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    CYP3A43 cytochrome P450 family 3 subfamily A member 43 [ Homo sapiens (human) ]

    Gene ID: 64816, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CYP3A43provided by HGNC
    Official Full Name
    cytochrome P450 family 3 subfamily A member 43provided by HGNC
    Primary source
    HGNC:HGNC:17450
    See related
    Ensembl:ENSG00000021461 MIM:606534; AllianceGenome:HGNC:17450
    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
    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 has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
    Expression
    Biased expression in liver (RPKM 2.4), testis (RPKM 0.3) and 1 other tissue See more
    Orthologs
    all
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    Genomic context

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    See CYP3A43 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99828013..99866093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101067527..101105595)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99425636..99463716)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene enhancer in intron 10 of CYP3A4 Neighboring gene cytochrome P450 family 3 subfamily A member 4 Neighboring gene CYP3A4 5' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99406501-99407104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99407105-99407707 Neighboring gene cytochrome P450 family 3 subfamily A member 137, pseudogene Neighboring gene MPRA-validated peak6657 silencer Neighboring gene cytochrome P450 family 3 subfamily A member 52, pseudogene Neighboring gene olfactory receptor family 2 subfamily AE member 1

    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. Analysis of restriction fragment length polymorphism of cytochrome P450 3A43 gene and evaluation of the incidence of CYP3A43*1B allele in europeoid residents of West Siberia. Shchepotina EG, et al. Bull Exp Biol Med, 2005 Dec. PMID 16848237
    2. Effects of CYP3A43 Expression on Cell Proliferation and Migration of Lung Adenocarcinoma and Its Clinical Significance. Wei QY, et al. Int J Mol Sci, 2022 Dec 21. PMID 36613552, Free PMC Article
    3. cDNA cloning and initial characterization of CYP3A43, a novel human cytochrome P450. Domanski TL, et al. Mol Pharmacol, 2001 Feb. PMID 11160876
    4. Cloning and tissue distribution of a novel human cytochrome p450 of the CYP3A subfamily, CYP3A43. Westlind A, et al. Biochem Biophys Res Commun, 2001 Mar. PMID 11243885
    5. First report of a genetic polymorphism of the cytochrome P450 3A43 (CYP3A43) gene: identification of a loss-of-function variant. Cauffiez C, et al. Hum Mutat, 2004 Jan. PMID 14695544

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of CYP3A43 Expression on Cell Proliferation and Migration of Lung Adenocarcinoma and Its Clinical Significance.
      Title: Effects of CYP3A43 Expression on Cell Proliferation and Migration of Lung Adenocarcinoma and Its Clinical Significance.
    2. Cis-acting regulatory elements regulating CYP3A4 transcription in human liver.
      Title: Cis-acting regulatory elements regulating CYP3A4 transcription in human liver.
    3. We investigated the association between genetic polymorphisms in VDR, cytochrome P450 (CYP2R1, CYP24A1, and the CYP3A family) with plasma concentrations of vitamin D metabolites (25-hydroxyvitamin D3 (25(OH)D3) and proportion 24,25-dihydroxyvitamin D3 (24,25(OH)2D3)) among individuals of sub-Saharan African and European ancestry. Only CYP3A43 and VDR polymorphisms were associated with proportion 24,25(OH)2D.
      Title: Ancestry-Adjusted Vitamin D Metabolite Concentrations in Association With Cytochrome P450 3A Polymorphisms.
    4. Mutations in CYP3A43 gene is associated with prostate cancer.
      Title: Searching for candidate genes in familial BRCAX mutation carriers with prostate cancer.
    5. This review support the notion that the SNP CYP3A43this may play a role in antipsychotic response.
      Title: Genetic variation in CYP3A43 is associated with response to antipsychotic medication.
    6. CYP3A43 rs472660 is not likely to be a major contributor towards variability in systemic OLA exposure among White patients
      Title: No influence of CYP3A43 rs472660G> A on steady-state serum olanzapine concentrations in white psychiatric patients.
    7. No differences in genotype frequencies between cases and controls were observed, indicating that CYP3A43_74_delA is not associated with breast cancer risk.
      Title: The frameshift polymorphism CYP3A43_74_delA is associated with poor differentiation of breast tumors.
    8. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
      Title: A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers.
    9. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Joint effects of inflammation and androgen metabolism on prostate cancer severity.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variations in androgen metabolism genes and associations with prostate cancer in South African men.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
    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

