: GC08M065500

Cytochrome P450, Family 7, Subfamily B, Polypeptide 1

(Previous names: cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase),...)
(Previous symbol: SPG5A)
  See CYP7B1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 7, Subfamily B, Polypeptide 11 2     Spastic Paraplegia 5A (Autosomal Recessive)1
SPG5A1 2 5     25-Hydroxycholesterol 7-Alpha-Hydroxylase2
Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase),
Polypeptide 11 2
     CP7B2
Cytochrome P450 7B12 3     Oxysterol 7alpha-Hydroxylase2
Oxysterol 7-Alpha-Hydroxylase2 3     EC 1.14.13.1003
CBAS32 5     

External Ids:    HGNC: 26521   Entrez Gene: 94202   Ensembl: ENSG000001728177   OMIM: 6037115   UniProtKB: O758813   

Export aliases for CYP7B1 gene to outside databases

Previous GC identifers: GC08M064752 GC08M065448 GC08M065223 GC08M065558 GC08M065671 GC08M060998


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP7B1 Gene:
CYP7B1 (cytochrome P450, family 7, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP7B1 include bile acid synthesis defect, congenital, 3, and spastic paraplegia 5a. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP39A1.

Gene Wiki entry for CYP7B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CYP7B1 gene promoter:
         STAT1   Tal-1   Tal-1beta   E47   Evi-1   PPAR-gamma1   POU2F1   POU2F1a   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP7B1 promoter sequence
   Search Chromatin IP Primers for CYP7B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP7B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.3   Ensembl cytogenetic band:  8q12.3   HGNC cytogenetic band: 8q21.3

CYP7B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP7B1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M065500:  view genomic region     (about GC identifiers)

Start:
65,500,320 bp from pter      End:
65,711,348 bp from pter
Size:
211,029 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881 (See protein sequence)
Recommended Name: 25-hydroxycholesterol 7-alpha-hydroxylase  
Size: 506 amino acids; 58256 Da
Cofactor: Heme group (By similarity)
Secondary accessions: B2RN07 Q9UNF5

Explore the universe of human proteins at neXtProt for CYP7B1: NX_O75881

Explore proteomics data for CYP7B1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys218, Lys256
  • Modification sites at PhosphoSitePlus

  • See CYP7B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004811.1  
    ENSEMBL proteins: 
     ENSP00000310721  
    Reactome Protein details: O75881

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP7B1
    CYP5, CYP7 and CYP8 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR002403 Cyt_P450_E_grp-IV
     IPR024204 Cyt_P450_CYP7A1-type

    Graphical View of Domain Structure for InterPro Entry O75881

    ProtoNet protein and cluster: O75881

    1 Blocks protein domain: IPB002403 E-class P450 group IV signature

    UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP7B1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP7B1_HUMAN, O75881
    Catalytic activity: Cholest-5-ene-3-beta,25-diol + NADPH + O(2) = cholest-5-ene-3-beta,7-alpha,25-triol + NADP(+)
    + H(2)O
    Catalytic activity: (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

         Genatlas biochemistry entry for CYP7B1:
    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

         Enzyme Number (IUBMB): EC 1.14.13.1001

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008396oxysterol 7-alpha-hydroxylase activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IEA--
    GO:003378325-hydroxycholesterol 7alpha-hydroxylase activity IEA--
         
    Find genes that share ontologies with CYP7B1           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cyp7b1):
     endocrine/exocrine gland  hematopoietic system  homeostasis/metabolism  immune system  integument 
     reproductive system 

    Find genes that share phenotypes with CYP7B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cyp7b1tm1Rus for CYP7B1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP7B1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CYP7B1

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    miRNA
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    miRTarBase miRNAs that target CYP7B1:
    hsa-mir-335-5p (MIRT018771)

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    3 qRT-PCR Assays for microRNAs that regulate CYP7B1:
    hsa-miR-656 hsa-miR-758 hsa-miR-151-3p
    SwitchGear 3'UTR luciferase reporter plasmidCYP7B1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP7B1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP7B1_HUMAN, O75881: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    cytosol1
    extracellular1
    lysosome1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    Find genes that share ontologies with CYP7B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP7B1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    Primary bile acid biosynthesis0.00
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    Bile acid and bile salt metabolism0.73
    2Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    5Tryptophan metabolism
    Tryptophan metabolism0.46


    Find genes that share SuperPaths with CYP7B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CYP7B1
        cytochrome P450
    metapathway biotransformation
    Tryptophan metabolism


