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 chol... See more...

Aliases for CYP7A1 Gene

Aliases for CYP7A1 Gene

  • Cytochrome P450 Family 7 Subfamily A Member 1 2 3 5
  • Cytochrome P450, Family 7, Subfamily A, Polypeptide 1 2 3
  • 24-Hydroxycholesterol 7-Alpha-Hydroxylase 3 4
  • Cholesterol 7-Alpha-Monooxygenase 3 4
  • Cholesterol 7-Alpha-Hydroxylase 3 4
  • Cytochrome P450 7A1 3 4
  • CYPVII 3 4
  • CYP7 3 4
  • Cytochrome P450, Subfamily VIIA (Cholesterol 7 Alpha-Monooxygenase), Polypeptide 1 2
  • Cytochrome P450, Subfamily VIIA Polypeptide 1 3
  • Cholesterol 7 Alpha-Monooxygenase 2
  • Cholesterol 7alpha-Hydroxylase 3
  • Cholesterol 7α-Hydroxylase 2
  • EC 1.14.13.17 50
  • EC 1.14.14.26 4
  • EC 1.14.14.23 4
  • EC 1.14.13 50
  • CYP7A1 5
  • CP7A 3

External Ids for CYP7A1 Gene

Previous HGNC Symbols for CYP7A1 Gene

  • CYP7

Previous GeneCards Identifiers for CYP7A1 Gene

  • GC08M059342
  • GC08M059125
  • GC08M059452
  • GC08M059565
  • GC08M054889

Summaries for CYP7A1 Gene

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 Member 1) is a Protein Coding gene. Diseases associated with CYP7A1 include Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency and Sitosterolemia. Among its related pathways are Statin Pathway and Farnesoid X Receptor Pathway. Gene Ontology (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 CYP7B1.

UniProtKB/Swiss-Prot Summary for CYP7A1 Gene

  • A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:2384150, PubMed:21813643). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:2384150, PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (PubMed:12077124, PubMed:19965590, PubMed:2384150). 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (PubMed:11013305, PubMed:12077124). Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives (PubMed:21813643).

Gene Wiki entry for CYP7A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP7A1 Gene

Genomics for CYP7A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP7A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J058500 Promoter 0.9 EPDnew 250.7 0.0 -20 0.1 CEBPA ATF3 CHD4 YY1 FOXA2 RXRA MIER3 ZBTB33 FOXP1 BCL6 CYP7A1 LOC110596867 SDCBP RF00017-6515
GH08J058470 Enhancer 0.9 ENCODE 12.9 +28.9 28887 1.3 CEBPA CHD4 MXD4 FOXA1 HOMEZ THAP11 FOXA2 KDM6A SMAD4 RXRA CYP7A1 SDCBP piR-41245-274 UBXN2B RF00017-6515
GH08J058073 Enhancer 0.7 dbSUPER 4.7 +425.9 425874 1.3 ZNF654 REST FEZF1 HOMEZ CTCF SMC3 MIER3 TEAD3 RAD21 PRDM6 FAM110B CYP7A1 MN298114-255 ENSG00000253116 lnc-FAM110B-1 UBXN2B
GH08J058469 Enhancer 0.2 Ensembl 12 +30.6 30562 0.4 UBXN2B CYP7A1 piR-41245-274 RF00017-6515
GH08J058453 Enhancer 0.3 Ensembl 4.7 +46.7 46662 0.6 NFIC NANOG HSALNG0065562 piR-56133-219 CYP7A1 piR-54987-133 UBXN2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP7A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP7A1

Top Transcription factor binding sites by QIAGEN in the CYP7A1 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • FAC1
  • HNF-4alpha1
  • HNF-4alpha2
  • RSRFC4

Genomic Locations for CYP7A1 Gene

Latest Assembly
chr8:58,490,178-58,500,163
(GRCh38/hg38)
Size:
9,986 bases
Orientation:
Minus strand

Previous Assembly
chr8:59,402,737-59,412,722
(GRCh37/hg19 by Entrez Gene)
Size:
9,986 bases
Orientation:
Minus strand

chr8:59,402,737-59,412,795
(GRCh37/hg19 by Ensembl)
Size:
10,059 bases
Orientation:
Minus strand

