Human Gene CYP7A1 (ENST00000301645.4_7) from GENCODE V47lift37
  Description: cytochrome P450 family 7 subfamily A member 1 (from RefSeq NM_000780.4)
Gencode Transcript: ENST00000301645.4_7
Gencode Gene: ENSG00000167910.4_9
Transcript (Including UTRs)
   Position: hg19 chr8:59,402,737-59,412,722 Size: 9,986 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg19 chr8:59,404,034-59,412,657 Size: 8,624 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:59,402,737-59,412,722)mRNA (may differ from genome)Protein (504 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CP7A1_HUMAN
DESCRIPTION: RecName: Full=Cholesterol 7-alpha-monooxygenase; EC=1.14.13.17; AltName: Full=CYPVII; AltName: Full=Cholesterol 7-alpha-hydroxylase; AltName: Full=Cytochrome P450 7A1;
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.
COFACTOR: Heme group.
PATHWAY: Lipid metabolism; bile acid biosynthesis.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
TISSUE SPECIFICITY: Detected in liver.
INDUCTION: Up-regulated by glucose and by cholestyramine. Down- regulated by chenodeoxycholic acid.
SIMILARITY: Belongs to the cytochrome P450 family.
WEB RESOURCE: Name=Wikipedia; Note=Cholesterol-7 alpha-hydroxylase entry; URL="http://en.wikipedia.org/wiki/Cholesterol_7_alpha-hydroxylase";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYP7A1
Diseases sorted by gene-association score: hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency* (350), sitosterolemia (22), extrahepatic cholestasis (16), xanthomatosis (10), cerebrotendinous xanthomatosis (10), cholestasis (8), cholelithiasis (7), bile duct disease (6), biliary tract disease (5), hypercholesterolemia, familial (2), leber congenital amaurosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.08 RPKM in Liver
Total median expression: 3.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.3065-0.097 Picture PostScript Text
3' UTR -295.801297-0.228 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR024204 - Cyt_P450_CYP7A1-type
IPR002403 - Cyt_P450_E_grp-IV

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3DAX - X-ray MuPIT 3SN5 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22680
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0008123 cholesterol 7-alpha-monooxygenase activity
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006699 bile acid biosynthetic process
GO:0006707 cholesterol catabolic process
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0016125 sterol metabolic process
GO:0019216 regulation of lipid metabolic process
GO:0042632 cholesterol homeostasis
GO:0055114 oxidation-reduction process
GO:0070857 regulation of bile acid biosynthetic process
GO:0071333 cellular response to glucose stimulus
GO:0071397 cellular response to cholesterol

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0031090 organelle membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  E03600 - DNA encoding cholesterol 7 alpha-monooxygenase.
M93133 - Human cholesterol 7-alpha hydroxylase (CYP7) mRNA, complete cds.
X56088 - Human mRNA for cholesterol 7-alpha-hydroxylase.
JD305352 - Sequence 286376 from Patent EP1572962.
JD244375 - Sequence 225399 from Patent EP1572962.
JD168106 - Sequence 149130 from Patent EP1572962.
JD213987 - Sequence 195011 from Patent EP1572962.
JD112997 - Sequence 94021 from Patent EP1572962.
JD165189 - Sequence 146213 from Patent EP1572962.
JD221024 - Sequence 202048 from Patent EP1572962.
JD500658 - Sequence 481682 from Patent EP1572962.
JD243512 - Sequence 224536 from Patent EP1572962.
JD319401 - Sequence 300425 from Patent EP1572962.
JD043114 - Sequence 24138 from Patent EP1572962.
JD096041 - Sequence 77065 from Patent EP1572962.
JD511487 - Sequence 492511 from Patent EP1572962.
JD286646 - Sequence 267670 from Patent EP1572962.
JD065765 - Sequence 46789 from Patent EP1572962.
JD551939 - Sequence 532963 from Patent EP1572962.
JD074567 - Sequence 55591 from Patent EP1572962.
JD136320 - Sequence 117344 from Patent EP1572962.
JD283181 - Sequence 264205 from Patent EP1572962.
JD305130 - Sequence 286154 from Patent EP1572962.
JD553893 - Sequence 534917 from Patent EP1572962.
JD343484 - Sequence 324508 from Patent EP1572962.
JD235517 - Sequence 216541 from Patent EP1572962.
JD051929 - Sequence 32953 from Patent EP1572962.
JD188390 - Sequence 169414 from Patent EP1572962.
JD051061 - Sequence 32085 from Patent EP1572962.
BC101777 - Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:126826 IMAGE:8069283), complete cds.
BC112184 - Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1, mRNA (cDNA clone MGC:138389 IMAGE:8327652), complete cds.
JD480019 - Sequence 461043 from Patent EP1572962.
JD131644 - Sequence 112668 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6061 - bile acid biosynthesis, neutral pathway

Reactome (by CSHL, EBI, and GO)

Protein P22680 (Reactome details) participates in the following event(s):

R-HSA-192051 CYP7A1 7-hydroxylates CHOL
R-HSA-191972 27-hydroxycholesterol is 7alpha-hydroxylated
R-HSA-192065 CYP7B1 7-hydroxylates 25OH-CHOL
R-HSA-1989781 PPARA activates gene expression
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-211976 Endogenous sterols
R-HSA-193807 Synthesis of bile acids and bile salts via 27-hydroxycholesterol
R-HSA-192105 Synthesis of bile acids and bile salts
R-HSA-556833 Metabolism of lipids
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-1430728 Metabolism
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-8957322 Metabolism of steroids
R-HSA-211859 Biological oxidations

-  Other Names for This Gene
  Alternate Gene Symbols: CP7A1_HUMAN, CYP7, CYP7A1 , ENST00000301645.1, ENST00000301645.2, ENST00000301645.3, NM_000780, P22680, P78454, Q3MIL8, Q7KZ19, uc317mvs.1, uc317mvs.2
UCSC ID: ENST00000301645.4_7
RefSeq Accession: NM_000780.4
Protein: P22680 (aka CP7A1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.