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

Gene ID: 64816, updated on 7-May-2016
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 HPRD:05942; 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]
Orthologs
Location:
7q21.1
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (99828013..99867092)
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, polypeptide 5 pseudogene 2 Neighboring gene cytochrome P450 family 3 subfamily A member 4 Neighboring gene olfactory receptor family 2 subfamily AE member 1 Neighboring gene tripartite motif containing 4

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...
  • 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...
  • 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.
  • cytochrome P450, organism-specific biosystem (from WikiPathways)
    cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    metapathway biotransformation, organism-specific biosystem
    metapathway biotransformation

Markers

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
 
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

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, OTTHUMP00000209989, ENST00000417625, 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, OTTHUMP00000210037, ENST00000222382, 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, OTTHUMP00000209987, ENST00000354829, 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, OTTHUMP00000209994, ENST00000312017, 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, 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, OTTHUMT00000344390

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    99828013..99867092
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516493.1XP_011514795.1  

    Conserved Domains (1) summary
    pfam00067
    Location:39532
    p450; Cytochrome P450
  2. XM_011516494.1XP_011514796.1  

    Conserved Domains (1) summary
    cl12078
    Location:127278
    p450; Cytochrome P450

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

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