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CYP3A5 cytochrome P450 family 3 subfamily A member 5 [ Homo sapiens (human) ]

Gene ID: 1577, updated on 27-Nov-2024

Summary

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Official Symbol
CYP3A5provided by HGNC
Official Full Name
cytochrome P450 family 3 subfamily A member 5provided by HGNC
Primary source
HGNC:HGNC:2638
See related
Ensembl:ENSG00000106258 MIM:605325; AllianceGenome:HGNC:2638
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CP35; PCN3; CYPIIIA5; P450PCN3
Summary
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. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Expression
Biased expression in small intestine (RPKM 67.4), duodenum (RPKM 57.9) and 7 other tissues See more
Orthologs
all
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Genomic context

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See CYP3A5 in Genome Data Viewer
Location:
7q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99648194..99679996, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100887521..100919516, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99245817..99277619, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transmembrane protein 225B Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:99213715-99214694 Neighboring gene zinc finger and SCAN domain containing 25 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99227460-99228106 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99236540-99236705 Neighboring gene ARF GTPase 6 pseudogene Neighboring gene CYP3A7-CYP3A51P readthrough Neighboring gene CYP3A5 promoter Neighboring gene cytochrome P450 family 3 subfamily A member 51, pseudogene Neighboring gene cytochrome P450 family 3 subfamily A member 7 Neighboring gene CYP3A7 5' regulatory region

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Ilaprazole, a new proton pump inhibitor, is primarily metabolized to ilaprazole sulfone by CYP3A4 and 3A5. Seo KA, et al. Xenobiotica, 2012 Mar. PMID 22022918
  2. CYP3A5*3 affects plasma disposition of noroxycodone and dose escalation in cancer patients receiving oxycodone. Naito T, et al. J Clin Pharmacol, 2011 Nov. PMID 21209234
  3. CYP3A5 genotype does not influence everolimus in vitro metabolism and clinical pharmacokinetics in renal transplant recipients. Picard N, et al. Transplantation, 2011 Mar 27. PMID 21389905, Free PMC Article
  4. The impact of CYP3A5*3 on risk and prognosis in childhood acute lymphoblastic leukemia. Borst L, et al. Eur J Haematol, 2011 Jun. PMID 21418106
  5. Genetic variation in CYP3A43 explains racial difference in olanzapine clearance. Bigos KL, et al. Mol Psychiatry, 2011 Jun. PMID 21519338, Free PMC Article

See all (764) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes.
    Title: Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes.
  2. Effect of CYP3A5 Gene Polymorphisms on Tacrolimus Blood Concentrations and Adverse Events in Allogeneic Hematopoietic Stem Cell Transplant Patients.
    Title: Effect of CYP3A5 Gene Polymorphisms on Tacrolimus Blood Concentrations and Adverse Events in Allogeneic Hematopoietic Stem Cell Transplant Patients.
  3. Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
    Title: Association of genetic variants in CYP3A5, DRD2 and NK1R with opioid overdose.
  4. Effects of CYP3A5*3 genetic polymorphisms on the pharmacokinetics of perampanel in Chinese pediatric patients with epilepsy.
    Title: Effects of CYP3A5*3 genetic polymorphisms on the pharmacokinetics of perampanel in Chinese pediatric patients with epilepsy.
  5. The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics.
    Title: The Frequencies distribution of CYP3A5 rs776746 and ABCB1 rs1045642 polymorphisms in the west Algerian population and relationships with pharmacogenetics.
  6. Correlation of Genetic Polymorphism of CYP3A5 to Cyclophosphamide Efficacy and Toxicity in Rhabdomyosarcoma Pediatric Egyptian Cancer Patients.
    Title: Correlation of Genetic Polymorphism of CYP3A5 to Cyclophosphamide Efficacy and Toxicity in Rhabdomyosarcoma Pediatric Egyptian Cancer Patients.
  7. Association of a CYP3A5 gene polymorphism with exacerbation in adult patients with asthma.
    Title: Association of a CYP3A5 gene polymorphism with exacerbation in adult patients with asthma.
  8. The impact of CYP3A5*3 on oral quetiapine: A population pharmacokinetic model in Chinese bipolar disorder patients.
    Title: The impact of CYP3A5*3 on oral quetiapine: A population pharmacokinetic model in Chinese bipolar disorder patients.
  9. Tacrolimus and Diabetes in Kidney Transplantation: The Impact of Cyp3a5 Gene Polymorphism.
    Title: Tacrolimus and Diabetes in Kidney Transplantation: The Impact of Cyp3a5 Gene Polymorphism.
  10. Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients.
    Title: Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients.
Submit: New GeneRIF Correction See all GeneRIFs (460)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Essential hypertension, genetic
MedGen: CN305331 OMIM: 145500 GeneReviews: Not available
Compare labs
Tacrolimus response
MedGen: C3547403 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31317, DKFZp686L16231

