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

    Gene ID: 57404, updated on 10-Dec-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
    mouse all
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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
    • 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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

      UniProtKB/TrEMBL
      C9J8K7
      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

      UniProtKB/TrEMBL
      C9J8K7

    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

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools