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

Gene ID: 64816, updated on 13-Mar-2020

Summary

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
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

Genomic context

See CYP3A43 in Genome Data Viewer
Location:
7q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (99827626..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 CYP3A4 5' regulatory region 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

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC119315, MGC119316

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aromatase activity IEA
Inferred from Electronic Annotation
more info
 
estrogen 16-alpha-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
testosterone 6-beta-hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
oxidative demethylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

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_024302645.1

NCBI Reference Sequences (RefSeq)

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_001278921.2NP_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:115383
    p450; Cytochrome P450
  2. NM_022820.5NP_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:39494
    p450; Cytochrome P450
  3. NM_057095.3NP_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
    Q9HB55
    Related
    ENSP00000346887.2, ENST00000354829.6
    Conserved Domains (1) summary
    pfam00067
    Location:39493
    p450; Cytochrome P450
  4. NM_057096.4NP_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:39418
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    99827626..99867138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446877.1XP_024302645.1  cytochrome P450 3A43 isoform X1

    Conserved Domains (1) summary
    pfam00067
    Location:1384
    p450; Cytochrome P450
  2. XM_017012545.1XP_016868034.1  cytochrome P450 3A43 isoform X2

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

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