Human Gene CYP3A4 (ENST00000651514.1)
  Description: Homo sapiens cytochrome P450 family 3 subfamily A member 4 (CYP3A4), transcript variant 1, mRNA. (from RefSeq NM_017460)
RefSeq Summary (NM_017460): This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam and erythromycin. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2011].
Gencode Transcript: ENST00000651514.1
Gencode Gene: ENSG00000160868.15
Transcript (Including UTRs)
   Position: hg38 chr7:99,756,967-99,784,184 Size: 27,218 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg38 chr7:99,758,133-99,784,081 Size: 25,949 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:99,756,967-99,784,184)mRNA (may differ from genome)Protein (503 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIOMIMPubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: Q6GRK0_HUMAN
DESCRIPTION: SubName: Full=Cytochrome P450 family 3 subfamily A polypeptide 4; SubName: Full=Cytochrome P450, family 3, subfamily A, polypeptide 4; SubName: Full=Cytochrome P450, family 3, subfamily A, polypeptide 4, isoform CRA_a; SubName: Full=Cytochrome P450, subfamily IIIA, polypeptide 4; SubName: Full=cDNA, FLJ93427, Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4(CYP3A4), transcript variant 1, mRNA;
SIMILARITY: Belongs to the cytochrome P450 family.

-  MalaCards Disease Associations
  MalaCards Gene Search: CYP3A4
Diseases sorted by gene-association score: cyp3a4-related altered drug metabolism* (100), tacrolimus dose selection* (18), hemangioma of liver (10), diarrhea (9), koro (9), methemoglobinemia (8), clopidogrel resistance (7), esophageal candidiasis (7), hemopericardium (7), dependent personality disorder (6), hepatocellular adenoma (6), serotonin syndrome (6), impotence (5), hemangioma of intra-abdominal structure (4), kleptomania (4), liver disease (4), osteoporosis (3), obesity (2), colorectal cancer (2), leber congenital amaurosis (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 247.40 RPKM in Liver
Total median expression: 375.69 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 -22.30103-0.217 Picture PostScript Text
3' UTR -305.101166-0.262 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
IPR008072 - Cyt_P450_E_CYP3A
IPR002402 - Cyt_P450_E_grp-II

