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

Summary

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

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes.
Title: Impact of CYP3A5 Polymorphisms on Pediatric Asthma Outcomes.
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.
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.
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.
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.
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.
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.
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.
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.
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	not available
Tacrolimus response MedGen: C3547403 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH123304 (e-PCR)
- UniSTS:135681

RH71343 (e-PCR)
- UniSTS:45608

RH45981 (e-PCR)
- UniSTS:54361

D11S3059 (e-PCR)
- UniSTS:152157

D7S647 (e-PCR)
- UniSTS:29537

SHGC-8697 (e-PCR)
- UniSTS:82325

D7S2874 (e-PCR)
- UniSTS:27061

D7S647 (e-PCR)
- UniSTS:16622

SHGC-1891 (e-PCR)
- UniSTS:27128

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

EC 1.14.14.1

NP_001177413.1

EC 1.14.14.1

NP_001278758.1

EC 1.14.14.1

NP_001278759.1

EC 1.14.14.1

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

NG_007938.2 RefSeqGene

Range

5003..36805

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1431

mRNA and Protein(s)

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
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
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
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

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

99648194..99679996 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

NR_033810.1: Suppressed sequence

Description

NR_033810.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
NR_033811.1: Suppressed sequence

Description

NR_033811.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
NR_033812.1: Suppressed sequence

Description

NR_033812.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.