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

    Gene ID: 1577, updated on 14-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 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?
    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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    NEW Try the new Transcript table

    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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