Genomic View for CYP7A1 Gene

Genes around CYP7A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP7A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP7A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP7A1 Gene

Proteins for CYP7A1 Gene

  • Protein details for CYP7A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22680-CP7A1_HUMAN
    Recommended name:
    Cytochrome P450 7A1
    Protein Accession:
    P22680
    Secondary Accessions:
    • P78454
    • Q3MIL8
    • Q7KZ19

    Protein attributes for CYP7A1 Gene

    Size:
    504 amino acids
    Molecular mass:
    57661 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP7A1 Gene

neXtProt entry for CYP7A1 Gene

Selected DME Specific Peptides for CYP7A1 Gene

P22680:
  • DGNTTENIN
  • FLRANQRK
  • HLDPEIYPDP
  • YVHFITN
  • FLNDTLST
  • LWASQANTIPATFW
  • SAKAFGHRSIDP
  • LSYHKVLCHGKY

Post-translational modifications for CYP7A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP7A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP7A1 Gene

Gene Families for CYP7A1 Gene

Protein Domains for CYP7A1 Gene

Suggested Antigen Peptide Sequences for CYP7A1 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome P450 7A1 (CP7A1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22680

UniProtKB/Swiss-Prot:

CP7A1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP7A1: view

Function for CYP7A1 Gene

Molecular function for CYP7A1 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols) (PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:2384150, PubMed:21813643). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:2384150, PubMed:11013305, PubMed:12077124, PubMed:19965590, PubMed:21813643). Functions as a critical regulatory enzyme of bile acid biosynthesis and cholesterol homeostasis. Catalyzes the hydroxylation of carbon hydrogen bond at 7-alpha position of cholesterol, a rate-limiting step in cholesterol catabolism and bile acid biosynthesis (PubMed:12077124, PubMed:19965590, PubMed:2384150). 7-alpha hydroxylates several oxysterols, including 4beta-hydroxycholesterol and 24-hydroxycholesterol (PubMed:11013305, PubMed:12077124). Catalyzes the oxidation of the 7,8 double bond of 7-dehydrocholesterol and lathosterol with direct and predominant formation of the 7-keto derivatives (PubMed:21813643).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 7alpha-hydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:21812, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16113, ChEBI:CHEBI:17500, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.23; Evidence={ECO:0000269|PubMed:11013305, ECO:0000269|PubMed:12077124, ECO:0000269|PubMed:2384150};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4beta-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 4beta,7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46120, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:85778, ChEBI:CHEBI:85779; Evidence={ECO:0000269|PubMed:12077124};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-7-en-3beta-ol + O2 + reduced [NADPH--hemoprotein reductase] = 7alpha,8alpha-epoxy-5alpha-cholestan-3beta-ol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53256, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17168, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137063; Evidence={ECO:0000269|PubMed:21813643};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5alpha-cholest-7-en-3beta-ol + O2 + reduced [NADPH--hemoprotein reductase] = 5alpha-cholestan-7-oxo-3beta-ol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53252, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17168, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137062; Evidence={ECO:0000269|PubMed:21813643};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesta-5,7-dien-3beta-ol + O2 + reduced [NADPH--hemoprotein reductase] = 3beta-hydroxycholest-5-en-7-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53248, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17759, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:64294; Evidence={ECO:0000269|PubMed:21813643};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24S)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46124, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:34310, ChEBI:CHEBI:37640, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.26; Evidence={ECO:0000269|PubMed:11013305};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24R)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24R)-7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:16093, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:50516, ChEBI:CHEBI:50518, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence={ECO:0000269|PubMed:11013305};.
UniProtKB/Swiss-Prot Induction:
Up-regulated by glucose and by cholestyramine. Down-regulated by chenodeoxycholic acid.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3 uM for cholesterol {ECO:0000269|PubMed:11013305}; KM=6 uM for 24-hydroxycholesterol {ECO:0000269|PubMed:11013305}; KM=1.8 uM for 5alpha-cholest-7-en-3beta-ol (lathosterol) {ECO:0000269|PubMed:21813643}; KM=1.1 uM for cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol) {ECO:0000269|PubMed:21813643}; Vmax=0.184 nmol/min/nmol enzyme toward cholesterol {ECO:0000269|PubMed:12077124}; Vmax=0.087 nmol/min/nmol enzyme toward 4beta-hydroxycholesterol {ECO:0000269|PubMed:12077124}; Note=kcat is 3.7 min(-1) with 5alpha-cholest-7-en-3beta-ol (lathosterol) as substrate. kcat is 2.2 min(-1) with cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol) as substrate. {ECO:0000269|PubMed:21813643};
GENATLAS Biochemistry:
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) for CYP7A1 Gene

