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CYP7A1 Gene

protein-coding   GIFtS: 63
GCID: GC08M059452

Cytochrome P450, Family 7, Subfamily A, Polypeptide 1

(Previous names: cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase),...)
(Previous symbol: CYP7)
  See 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 A, Polypeptide 11 2     Cholesterol 7 Alpha-Monooxygenase1
CYP71 2 3 5     Cytochrome P450, Subfamily VIIA (Cholesterol 7 Alpha-Monooxygenase),
Polypeptide 11
Cholesterol 7-Alpha-Hydroxylase2 3     CP7A2
Cytochrome P450 7A12 3     Cholesterol 7-Alpha-Monooxygenase2
CYPVII2 3     Cytochrome P450, Subfamily VIIA Polypeptide 12
EC 1.14.13.173 8     EC 1.14.138

External Ids:    HGNC: 26511   Entrez Gene: 15812   Ensembl: ENSG000001679107   OMIM: 1184555   UniProtKB: P226803   

Export aliases for CYP7A1 gene to outside databases

Previous GC identifers: GC08M058476 GC08M059342 GC08M059125 GC08M059565 GC08M054889


(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 CYP7A1 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 in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step
and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of
cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid
synthesis. (provided by RefSeq, Feb 2010)

GeneCards Summary for CYP7A1 Gene:
CYP7A1 (cytochrome P450, family 7, subfamily A, polypeptide 1) is a protein-coding gene. Diseases associated with CYP7A1 include extrahepatic cholestasis, and hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP39A1.

UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680
Function: Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a
hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis

Gene Wiki entry for CYP7A1 (Cholesterol 7 alpha-hydroxylase) 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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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_008183.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP7A1 gene promoter:
         COUP-TF1   FAC1   COUP-TF   COUP   HNF-4alpha2   RSRFC4   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYP7A1 promoter sequence
   Search Chromatin IP Primers for CYP7A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP7A1


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

Entrez Gene cytogenetic band: 8q11-q12   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q11-q12

CYP7A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP7A1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M059452:  view genomic region     (about GC identifiers)

Start:
59,402,737 bp from pter      End:
59,412,795 bp from pter
Size:
10,059 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: CP7A1_HUMAN, P22680 (See protein sequence)
Recommended Name: Cholesterol 7-alpha-monooxygenase  
Size: 504 amino acids; 57661 Da
Cofactor: Heme group
3 PDB 3D structures from and Proteopedia for CYP7A1:
3DAX (3D)        3SN5 (3D)        3V8D (3D)    
Secondary accessions: P78454 Q3MIL8 Q7KZ19

Explore the universe of human proteins at neXtProt for CYP7A1: NX_P22680

Explore proteomics data for CYP7A1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYP7A1 (P22680) (see all 8)
     YVHFITN  FLNDTLST  FLRANQRK  DGNTTENIN 


    See CYP7A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000771.2  
    ENSEMBL proteins: 
     ENSP00000301645  
    Reactome Protein details: P22680

    CYP7A1 Human Recombinant Protein Products:

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    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for CYP7A1
    Cloud-Clone Corp. CLIAs for CYP7A1


    (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: CYP7A1
    CYP5, CYP7 and CYP8 families

    4 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002403 Cyt_P450_E_grp-IV
     IPR024204 Cyt_P450_CYP7A1-type

    Graphical View of Domain Structure for InterPro Entry P22680

    ProtoNet protein and cluster: P22680

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

    UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680
    Similarity: Belongs to the cytochrome P450 family


    CYP7A1 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP7A1_HUMAN, P22680
    Function: Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a
    hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis
    Catalytic activity: Cholesterol + NADPH + O(2) = 7-alpha-hydroxycholesterol + NADP(+) + H(2)O
    Induction: Up-regulated by glucose and by cholestyramine. Down-regulated by chenodeoxycholic acid

         Genatlas biochemistry entry for CYP7A1:
    cytochrome P450,subfamily VIIA,polypeptide 1,cholesterol 7 alpha-hydroxylase (monooxygenase) liver
    specific,microsomal,catalyzing the first step of bile synthesis,with an insertion in the promoter containing a
    cyclophilin A processed pseudogene

         Enzyme Numbers (IUBMB): EC 1.14.13.171 2 EC 1.14.132

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005506iron ion binding IEA--
    GO:0008123cholesterol 7-alpha-monooxygenase activity ISS--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
    GO:0020037heme binding IEA--
         
