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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP7A1 Gene

protein-coding GIFtS: 62
GCID: GC08M059452

cytochrome P450, family 7, subfamily A, polypeptide 1

(Previous names: cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase),...)
(Previous symbol: CYP7)

Explore 35 diseases affiliated with
CYP7A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 7, Subfamily A, Polypeptide 1¹ ²		Cytochrome P450, Subfamily VIIA (Cholesterol 7 Alpha-Monooxygenase), Polypeptide 1¹
CYP7¹ ² ³ ⁵		CP7A²
Cholesterol 7-Alpha-Hydroxylase² ³		Cholesterol 7-Alpha-Monooxygenase²
Cytochrome P450 7A1² ³		Cytochrome P450, Subfamily VIIA Polypeptide 1²
CYPVII² ³		EC 1.14.13⁸
EC 1.14.13.17³ ⁸

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP7A1:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

SABiosciences 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 plasmid: CYP7A1 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP7A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680 (See protein sequence)

Recommended Name: Cholesterol 7-alpha-monooxygenase

Size: 504 amino acids; 57661 Da

Cofactor: Heme group

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral

membrane protein

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P22680

4/8 DME Specific Peptides for CYP7A1 (P22680) (see all 8)

YVHFITN

FLNDTLST

FLRANQRK

DGNTTENIN

CYP7A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000771.2

ENSEMBL proteins:

ENSP00000301645

Reactome Protein details: P22680
Human Recombinant Protein Products:

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	Uscn Proteins for CYP7A1

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0043231	intracellular membrane-bounded organelle	ISS	--

CYP7A1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CYP7A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CYP7A1 for domains About GeneDecksing

4 InterPro domains/families:

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 family: IPB002403 E-class P450 group IV signature

UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680

Similarity: Belongs to the cytochrome P450 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		miRTarBase miRNAs that target CYP7A1: hsa-mir-422a (MIRT000469), hsa-mir-122 (MIRT000012)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP7A1
		6 QIAGEN miScript miRNA 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 plasmid: CYP7A1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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DNA2.0 Custom Protein Engineering Service for CYP7A1

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		GenScript: all cDNA clones in your preferred vector: CYP7A1 (NM_000780)
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		Search LifeMap BioReagents cell lines for CYP7A1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP7A1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0008123	cholesterol 7-alpha-monooxygenase activity	ISS	--
GO:0009055	electron carrier activity	IEA	--
GO:0020037	heme binding	IEA	--

CYP7A1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Cyp7a1^tm1Rus for CYP7A1
     8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyp7a1):

behavior/neurological	digestive/alimentary	growth/size	homeostasis/metabolism	integument
liver/biliary system	mortality/aging	vision/eye

CYP7A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Synthesis of bile acids and bile salts

Synthesis of bile acids and bile salts	1.00	Bile acid and bile salt metabolism	0.70
Primary bile acid biosynthesis	0.84	bile acid biosynthesis, neutral pathway	0.52
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	0.79	Synthesis of bile acids and bile salts via 27-hydroxycholesterol	0.37

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	1.00			cytochrome P450	0.73
	Phase 1 - Functionalization of compounds	0.74

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Statin Pathway, Pharmacodynamics

Statin Pathway, Pharmacodynamics

1.00

Statin Pathway

0.80

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for CYP7A1 (see all 6)

	Statin Pathway
	cytochrome P450
	bile acid biosynthesis, neutral pathway
	Drug Induction of Bile Acid Pathway
	Nuclear receptors in lipid metabolism and toxicity

5/14 Reactome Pathways for CYP7A1 (see all 14)

	Cytochrome P450 - arranged by substrate type
	Expression of CYP7A1
	Bile acid and bile salt metabolism
	Metabolism
	Synthesis of bile acids and bile salts

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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CYP7A1

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

5/30 Interacting proteins for CYP7A1 (ENSP00000301645⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 30)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CARM1	ENSP00000325690⁴	STRING: ENSP00000325690
CH25H	ENSP00000360918⁴	STRING: ENSP00000360918
CREBBP	ENSP00000262367⁴	STRING: ENSP00000262367
CYP1A1	ENSP00000369050⁴	STRING: ENSP00000369050
CYP27A1	ENSP00000258415⁴	STRING: ENSP00000258415

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006699	bile acid biosynthetic process	TAS	--
GO:0006707	cholesterol catabolic process	ISS	--
GO:0006805	xenobiotic metabolic process	TAS	--
GO:0008206	bile acid metabolic process	TAS	--
GO:0042632	cholesterol homeostasis	ISS	--

CYP7A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CYP7A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP7A1

8 HMDB Compounds for CYP7A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Taurocholic acid	3a,7a,12a-Trihydroxy-5b-cholanic acid-24-taurine (see all 7)	81-24-3	8457195
7a-Hydroxycholesterol	7alpha-Hydroxycholesterol (see all 5)	--	--
Cholesterol	(+)-ent-Cholesterol (see all 39)	57-88-5	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

10/51 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about CYP7A1 / CP7A1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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)

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		hsa-miR-875-3p hsa-miR-222 hsa-miR-3148 hsa-miR-192* hsa-miR-221 hsa-miR-548c-3p
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP7A1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP7A1

Additional cDNA sequence:

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

4 DOTS entries:

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

13 AceView cDNA sequences:

NM_000780 M93133 AV687249 X56088 AV698976 AV690202 AV682389 AV682932

AV686267 AV686629 AV688429 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CYP7A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CYP7A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Perivenous Hepatocytes

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Hepatocyte-like cells (Functional hepatocyt...)