Phenotypes From GWAS Catalog for CYP7A1 Gene

Gene Ontology (GO) - Molecular Function for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0008123 cholesterol 7-alpha-monooxygenase activity IBA,ISS --
GO:0008395 steroid hydroxylase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP7A1: view
genes like me logo Genes that share phenotypes with CYP7A1: view

Human Phenotype Ontology for CYP7A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP7A1 Gene

MGI Knock Outs for CYP7A1:

miRNA for CYP7A1 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP7A1

No data available for Transcription Factor Targets and HOMER Transcription for CYP7A1 Gene

Localization for CYP7A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP7A1 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein. Microsome membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP7A1 gene
Compartment Confidence
extracellular 3
mitochondrion 3
peroxisome 3
nucleus 3
endoplasmic reticulum 3
plasma membrane 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP7A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP7A1 Gene

Pathways & Interactions for CYP7A1 Gene

genes like me logo Genes that share pathways with CYP7A1: view

UniProtKB/Swiss-Prot P22680-CP7A1_HUMAN

  • Pathway: Lipid metabolism; bile acid biosynthesis.
  • Pathway: Steroid metabolism; cholesterol degradation.

SIGNOR curated interactions for CYP7A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CYP7A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006699 bile acid biosynthetic process IBA,TAS --
GO:0006707 cholesterol catabolic process ISS --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with CYP7A1: view

Drugs & Compounds for CYP7A1 Gene

(34) Drugs for CYP7A1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atorvastatin Approved Pharma 928
cholic acid Approved Pharma 0
cholesterol Approved, Investigational Pharma 0
Oxygen Approved, Vet_approved Pharma 0
Taurocholic acid Approved, Experimental Pharma 0

(27) Additional Compounds for CYP7A1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
7-a,27-Dihydroxycholesterol
  • 5-Cholestene-3beta,7alpha,26-triol
  • 7-alpha,27-Dihydroxycholesterol
  • Cholest-5-ene-3beta,7alpha,26-triol
  • Cholest-5-ene-3beta,7alpha,27-triol
  • 5-Cholestene-3b,7a,26-triol
4725-24-0
7a-Hydroxydehydroepiandrosterone
  • (3beta,7alpha)-3,7-Dihydroxyandrost-5-en-17-one
  • 3beta,7alpha-Dihydroxy-5-androstene-17-one
  • 3beta,7alpha-Dihydroxyandrost-5-en-17-one
  • 7alpha-Hydroxy-dhea
  • 7alpha-OH-DHEA
53-00-9
7alpha-Hydroxycholesterol
  • 7alpha-Hydroxy-cholesterol
  • Cholest-5-ene-3beta,7alpha-diol
  • 7a-Hydroxy-cholesterol
  • 7Α-hydroxy-cholesterol
  • Cholest-5-ene-3b,7a-diol
566-26-7
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with CYP7A1: view

Transcripts for CYP7A1 Gene

mRNA/cDNA for CYP7A1 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP7A1

Alternative Splicing Database (ASD) splice patterns (SP) for CYP7A1 Gene

No ASD Table

Relevant External Links for CYP7A1 Gene

GeneLoc Exon Structure for
CYP7A1

Expression for CYP7A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP7A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP7A1 Gene

This gene is overexpressed in Liver (x40.0).

Protein differential expression in normal tissues from HIPED for CYP7A1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP7A1 Gene



Protein tissue co-expression partners for CYP7A1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP7A1

SOURCE GeneReport for Unigene cluster for CYP7A1 Gene:

Hs.1644

mRNA Expression by UniProt/SwissProt for CYP7A1 Gene:

P22680-CP7A1_HUMAN
Tissue specificity: Detected in liver.