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables estrogen 16-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables estrogen 16-alpha-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monooxygenase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables monooxygenase activity TAS
Traceable Author Statement
more info
  
enables oxidoreductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 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 IEA
Inferred from Electronic Annotation
more info
  
enables oxygen binding TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retinoic acid 4-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables testosterone 6-beta-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in aflatoxin metabolic process TAS
Traceable Author Statement
more info
  
involved_in alkaloid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in estrogen metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in lipid hydroxylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in oxidative demethylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oxidative demethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoic acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in steroid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in xenobiotic catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in intracellular membrane-bounded organelle TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
cytochrome P450 3A5
Names
aryl hydrocarbon hydroxylase
cytochrome P450 HLp2
cytochrome P450, family 3, subfamily A, polypeptide 5
cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5
cytochrome P450-PCN3
flavoprotein-linked monooxygenase
microsomal monooxygenase
xenobiotic monooxygenase
NP_000768.1
NP_001177413.1
NP_001278758.1
NP_001278759.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007938.2 RefSeqGene

    Range
    5003..36805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1431

mRNA and Protein(s)

  1. NM_000777.5 → NP_000768.1  cytochrome P450 3A5 isoform 1

    See identical proteins and their annotated locations for NP_000768.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA076026, BC033862, DC383127
    Consensus CDS
    CCDS5672.1
    UniProtKB/Swiss-Prot
    A4D289, B7Z5I7, P20815, Q53WY8, Q75MV0, Q9HB56
    UniProtKB/TrEMBL
    B2R9K2, Q53GC3
    Related
    ENSP00000222982.4, ENST00000222982.8
    Conserved Domains (1) summary
    pfam00067
    Location:39 → 492
    p450; Cytochrome P450

  2. NM_001190484.3 → NP_001177413.1  cytochrome P450 3A5 isoform 2

    See identical proteins and their annotated locations for NP_001177413.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and uses an alternate 3' exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC005020, AK299002, BC022298
    Consensus CDS
    CCDS55134.1
    UniProtKB/Swiss-Prot
    P20815
    Related
    ENSP00000401269.1, ENST00000439761.3
    Conserved Domains (1) summary
    cl12078
    Location:39 → 100
    p450; Cytochrome P450

  3. NM_001291829.2 → NP_001278758.1  cytochrome P450 3A5 isoform 3

    See identical proteins and their annotated locations for NP_001278758.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA076026, BC025176, DC383127
    Related
    ENST00000461920.5
    Conserved Domains (1) summary
    pfam00067
    Location:5 → 379
    p450; Cytochrome P450

  4. NM_001291830.2 → NP_001278759.1  cytochrome P450 3A5 isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in its 5' UTR and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AA076026, AK296205, DC383127
    UniProtKB/TrEMBL
    B7Z3P6
    Conserved Domains (1) summary
    pfam00067
    Location:29 → 482
    p450; Cytochrome P450

RNA

  1. NR_033807.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes 3 alternate internal segments, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AA076026, BC025176, BX537676, BX648856
    Related
    ENST00000469887.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99648194..99679996 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100887521..100919516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_033810.1: Suppressed sequence

    Description
    NR_033810.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

  2. NR_033811.1: Suppressed sequence

    Description
    NR_033811.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

  3. NR_033812.1: Suppressed sequence

    Description
    NR_033812.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P20815.1 GenPept UniProtKB/Swiss-Prot:P20815

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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