    • MGC119315, MGC119316

    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 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, 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 testosterone 6-beta-hydroxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cytochrome metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in oxidative demethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cytochrome P450 3A43
    Names
    cytochrome P450, family 3, subfamily A, polypeptide 43
    cytochrome P450, subfamily IIIA, polypeptide 43
    NP_001265850.1
    NP_073731.1
    NP_476436.1
    NP_476437.1
    XP_016868033.1
    XP_016868034.1
    XP_047276701.1
    XP_047276702.1
    XP_054214818.1
    XP_054214819.1
    XP_054214820.1
    XP_054214821.1

    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_007935.1 RefSeqGene

      Range
      5001..43081
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278921.2 → NP_001265850.1  cytochrome P450 3A43 isoform 4

      See identical proteins and their annotated locations for NP_001265850.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences including a short frameshifted segment in the central coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct internal segment, compared to isoform 1.
      Source sequence(s)
      AF337813, BC100981
      Consensus CDS
      CCDS64723.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000416581.1, ENST00000417625.5
      Conserved Domains (1) summary
      pfam00067
      Location:115 → 383
      p450; Cytochrome P450

    2. NM_022820.5 → NP_073731.1  cytochrome P450 3A43 isoform 1

      See identical proteins and their annotated locations for NP_073731.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF280109, AF337813
      Consensus CDS
      CCDS5675.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000222382.5, ENST00000222382.5
      Conserved Domains (1) summary
      pfam00067
      Location:39 → 494
      p450; Cytochrome P450

    3. NM_057095.3 → NP_476436.1  cytochrome P450 3A43 isoform 2

      See identical proteins and their annotated locations for NP_476436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AF280108, AF337813
      Consensus CDS
      CCDS5676.1
      UniProtKB/Swiss-Prot
      Q495Y1, Q75MK2, Q75MK3, Q9HB52, Q9HB53, Q9HB54, Q9HB55, Q9HB57
      Related
      ENSP00000346887.3, ENST00000354829.7
      Conserved Domains (1) summary
      pfam00067
      Location:39 → 493
      p450; Cytochrome P450

    4. NM_057096.4 → NP_476437.1  cytochrome P450 3A43 isoform 3

      See identical proteins and their annotated locations for NP_476437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AF280109, AF337813
      Consensus CDS
      CCDS5677.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000312110.5, ENST00000312017.9
      Conserved Domains (1) summary
      pfam00067
      Location:39 → 418
      p450; Cytochrome P450

    RNA

    1. NR_103868.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, and lacks several internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF280110, AF337813, BC100982
      Related
      ENST00000436834.5

    2. NR_103869.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate internal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF280111, AF337813
      Related
      ENST00000434806.5

    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
      99828013..99866093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420745.1 → XP_047276701.1  cytochrome P450 3A43 isoform X1

    2. XM_047420746.1 → XP_047276702.1  cytochrome P450 3A43 isoform X1

    3. XM_017012545.2 → XP_016868034.1  cytochrome P450 3A43 isoform X2

    4. XM_017012544.2 → XP_016868033.1  cytochrome P450 3A43 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101067527..101105595
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358843.1 → XP_054214818.1  cytochrome P450 3A43 isoform X1

    2. XM_054358844.1 → XP_054214819.1  cytochrome P450 3A43 isoform X1

    3. XM_054358846.1 → XP_054214821.1  cytochrome P450 3A43 isoform X2

    4. XM_054358845.1 → XP_054214820.1  cytochrome P450 3A43 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB55.1 GenPept UniProtKB/Swiss-Prot:Q9HB55

    Gene LinkOut

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

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