    CYP7A1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyp7a1):
     behavior/neurological  digestive/alimentary  growth/size/body  homeostasis/metabolism  integument 
     liver/biliary system  mortality/aging  vision/eye 

    CYP7A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyp7a1tm1Rus for CYP7A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP7A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYP7A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYP7A1

    miRNA
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    miRTarBase miRNAs that target CYP7A1:
    hsa-mir-92a-3p (MIRT048926), hsa-mir-335-5p (MIRT018408), hsa-mir-422a (MIRT000469), hsa-mir-122-5p (MIRT000012)

    Block miRNA regulation of human, mouse, rat CYP7A1 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate CYP7A1:
    hsa-miR-875-3p hsa-miR-222 hsa-miR-3148 hsa-miR-192* hsa-miR-221 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidCYP7A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CYP7A1

    Gene Editing
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    In Situ Assay
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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
    CP7A1_HUMAN, P22680: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus3
    extracellular2
    peroxisome2
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0043231intracellular membrane-bounded organelle ISS--

    CYP7A1 for ontologies           About GeneDecksing


    (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 CYP7A1 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    bile acid biosynthesis, neutral pathway0.48
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Primary bile acid biosynthesis0.00
    Bile acid and bile salt metabolism0.73
    Synthesis of bile acids and bile salts via 27-hydroxycholesterol0.00
    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
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    5Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for CYP7A1 (see all 6)
        cytochrome P450
    Statin Pathway
    Nuclear receptors in lipid metabolism and toxicity
    bile acid biosynthesis, neutral pathway
    Drug Induction of Bile Acid Pathway

    5 Reactome Pathways for CYP7A1
        Endogenous sterols
    PPARA activates gene expression
    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

    1 PharmGKB Pathway for CYP7A1
        Statin Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for CYP7A1):
        Primary bile acid biosynthesis
    Steroid hormone biosynthesis
    Metabolic pathways
    PPAR signaling pathway
    Bile secretion

    UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680
    Pathway: Lipid metabolism; bile acid biosynthesis


    CYP7A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP7A1 (see all 6): 

              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP7A1

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

    Selected Interacting proteins for CYP7A1 (ENSP000003016454) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CARM1ENSP000003256904STRING: ENSP00000325690
    CREBBPENSP000002623674STRING: ENSP00000262367
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP27A1ENSP000002584154STRING: ENSP00000258415
    CYP3A4ENSP000003379154STRING: ENSP00000337915
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006699bile acid biosynthetic process TAS--
    GO:0006707cholesterol catabolic process ISS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008206bile acid metabolic process TAS--
    GO:0016125sterol metabolic process TAS--

    CYP7A1 for ontologies           About GeneDecksing



    (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 CYP7A1 (CP7A1)

    8 HMDB Compounds for CYP7A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Taurocholic acid3a,7a,12a-Trihydroxy-5b-cholanic acid-24-taurine (see all 7)81-24-38457195
    7a-Hydroxycholesterol7alpha-Hydroxycholesterol (see all 5)----
    Cholesterol(+)-ent-Cholesterol (see all 39)57-88-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Selected Novoseek inferred chemical compound relationships for CYP7A1 gene (see all 51)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    7alpha-hydroxy-4-cholesten-3-one 91.7 17 2060639 (3), 8574339 (2), 15576845 (1), 9178027 (1) (see all 10)
    7beta-hydroxycholesterol 87.7 23 8542924 (5), 8574339 (4), 2090715 (3), 8491805 (1) (see all 12)
    chenodeoxycholic acid 86 12 11402042 (2), 12509506 (1), 16271991 (1), 1749214 (1) (see all 9)
    27-hydroxycholesterol 83.3 10 8496664 (2), 7925343 (2), 8808770 (1), 10882719 (1) (see all 6)
    cholesterol 82.7 350 19815588 (5), 11557507 (5), 14762172 (5), 11788471 (4) (see all 99)
    cholestyramine 80.9 18 7882995 (2), 15796896 (2), 1464742 (2), 2090716 (2) (see all 10)
    7alpha-hydroxy-3-oxo-4-cholestenoic acid 80.7 1 2214780 (1)
    lathosterol 80.5 3 9615912 (1), 18077921 (1)
    sterol 77 15 9460081 (4), 8001744 (2), 11323427 (1), 7852865 (1) (see all 10)
    cholic acid 76.5 11 16271991 (2), 2280674 (2), 11136553 (1), 2214780 (1) (see all 7)