    4 Reactome Pathways for CYP7B1
        Endogenous sterols
    Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol


    2 Kegg Pathways  (Kegg details for CYP7B1):
        Primary bile acid biosynthesis
    Steroid hormone biosynthesis

    UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881
    Pathway: Lipid metabolism; bile acid biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP7B1: 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP7B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYP7B1 (ENSP000003107214) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP11A1ENSP000002680534STRING: ENSP00000268053
    CYP17A1ENSP000003589034STRING: ENSP00000358903
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    ENSG00000232414ENSP000004165984STRING: ENSP00000416598
    STSENSP000002179614STRING: ENSP00000217961
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008203cholesterol metabolic process IEA--
    GO:0008206bile acid metabolic process TAS--
    GO:0008219cell death IEA--

    Find genes that share ontologies with CYP7B1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP7B1 (CP7B1)

    Selected HMDB Compounds for CYP7B1 (see all 13)    About this table
    CompoundSynonyms CAS #PubMed Ids
    7a-Hydroxydehydroepiandrosterone7a-Hydroxydehydroisoandrosterone (see all 9)53-00-917467270
    25-Hydroxycholesterol(beta)-cholest-5-ene-3-25-diol (see all 8)2140-46-7--
    3 beta,7 alpha-Dihydroxy-5-cholestenoate3 beta,7 alpha-Dihydroxy-5-cholesten-26-oic acid (see all 8)115538-84-6--
    3 beta-Hydroxy-5-cholestenoate3 beta-Hydroxycholest-5-en-27-oic acid (see all 13)6561-58-6--
    7-a,25-Dihydroxycholesterol7alpha,25-Dihydroxycholesterol (see all 7)64907-22-8--
    7-a,27-dihydroxycholesterol5-Cholestene-3beta,7alpha,26-triol (see all 10)4725-24-0--
    Cholest-5-ene5-Cholestene (see all 3)570-74-1--
    Epiandrosterone3-Epiandrosterone (see all 16)481-29-8--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    9 Novoseek inferred chemical compound relationships for CYP7B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5alpha-androstane-3alpha,17beta-diol 86.2 3 18331353 (1), 17825335 (1), 16630558 (1)
    27-hydroxycholesterol 85 1 11971943 (1)
    25-hydroxycholesterol 73.6 2 11284740 (2)
    dhea 72.8 14 16720094 (3), 11284740 (2), 18331353 (1), 17467270 (1) (see all 6)
    steroid 50.4 1 10588945 (1)
    estrogen 47.3 14 18331353 (3), 18790053 (2), 16720094 (2), 16630558 (1)
    cholesterol 46.5 11 18252231 (2), 10588945 (1), 18779653 (1), 7925343 (1) (see all 7)
    sterol 34.7 2 15003524 (2)
    testosterone 34 2 17825335 (1), 16630558 (1)



    Find genes that share compounds with CYP7B1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP7B1 gene: 
    NM_004820.3  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523954 ENST00000310193(uc003xvj.2)
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP7B1
      QuantiFast Probe-based Assays in human, mouse, rat CYP7B1

    16 AceView cDNA sequences:

    AI400399 AF029403 BP349825 BC029155 BM729103 CA312194 BG899005 AI202593 
    AF127090 BI759047 NM_004820 BP348932 BU608658 AL707985 BE815661 AW299315 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP7B1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACCCTGA
    CYP7B1 Expression
    About this image


    CYP7B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Ureteric Bud Tip Cells Ureteric Bud
             Metanephros
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Liver (Hepatobiliary System)
             Hematopoietic Stem Cells Liver Bud
     
     Blood (Cardiovascular System)
             Hematopoietic Stem Cells Liver Bud
     
     Brain (Nervous System)
             Medulla Oblongata
    CYP7B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP7B1 Protein Expression

    UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881
    Tissue specificity: Brain, testis, ovary, prostate, liver, colon, kidney, and small intestine

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP7B1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for CYP7B1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp7b11 , 5 cytochrome P450, family 7, subfamily b, polypeptide more1, 5 76.88(n)1
    67.23(a)1
      3 (4.98 cM)5
    131231  NM_007825.41  NP_031851.31 
     180719505 
    chicken
    (Gallus gallus)
    Aves CYP7B11 cytochrome P450, family 7, subfamily B, polypeptide more 65.81(n)
    53.76(a)
      420164  XM_418276.4  XP_418276.4 
    lizard
    (Anolis carolinensis)
    Reptilia CYP7B16
    cytochrome P450, family 7, subfamily B, polypeptid...
    47(a)
    1 ↔ 1
    4(30042197-30149786)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyp7b11 cytochrome P450, family 7, subfamily B, polypeptide more 63.11(n)
    52.99(a)
      100145642  NM_001127039.1  NP_001120511.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5704551 25-hydroxycholesterol 7-alpha-hydroxylase-like 53.28(n)
    43.84(a)
      570455  XM_693936.5  XP_699028.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP7B1 gene
    CYP39A12  PTGIS2  CYP7A12  CYP8B12  
    5 SIMAP similar genes for CYP7B1 using alignment to 2 protein entries:     CP7B1_HUMAN (see all proteins):
    CYP7A1    CYP8B1    PGIS    PTGIS    CYP39A1