Pfam Domains:
PF00067 - Cytochrome P450

ModBase Predicted Comparative 3D Structure on Q6GRK0
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
Genome BrowserNo orthologNo orthologGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGI EnsemblEnsemblWormBase 
Protein Sequence  Protein SequenceProtein Sequence 
Alignment  AlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  J04449 - Homo sapiens (clone NF 10) cytochrome P-450 nifedipine oxidase mRNA, complete cds.
X12387 - Human mRNA for cytochrome P-450 (cyp3 locus).
JD215566 - Sequence 196590 from Patent EP1572962.
JD424969 - Sequence 405993 from Patent EP1572962.
JD366836 - Sequence 347860 from Patent EP1572962.
JD364616 - Sequence 345640 from Patent EP1572962.
JD401745 - Sequence 382769 from Patent EP1572962.
JD307143 - Sequence 288167 from Patent EP1572962.
JD434973 - Sequence 415997 from Patent EP1572962.
JD529746 - Sequence 510770 from Patent EP1572962.
JD401744 - Sequence 382768 from Patent EP1572962.
JD401743 - Sequence 382767 from Patent EP1572962.
JD223970 - Sequence 204994 from Patent EP1572962.
JD325328 - Sequence 306352 from Patent EP1572962.
JD197315 - Sequence 178339 from Patent EP1572962.
JD539981 - Sequence 521005 from Patent EP1572962.
JD496545 - Sequence 477569 from Patent EP1572962.
JD089430 - Sequence 70454 from Patent EP1572962.
JD304435 - Sequence 285459 from Patent EP1572962.
JD411987 - Sequence 393011 from Patent EP1572962.
JD258466 - Sequence 239490 from Patent EP1572962.
JD258503 - Sequence 239527 from Patent EP1572962.
JD417713 - Sequence 398737 from Patent EP1572962.
JD417767 - Sequence 398791 from Patent EP1572962.
JD164712 - Sequence 145736 from Patent EP1572962.
JD459439 - Sequence 440463 from Patent EP1572962.
JD476473 - Sequence 457497 from Patent EP1572962.
JD276448 - Sequence 257472 from Patent EP1572962.
JD071060 - Sequence 52084 from Patent EP1572962.
JD286559 - Sequence 267583 from Patent EP1572962.
JD499624 - Sequence 480648 from Patent EP1572962.
JD533703 - Sequence 514727 from Patent EP1572962.
JD533702 - Sequence 514726 from Patent EP1572962.
JD421145 - Sequence 402169 from Patent EP1572962.
JD443550 - Sequence 424574 from Patent EP1572962.
JD443549 - Sequence 424573 from Patent EP1572962.
JD236107 - Sequence 217131 from Patent EP1572962.
D00003 - Homo sapiens mRNA for cytochrome P-450, complete cds.
M13785 - Human liver glucocorticoid-inducible cytochrome P-450 (HLp) mRNA, complete cds.
M18907 - Human P450 mRNA encoding nifedipine oxidase, complete cds.
M14096 - Human cytochrome P-450 nifedipine oxidase mRNA, complet cds.
AK298462 - Homo sapiens cDNA FLJ51522 complete cds, highly similar to Cytochrome P450 3A4 (EC 1.14.13.67).
AK298451 - Homo sapiens cDNA FLJ51521 complete cds, highly similar to Cytochrome P450 3A4 (EC 1.14.13.67).
BC069352 - Homo sapiens cDNA clone IMAGE:7262301, containing frame-shift errors.
BC069418 - Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4, mRNA (cDNA clone MGC:97095 IMAGE:7262313), complete cds.
JD281521 - Sequence 262545 from Patent EP1572962.
AF182273 - Homo sapiens cytochrome P450-3A4 (CYP3A4) mRNA, complete cds.
JD251166 - Sequence 232190 from Patent EP1572962.
JD440273 - Sequence 421297 from Patent EP1572962.
BC101631 - Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4, mRNA (cDNA clone MGC:126680 IMAGE:8069137), complete cds.
AJ563377 - Homo sapiens mRNA for cytochrome P450 (CYP3A43/CYP3A4 gene).
AJ563376 - Homo sapiens partial mRNA for cytochrome P450 (CYP3A43 and CYP3A4 genes).
AJ563375 - Homo sapiens mRNA for cytochrome P450 (CYP3A43/CYP3A4 gene).
DQ924960 - Homo sapiens cytochrome P450 family 3 subfamily A polypeptide 4 (CYP3A4) mRNA, complete cds.
E10636 - Human cDNA encoding cytochrome P4503A4.
E10855 - cDNA encoding human cytochrome P450.
AK312967 - Homo sapiens cDNA, FLJ93427, Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4(CYP3A4), transcript variant 1, mRNA.
KJ891017 - Synthetic construct Homo sapiens clone ccsbBroadEn_00411 CYP3A4 gene, encodes complete protein.
KR711351 - Synthetic construct Homo sapiens clone CCSBHm_00022981 CYP3A4 (CYP3A4) mRNA, encodes complete protein.
KR711352 - Synthetic construct Homo sapiens clone CCSBHm_00022982 CYP3A4 (CYP3A4) mRNA, encodes complete protein.
KR711353 - Synthetic construct Homo sapiens clone CCSBHm_00022989 CYP3A4 (CYP3A4) mRNA, encodes complete protein.
KR711354 - Synthetic construct Homo sapiens clone CCSBHm_00022992 CYP3A4 (CYP3A4) mRNA, encodes complete protein.
AY606313 - Homo sapiens cytochrome P450-3A4-like (CYP3A4) mRNA, complete sequence.
CU686796 - Synthetic construct Homo sapiens gateway clone IMAGE:100022668 5' read CYP3A4 mRNA.
JD324338 - Sequence 305362 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00140 - Steroid hormone biosynthesis
hsa00591 - Linoleic acid metabolism
hsa00830 - Retinol metabolism
hsa00980 - Metabolism of xenobiotics by cytochrome P450
hsa00982 - Drug metabolism - cytochrome P450
hsa00983 - Drug metabolism - other enzymes
hsa01100 - Metabolic pathways

BioCarta from NCI Cancer Genome Anatomy Project
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity

-  Other Names for This Gene
  Alternate Gene Symbols: hCG_17094, NM_017460, Q6GRK0, Q6GRK0_HUMAN, tcag7.603, uc287hlx.1
UCSC ID: ENST00000651514.1
RefSeq Accession: NM_017460
Protein: Q6GRK0 CCDS: CCDS5674.1

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