See CYP7A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP7A1

SOURCE GeneReport for Unigene cluster: Hs.1644

UniProtKB/Swiss-Prot: CP7A1_HUMAN, P22680

Tissue specificity: Detected in liver

SABiosciences Expression via Pathway-Focused 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:

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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

This gene was present in the common ancestor of chordates.

Orthologs for CYP7A1 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
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	--	65(a)	1 ↔ 1	4(27619625-27627137)
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)
About This Section

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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10094766^1,2	C,F,H,	--	54889544(+)	`TATGAG/TTATTT`	1	--	ds500¹		5		NS EA WA	532
rs199557345^1,2	C	--	54891425(-)	`GTTCGC/TTATCC`	2	A V	mis¹		0	--	--	--	--
rs8192877^1,2	C,F,H,	--	54891666(-)	`ACTAAT/CGGGGT`	1	--	int¹		35		NS EA NA MN WA	4356
rs77341564^1,2	F,	--	54892052(+)	`TAAAAT/GCAATT`	1	--	int¹		1		WA	118
rs11776369^1,2	C,H	--	54892758(+)	`ctatgA/Ttgccc`	1	--	int¹		0	--	--	--	--
rs60950687^1,2		--	54893118(+)	`GCTTCA/CGTTCA`	1	--	int¹		0	--	--	--	--
rs11786580^1,2	C,F,A,H,	--	54893165(+)	`TGATGC/TTGCGT`	1	--	int¹		34		NS EA NA MN WA	4274
rs7001964^1,2	C,	--	54893740(+)	`gatcgT/Cgccat`	1	--	int¹		1		CSA	1
rs113073038^1,2	C,F,	--	54893770(+)	`CAGAAC/TAAGAC`	1	--	int¹		2		NA WA	4
rs11998699^1,2	C,F,H,	--	54894005(+)	`AACATG/AGTGTG`	1	--	int¹		8		NS EA NA WA	932

HapMap Linkage Disequilibrium report for CYP7A1 (59402737 - 59412795 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CYP7A1: --
Human Gene Mutation Database (HGMD): CYP7A1

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QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP7A1

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(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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CYP7A1 for disorders           About GeneDecksing

OMIM gene information: 118455    OMIM disorders: --

20/35 diseases for CYP7A1 (see all 35):    About MalaCards

cholesterol cerebrotendinous xanthomatosis neuromyelitis optica sitosterolemia

extrahepatic cholestasis xanthomatosis sleep apnea hypercholesterolemia

metabolic disorders cholestasis coronary heart disease inflammatory bowel disease

familial hypercholesterolemia hypertriglyceridemia apnea hyperthyroidism

insulin resistance hypothyroidism hepatoblastoma cholelithiasis

4 diseases from the University of Copenhagen DISEASES database for CYP7A1:

Cholestasis Congenital bile acid synthesis defect Cholelithiasis Cerebrotendinous xanthomatosis

10/19 Novoseek 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 9 sources (see all 311):
(articles sorted by number of sources associating them with CYP7A1)

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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. (2004)
Glucose stimulates cholesterol 7alpha-hydroxylase gene transcription in human hepatocytes. (PubMed id 19965590)^{1, 2, 9} Li T.... Chiang J.Y. (2010)
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. (1994)
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. (2005)
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. (2004)
Transcriptional regulation of the human cholesterol 7 alpha- hydroxylase gene. (PubMed id 1312351)^{1, 2, 9} Molowa D.T.... Tan C.P. (1992)
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. (1992)
Variable association between genetic variation in the CYP7 gene promoter and plasma lipoproteins in three Canadian populations. (PubMed id 11257258)^{1, 4, 9} Hegele R.A....Anderson C.M. (2001)
Genetic variation in the rate-limiting enzyme in cholesterol catabolism (cholesterol 7alpha-hydroxylase) influences the progression of atherosclerosis and risk of new clinical events. (PubMed id 15707388)^{1, 4, 9} Hofman M.K....Jukema J.W. (2005)
A promoter polymorphism in cholesterol 7alpha-hydroxylase interacts with apolipoprotein E genotype in the LDL-lowering response to atorvastatin. (PubMed id 15910869)^{1, 4, 9} Kajinami K....Schaefer E.J. (2005)

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

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(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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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

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CYP7A1 Gene

cytochrome P450, family 7, subfamily A, polypeptide 1

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cytochrome P450, family 7, subfamily A, polypeptide 1

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