    CYP7A1 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYP7A1 gene: 
    NM_000780.3  

    Unigene Cluster for CYP7A1:

    Cytochrome P450, family 7, subfamily A, polypeptide 1
    Hs.1644  [show with all ESTs]
    Unigene Representative Sequence: M93133
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000301645(uc003xtm.4)
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidCYP7A1 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP7A1
      QuantiFast Probe-based Assays in human, mouse, rat CYP7A1

    Additional mRNA sequence: 

    BC101777.1 BC112184.1 M93133.1 X56088.1 

    4 DOTS entries:

    DT.204255  DT.91757401  DT.91757402  DT.91757403 

    13 AceView cDNA sequences:

    AV687249 NM_000780 X56088 M93133 AV686267 AV698976 AV682389 AV690202 
    AV686629 AV688429 AV682932 AV689274 AV688749 

    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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    CYP7A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP7A1 Expression
    About this image


    CYP7A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 3 entries
             Mature Hepatocytes Liver Lobule
             Hepatocyte-like cells
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
    CYP7A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP7A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1644

    UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680
    Tissue specificity: Detected in liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CYP7A1 (see all 6): 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              PPAR Targets in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP7A1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CYP7A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp7a11 , 5 cytochrome P450, family 7, subfamily a, polypeptide more1, 5 82.97(n)1
    81.71(a)1
      4 (2.91 cM)5
    131221  NM_007824.21  NP_031850.21 
     62656125 
    chicken
    (Gallus gallus)
    Aves CYP7A11 cytochrome P450, family 7, subfamily A, polypeptide more 70.97(n)
    66.87(a)
      414834  NM_001001753.1  NP_001001753.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP7A16
    cytochrome P450, family 7, subfamily A, polypeptid...
    65(a)
    1 ↔ 1
    4(27619625-27627137)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004886701 cholesterol 7-alpha-monooxygenase-like 68.39(n)
    65.74(a)
      100488670  XM_002936108.2  XP_002936154.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc639202 similar to cytochrome P450, family 7, subfamily A, more 75.34(n)   394148  BC054571.1 


    ENSEMBL Gene Tree for CYP7A1 (if available)
    TreeFam Gene Tree for CYP7A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP7A1 gene
    CYP39A12  PTGIS2  CYP7B12  CYP8B12  
    4 SIMAP similar genes for CYP7A1 using alignment to 1 protein entry:     CP7A1_HUMAN:
    CYP7B1    CYP8B1    PGIS    PTGIS

    CYP7A1 for paralogs           About GeneDecksing



    (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 CYP7A1 (see all 288)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134269281,2
    C,F--59407776(+) TATTTC/TTATTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs100947661,2
    C,F,H--59499769(+) TATGAG/TTATTT 1 -- ds50015Minor allele frequency- T:0.06NS EA WA 532
    rs70183331,2
    C,A--59500020(+) TGGTGG/ACACGT 1 -- ds50015Minor allele frequency- A:0.00NA WA CSA 8
    rs1442610671,2
    C--59500152(+) TTCTC-/TAAA  
            
    TAAAT
    1 -- ds50010--------
    rs1468552391,2
    --59500325(+) TGACAC/TAGAGC 1 -- ut310--------
    rs1932377671,2
    --59500375(+) GTACAC/TAGCAT 1 -- ut310--------
    rs1846862881,2
    --59500421(+) CAAGTC/TATTTA 1 -- ut310--------
    rs1890572531,2
    --59500558(+) GCTACA/CTTTTT 1 -- ut310--------
    rs1814488151,2
    --59500624(+) GAAAAC/GTCTTC 1 -- ut310--------
    rs1857453741,2
    --59500631(+) CTTCTC/TATTAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CYP7A1 (59402737 - 59412795 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CYP7A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv994118CNV Deletion20482838
    nsv890938CNV Gain21882294

    Human Gene Mutation Database (HGMD): CYP7A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP7A1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP7A1

    (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: 118455    OMIM disorders: --

