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

    Gene ID: 64816, updated on 6-Sep-2017
    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; Vega:OTTHUMG00000156498
    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
    Location:
    7q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (99828013..99867138)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99425636..99463727)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 3 subfamily A member 4 Neighboring gene cytochrome P450 family 3 subfamily A member 137, pseudogene Neighboring gene cytochrome P450 family 3 subfamily A member 52, pseudogene Neighboring gene olfactory receptor family 2 subfamily AE member 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
    NHGRI GWA Catalog
    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Chemical carcinogenesis, organism-specific biosystem (from KEGG)
      Chemical carcinogenesis, organism-specific biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
    • Chemical carcinogenesis, conserved biosystem (from KEGG)
      Chemical carcinogenesis, conserved biosystemIt has been estimated that exposure to environmental chemical carcinogens may contribute significantly to the causation of a sizable fraction, perhaps a majority, of human cancers. Human carcinogens ...
    • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
      Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
      Metapathway biotransformation, organism-specific biosystem
      Metapathway biotransformation
    • Miscellaneous substrates, organism-specific biosystem (from REACTOME)
      Miscellaneous substrates, organism-specific biosystemApproximately a quarter of the 57 human CYPs still remain "orphans" in the sense that their function, expression sites, and regulation are largely not elucidated. While there is enough experimental e...
    • Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
      Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
    • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
      Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
    • Xenobiotics, organism-specific biosystem (from REACTOME)
      Xenobiotics, organism-specific biosystemOf the 50 microsomal CYPs, 15 act on xenobiotics. They all possess wide substrate specificity to cater for most foreign compounds that find their way into the body.

    Markers

    Homology

    Clone Names

    • MGC119315, MGC119316

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    aromatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    organelle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    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_016868031.1
    XP_016868032.1
    XP_016868033.1
    XP_016868034.1

    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..43092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278921.1NP_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)
      AA417369, AF337813, BC100981
      Consensus CDS
      CCDS64723.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000416581.1, OTTHUMP00000209989, ENST00000417625.5, OTTHUMT00000344381
      Conserved Domains (1) summary
      pfam00067
      Location:115383
      p450; Cytochrome P450
    2. NM_022820.4NP_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)
      AA417369, AF280109, AF337813
      Consensus CDS
      CCDS5675.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000222382.5, OTTHUMP00000210037, ENST00000222382.5, OTTHUMT00000344468
      Conserved Domains (1) summary
      pfam00067
      Location:39494
      p450; Cytochrome P450
    3. NM_057095.2NP_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)
      AA417369, AF280108, AF337813
      Consensus CDS
      CCDS5676.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000346887.2, OTTHUMP00000209987, ENST00000354829.6, OTTHUMT00000344379
      Conserved Domains (1) summary
      pfam00067
      Location:39493
      p450; Cytochrome P450
    4. NM_057096.3NP_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)
      AA417369, AF280109, AF337813
      Consensus CDS
      CCDS5677.1
      UniProtKB/Swiss-Prot
      Q9HB55
      Related
      ENSP00000312110.5, OTTHUMP00000209994, ENST00000312017.9, OTTHUMT00000344391
      Conserved Domains (1) summary
      pfam00067
      Location:39418
      p450; Cytochrome P450

    RNA

    1. NR_103868.1 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)
      AA417369, AF280110, AF337813, BC100982
      Related
      ENST00000436834.5, OTTHUMT00000344380
    2. NR_103869.1 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)
      AA417369, AF280111, AF337813
      Related
      ENST00000434806.5, OTTHUMT00000344390

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      99828013..99867138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012542.1XP_016868031.1  cytochrome P450 3A43 isoform X1

    2. XM_017012543.1XP_016868032.1  cytochrome P450 3A43 isoform X1

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

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      99355683..99393889
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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