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CYP20A1 cytochrome P450 family 20 subfamily A member 1 [ Homo sapiens (human) ]

Gene ID: 57404, updated on 2-Nov-2024

Summary

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Official Symbol
CYP20A1provided by HGNC
Official Full Name
cytochrome P450 family 20 subfamily A member 1provided by HGNC
Primary source
HGNC:HGNC:20576
See related
Ensembl:ENSG00000119004 AllianceGenome:HGNC:20576
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
CYP-M
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 2.4), kidney (RPKM 1.7) and 25 other tissues See more
Orthologs
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Genomic context

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See CYP20A1 in Genome Data Viewer
Location:
2q33.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (203239018..203306026)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (203720529..203787984)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (204103741..204170749)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene neurobeachin like 1 Neighboring gene ribosomal protein L23a pseudogene 36 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:203975480-203975646 Neighboring gene ribosomal protein L12 pseudogene 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12253 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:204103777-204104348 Neighboring gene RNA, 7SL, cytoplasmic 670, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:204192004-204192974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12255 Neighboring gene mitochondrial ribosomal protein L50 pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:204209822-204210322 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17011 Neighboring gene MPRA-validated peak4020 silencer Neighboring gene abl interactor 2 Neighboring gene tRNA-Glu (anticodon TTC) 9-1

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 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. Multiple Alu Exonization in 3'UTR of a Primate-Specific Isoform of CYP20A1 Creates a Potential miRNA Sponge. Bhattacharya A, et al. Genome Biol Evol, 2021 Jan 7. PMID 33434274, Free PMC Article
  2. [Expression of cytochrome P450 enzymes in human nasopharyngeal carcinoma and non-cancerous nasopharynx tissue]. Jiang JH, et al. Ai Zheng, 2004 Jun. PMID 15191668
  3. The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China. Liang T, et al. Genes Genomics, 2022 Sep. PMID 34302632
  4. Molecular genetics of the human cytochrome P450 monooxygenase superfamily. Smith G, et al. Xenobiotica, 1998 Dec. PMID 9890157
  5. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. Croteau-Chonka DC, et al. Obesity (Silver Spring), 2011 May. PMID 20966902, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China.
    Title: The association study between CYP20A1, CYP4F2, CYP2D6 gene polymorphisms and coronary heart disease risk in the Han population in southern China.
  2. Multiple Alu Exonization in 3'UTR of a Primate-Specific Isoform of CYP20A1 Creates a Potential miRNA Sponge.
    Title: Multiple Alu Exonization in 3'UTR of a Primate-Specific Isoform of CYP20A1 Creates a Potential miRNA Sponge.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
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)

Genotypes

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

  • MGC22229

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables monooxygenase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 

General protein information

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Preferred Names
cytochrome P450 20A1
Names
cytochrome P450 monooxygenase
cytochrome P450, family 20, subfamily A, polypeptide 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_007956.1 RefSeqGene

    Range
    5578..72586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001371695.1 → NP_001358624.1  cytochrome P450 20A1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    Consensus CDS
    CCDS92931.1
    UniProtKB/TrEMBL
    B4DLN7, E9PHG5
    Related
    ENSP00000407860.2, ENST00000429815.6
    Conserved Domains (1) summary
    cl12078
    Location:43 → 454
    p450; Cytochrome P450

  2. NM_001371696.1 → NP_001358625.1  cytochrome P450 20A1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:62 → 344
    p450; Cytochrome P450

  3. NM_001371697.1 → NP_001358626.1  cytochrome P450 20A1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:62 → 344
    p450; Cytochrome P450

  4. NM_001371698.1 → NP_001358627.1  cytochrome P450 20A1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:62 → 344
    p450; Cytochrome P450

  5. NM_001371699.1 → NP_001358628.1  cytochrome P450 20A1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:54 → 279
    p450; Cytochrome P450

  6. NM_001371700.1 → NP_001358629.1  cytochrome P450 20A1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:119 → 279
    p450; Cytochrome P450

  7. NM_001371701.1 → NP_001358630.1  cytochrome P450 20A1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q658T6
    Conserved Domains (1) summary
    cl12078
    Location:119 → 279
    p450; Cytochrome P450

  8. NM_001371702.1 → NP_001358631.1  cytochrome P450 20A1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q8WZ13
    Conserved Domains (1) summary
    cl12078
    Location:1 → 218
    p450; Cytochrome P450

  9. NM_001371703.1 → NP_001358632.1  cytochrome P450 20A1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q8WZ13
    Conserved Domains (1) summary
    cl12078
    Location:1 → 218
    p450; Cytochrome P450

  10. NM_001371704.1 → NP_001358633.1  cytochrome P450 20A1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q8WZ13
    Conserved Domains (1) summary
    cl12078
    Location:1 → 218
    p450; Cytochrome P450

  11. NM_001371705.1 → NP_001358634.1  cytochrome P450 20A1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q8WZ13
    Conserved Domains (1) summary
    cl12078
    Location:1 → 218
    p450; Cytochrome P450

  12. NM_001371706.1 → NP_001358635.1  cytochrome P450 20A1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    UniProtKB/TrEMBL
    Q8WZ13
    Conserved Domains (1) summary
    cl12078
    Location:1 → 218
    p450; Cytochrome P450

  13. NM_177538.3 → NP_803882.1  cytochrome P450 20A1 isoform 2

    See identical proteins and their annotated locations for NP_803882.1

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075
    Consensus CDS
    CCDS2357.1
    UniProtKB/Swiss-Prot
    Q4ZG61, Q6UW02, Q8N4Q8, Q8WWA9, Q9HC04
    UniProtKB/TrEMBL
    B4DLN7
    Related
    ENSP00000348380.4, ENST00000356079.9
    Conserved Domains (1) summary
    cl12078
    Location:43 → 446
    p450; Cytochrome P450

RNA

  1. NR_163981.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075

  2. NR_163982.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075

  3. NR_163983.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075

  4. NR_163984.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075

  5. NR_163985.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC011737, AC080075

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    203239018..203306026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047445157.1 → XP_047301113.1  cytochrome P450 20A1 isoform X1

    Related
    ENSP00000414831.1, ENST00000449301.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    203720529..203787984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343126.1 → XP_054199101.1  cytochrome P450 20A1 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020674.2: Suppressed sequence

    Description
    NM_020674.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UW02.1 GenPept UniProtKB/Swiss-Prot:Q6UW02

Gene LinkOut

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