Evidence on tissue expression from TISSUES for CYP7A1 Gene

  • Liver(4.7)
  • Intestine(2.8)
  • Gall bladder(2.7)
  • Blood(2.4)
  • Kidney(2.2)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with CYP7A1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP7A1 Gene

Orthologs for CYP7A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CYP7A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP7A1 29 30
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CYP7A1 29 30
  • 87.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP7A1 29 30
  • 83.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp7a1 29 16 30
  • 82.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp7a1 29
  • 82.24 (n)
Oppossum
(Monodelphis domestica)
Mammalia CYP7A1 30
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP7A1 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYP7A1 29 30
  • 70.97 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYP7A1 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488670 29
  • 68.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii cyp7a1a 29 30
  • 65.67 (n)
OneToOne
zgc63920 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4049 30
  • 36 (a)
ManyToMany
-- 30
  • 31 (a)
ManyToMany
Species where no ortholog for CYP7A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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 CYP7A1 Gene

ENSEMBL:
Gene Tree for CYP7A1 (if available)
TreeFam:
Gene Tree for CYP7A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP7A1: view image
Alliance of Genome Resources:
Additional Orthologs for CYP7A1

Paralogs for CYP7A1 Gene

Paralogs for CYP7A1 Gene

(4) SIMAP similar genes for CYP7A1 Gene using alignment to 1 proteins:

  • CP7A1_HUMAN
genes like me logo Genes that share paralogs with CYP7A1: view

Variants for CYP7A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP7A1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs114370904 Benign: not provided 58,491,742(-) G/A
NM_000780.4(CYP7A1):c.1248C>T (p.Asn416=)
SYNONYMOUS
rs117423932 Uncertain Significance: not provided 58,492,439(-) C/T
NM_000780.4(CYP7A1):c.1129G>A (p.Gly377Ser)
MISSENSE
rs1174493221 Uncertain Significance: not provided 58,492,491(-) G/A
NM_000780.4(CYP7A1):c.1077C>T (p.Ala359=)
SYNONYMOUS
rs1183620680 Uncertain Significance: not provided 58,496,749(-) C/T
NM_000780.4(CYP7A1):c.763G>A (p.Glu255Lys)
MISSENSE
rs1199690733 Uncertain Significance: not provided 58,494,557(-) C/T
NM_000780.4(CYP7A1):c.988G>A (p.Gly330Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP7A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYP7A1 Gene

Variant ID Type Subtype PubMed ID
esv994118 CNV deletion 20482838
nsv1128421 CNV deletion 24896259

Variation tolerance for CYP7A1 Gene

Residual Variation Intolerance Score: 35.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP7A1 Gene

Human Gene Mutation Database (HGMD)
CYP7A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP7A1
Leiden Open Variation Database (LOVD)
CYP7A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP7A1 Gene

Disorders for CYP7A1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for CYP7A1 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
sitosterolemia
  • phytosterolemia
extrahepatic cholestasis
  • extrahepatic biliary stasis
xanthomatosis
  • xanthomatosis, susceptibility to
cerebrotendinous xanthomatosis
  • ctx
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CYP7A1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYP7A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYP7A1 Gene

Publications for CYP7A1 Gene

  1. Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes. (PMID: 19965590) Li T … Chiang JY (Journal of lipid research 2010) 3 4 22
  2. CYP7A1 (-204 A>C; rs3808607 and -469 T>C; rs3824260) promoter polymorphisms and risk of gallbladder cancer in North Indian population. (PMID: 20005541) Srivastava A … Mittal B (Metabolism: clinical and experimental 2010) 3 22 40
  3. A combination of proatherogenic single-nucleotide polymorphisms is associated with increased risk of coronary artery disease and myocardial infarction in Asian Indians. (PMID: 19558216) Poduri A … Talwar KK (DNA and cell biology 2009) 3 22 40
  4. CYP7A1 promoter polymorphism -203A>C affects bile salt synthesis rate in patients after ileal resection. (PMID: 18728290) Lenícek M … Vítek L (Journal of lipid research 2008) 3 22 40
  5. Role of genetic variant A-204C of cholesterol 7alpha-hydroxylase (CYP7A1) in susceptibility to gallbladder cancer. (PMID: 18178499) Srivastava A … Mittal B (Molecular genetics and metabolism 2008) 3 22 40

Products for CYP7A1 Gene

Sources for CYP7A1 Gene