    Selected diseases for CYP7A1 (see all 35):    
    About MalaCards
    extrahepatic cholestasis    hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency    cerebrotendinous xanthomatosis    sitosterolemia
    congenital bile acid synthesis defect    neuromyelitis optica    xanthomatosis    hyperthyroidism
    hypercholesterolemia    gallbladder cancer    hepatoblastoma    familial hypercholesterolemia
    hypertriglyceridemia    cholelithiasis    asperger syndrome    cholestasis
    sleep apnea    thrombophilia    hypothyroidism    atherosclerosis

    5 diseases from the University of Copenhagen DISEASES database for CYP7A1:
    Cholestasis     Xanthomatosis     Congenital bile acid synthesis defect     Atherosclerosis
    Cholelithiasis

    CYP7A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CYP7A1 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sitosterolemia 71.9 2 15030301 (1), 9460081 (1)
    cholestasis 57 2 17920062 (1), 9437703 (1)
    hypercholesterolemia 48.8 6 9460081 (1), 11179691 (1), 17341815 (1), 12202481 (1) (see all 5)
    malabsorption 35.9 2 20233723 (1), 18728290 (1)
    atherosclerosis 34.9 9 11788471 (3), 9460081 (1), 9526678 (1), 18728290 (1) (see all 6)
    hepatoblastoma 29.3 2 14960721 (1), 18264589 (1)
    dyslipidemia 24.3 1 19463968 (1)
    hypercholesterolemia familial 13.1 1 15530918 (1)
    hypertriglyceridemia 10.1 2 15241483 (1), 16709249 (1)
    response acute phase 4.71 2 17359490 (2)

    Genetic Association Database (GAD): CYP7A1
    Human Genome Epidemiology (HuGE) Navigator: CYP7A1 (46 documents)

    Export disorders for CYP7A1 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 CYP7A1 gene, integrated from 10 sources (see all 314):
    (articles sorted by number of sources associating them with CYP7A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CYP7A1 promoter polymorphism -203A&gt;C affects bile salt synthesis rate in patients after ileal resection. (PubMed id 18728290)1, 4, 9 LenA-cek M....VA-tek L. (J. Lipid Res. 2008)
    2. Interactions between common genetic polymorphisms in ABCG5/G8 and CYP7A1 on LDL cholesterol-lowering response to atorvastatin. (PubMed id 15262185)1, 4, 9 Kajinami K....Schaefer E.J. (Atherosclerosis 2004)
    3. CYP7A1 (-204 A&gt;C; rs3808607 and -469 T&gt;C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population. (PubMed id 20005541)1, 4, 9 Srivastava A....Mittal B. (Metab. Clin. Exp. 2010)
    4. Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes. (PubMed id 19965590)1, 2, 9 Li T.... Chiang J.Y. (J. Lipid Res. 2010)
    5. Role of genetic variant A-204C of cholesterol 7alpha-hydroxylase (CYP7A1) in susceptibility to gallbladder cancer. (PubMed id 18178499)1, 4, 9 Srivastava A....Mittal B. (Mol. Genet. Metab. 2008)
    6. Structure and nucleotide sequences of the human cholesterol 7 alpha- hydroxylase gene (CYP7). (PubMed id 8020987)1, 2, 9 Wang D.P. and Chiang J.Y. (Genomics 1994)
    7. Feedback regulation of bile acid synthesis in human liver: importance of HNF-4alpha for regulation of CYP7A1. (PubMed id 15796896)1, 2, 9 Abrahamsson A.... Einarsson C. (Biochem. Biophys. Res. Commun. 2005)
    8. CYP7A1 A-278C polymorphism affects the response of plasma lipids after dietary cholesterol or cafestol interventions in humans. (PubMed id 15333704)1, 4, 9 Hofman M.K....Princen H.M. (J. Nutr. 2004)
    9. Transcriptional regulation of the human cholesterol 7 alpha- hydroxylase gene. (PubMed id 1312351)1, 2, 9 Molowa D.T.... Tan C.P. (Biochemistry 1992)
    10. Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12. (PubMed id 1358792)1, 3, 9 Cohen J.C....Hobbs H.H. (Genomics 1992)

    (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: 1581 HGNC: 2651 AceView: CYP7A1 Ensembl:ENSG00000167910 euGenes: HUgn1581
    ECgene: CYP7A1 Kegg: 1581 H-InvDB: CYP7A1

    (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 CYP7A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP7A1 Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Cholesterol_7_alpha-hydroxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP7A1 gene:
    Search GeneIP for patents involving CYP7A1

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



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