    Find genes that share paralogs with CYP7B1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP7B1 (see all 3400)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0443824
    Spastic paraplegia 5A, autosomal recessive (SPG5A)4--see VAR_0443822 G R mis40--------
    VAR_0443844
    Spastic paraplegia 5A, autosomal recessive (SPG5A)4--see VAR_0443842 S F mis40--------
    VAR_0443834
    Spastic paraplegia 5A, autosomal recessive (SPG5A)4--see VAR_0443832 F S mis40--------
    VAR_0443854
    Spastic paraplegia 5A, autosomal recessive (SPG5A)4--see VAR_0443852 R H mis40--------
    rs1161712741,2
    C,Fpathogenic165608484(+) CAAGCG/AGCTGT 2 /R /C mis12Minor allele frequency- A:0.00NA 4558
    rs1219086111,2
    Cpathogenic165608690(-) TGATCA/GTTTTA 2 H R mis10--------
    rs725546201,2
    Cpathogenic165616530(-) GTGTGC/TGAAAG 2 R * stg10--------
    rs1219086131,2
    Cpathogenic165627493(-) TATTAT/AGTGCA 2 /* /Y stg11Minor allele frequency- A:0.00NA 4536
    rs777339041,2
    F--61048036(+) ATTTGG/AGTTGG 1 -- int11Minor allele frequency- A:0.50NA 4
    rs773029811,2
    F--61048122(+) TAGTCA/CTTTGG 1 -- int11Minor allele frequency- C:0.33NA 6

    HapMap Linkage Disequilibrium report for CYP7B1 (65500320 - 65711348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CYP7B1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1348104CNV Deletion17803354
    esv1348944CNV Deletion17803354
    nsv6231CNV Loss18451855

    Human Gene Mutation Database (HGMD): CYP7B1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP7B1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP7B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603711   
    OMIM disorders: 613812  270800  
    UniProtKB/Swiss-Prot: CP7B1_HUMAN, O75881
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for CYP7B1:    
    About MalaCards
    bile acid synthesis defect, congenital, 3    spastic paraplegia 5a    spastic paraplegia 5a, autosomal recessive    breast-ovarian cancer, familial, 1
    atherosclerosis

    1 disease from the University of Copenhagen DISEASES database for CYP7B1:
    Paraplegia

    Find genes that share disorders with CYP7B1           About GenesLikeMe

    2 Novoseek inferred disease relationships for CYP7B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    prostate cancer 15.7 6 17639508 (2), 15007371 (1), 16630558 (1)
    tumors 0 3 17639508 (1)

    Genatlas disease: CYP7B1
    severe cholestasis with neonatal cirrhosis and liver synthetic failure with extremely high levels of
    27-hydroxycholesterol

    Genetic Association Database (GAD): CYP7B1
    Human Genome Epidemiology (HuGE) Navigator: CYP7B1 (10 documents)

    Export disorders for CYP7B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP7B1 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with CYP7B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. (PubMed id 18252231)1, 2, 3, 9 Tsaousidou M.K.... Crosby A.H. (Am. J. Hum. Genet. 2008)
    2. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7-alpha-hydroxylase gene causes severe neonatal liver disease. (PubMed id 9802883)1, 2, 3 Setchell K.D.R.... Russell D.W. (J. Clin. Invest. 1998)
    3. Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1. (PubMed id 10588945)1, 2, 9 Wu Z.L.... Chiang J.Y.L. (J. Lipid Res. 1999)
    4. A functional C-G polymorphism in the CYP7B1 promoter region and its different distribution in Orientals and Caucasians. (PubMed id 15007371)1, 4, 9 Jakobsson J....EkstrAPm L. (Pharmacogenomics J. 2004)
    5. Dehydroepiandrosterone 7alpha-hydroxylation in human tissues: possible interference with type 1 11beta-hydroxysteroid dehydrogenase-mediated processes. (PubMed id 17467270)1, 6, 9 Hennebert O....Morfin R. (J. Steroid Biochem. Mol. Biol. 2007)
    6. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PubMed id 22174851)1, 4 Lingappa J.R....Goldstein D. (PLoS ONE 2011)
    7. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9420 HGNC: 2652 AceView: CYP7B1 Ensembl:ENSG00000172817 euGenes: HUgn9420
    ECgene: CYP7B1 Kegg: 9420 H-InvDB: CYP7B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CYP7B1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP7B1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP7B1 gene:
    Search GeneIP for patents involving CYP7B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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