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    CYP19A1 cytochrome P450 family 19 subfamily A member 1 [ Homo sapiens (human) ]

    Gene ID: 1588, updated on 9-Jul-2017
    Official Symbol
    CYP19A1provided by HGNC
    Official Full Name
    cytochrome P450 family 19 subfamily A member 1provided by HGNC
    Primary source
    HGNC:HGNC:2594
    See related
    Ensembl:ENSG00000137869 MIM:107910; Vega:OTTHUMG00000131747
    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
    ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX; P-450AROM
    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. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
    Orthologs
    Location:
    15q21.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 15 NC_000015.10 (51208057..51338598, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51500254..51630795, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene adaptor related protein complex 4 epsilon 1 subunit Neighboring gene DDB1 and CUL4 associated factor 13 pseudogene 3 Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene microRNA 4713 Neighboring gene microRNA 7973-2 Neighboring gene microRNA 7973-1 Neighboring gene gliomedin Neighboring gene Dmx like 2

    • 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?

    Associated conditions

    Description Tests
    Aromatase deficiency
    MedGen: C0878680 OMIM: 613546 GeneReviews: Not available
    Compare labs
    Familial gynecomastia, due to increased aromatase activity
    MedGen: C1841762 OMIM: 139300 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    NHGRI GWA Catalog
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    NHGRI GWA Catalog
    Genome-wide association study of age at menarche in African-American women.
    NHGRI GWA Catalog
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    NHGRI GWA Catalog
    Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC104309

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    androgen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    estrogen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    female genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    female gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of chronic inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of macrophage chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of estradiol secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    steroid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    testosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    uterus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    aromatase
    Names
    cytochrome P-450AROM
    cytochrome P450 19A1
    cytochrome P450, family 19, subfamily A, polypeptide 1
    cytochrome P450, subfamily XIX (aromatization of androgens)
    estrogen synthase
    estrogen synthetase
    flavoprotein-linked monooxygenase
    microsomal monooxygenase
    NP_000094.2
    NP_112503.1
    XP_005254248.1

    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_007982.1 RefSeqGene

      Range
      5001..135542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000103.3NP_000094.2  aromatase

      See identical proteins and their annotated locations for NP_000094.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the use of an alternate promoter and contains an alternate 5' exon (I.1), compared to variant 4. All variants encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence, initiates from an LTR promoter and results in placenta-specific expression. (PMID: 19577618)
      Source sequence(s)
      AC012169, BC022896, BC035959, BG621764, BQ024157, DA853862, Y07508
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8, Q8IYG4, Q8TCA4
      Related
      ENSP00000379683.1, OTTHUMP00000162543, ENST00000396402.5, OTTHUMT00000254669
      Conserved Domains (1) summary
      pfam00067
      Location:48485
      p450; Cytochrome P450
    2. NM_001347248.1NP_001334177.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the use of an alternate promoter and contains an alternate 5' terminal exon (2a), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in placenta.
      Source sequence(s)
      AC012169, AC020891, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    3. NM_001347249.1NP_001334178.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript. It represents the use of an alternate promoter and contains alternate 5' terminal exon (I.4). All variants encode the same protein. Expression of this variant has been found in adipose tissue.
      Source sequence(s)
      AC012169, AC020891, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    4. NM_001347250.1NP_001334179.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.5), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in fetal tissue.
      Source sequence(s)
      AC012169, AC020891, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    5. NM_001347251.1NP_001334180.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.7), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in endothelial cells and in breast cancer.
      Source sequence(s)
      AC012169, AC020891, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    6. NM_001347252.1NP_001334181.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.f), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in the brain.
      Source sequence(s)
      AC012169, AC020891, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    7. NM_001347253.1NP_001334182.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) represents the use of an alternate promoter and contains alternate 5' terminal exon (I.2), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in the placenta and adipose tissue.
      Source sequence(s)
      AC012169, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    8. NM_001347254.1NP_001334183.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) represents the use of an alternate promoter and contains the alternate 5' terminal exon (I.6), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in bones.
      Source sequence(s)
      AC012169, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    9. NM_001347255.1NP_001334184.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) represents the use of an alternate promoter and contains the alternate 5' terminal exon (I.3), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in adipose tissue and in breast cancer.
      Source sequence(s)
      AC012169, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    10. NM_001347256.1NP_001334185.1  aromatase

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) represents the use of an alternate promoter and contains an alternate 5' terminal exon (PII), compared to variant 4. All variants encode the same protein. Expression of this variant has been found in gonads and in breast cancer.
      Source sequence(s)
      AC012169, BQ024157
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8
    11. NM_031226.2NP_112503.1  aromatase

      See identical proteins and their annotated locations for NP_112503.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the use of an alternate promoter and contains alternate 5' exons (I.1 and 2a), compared to variant 4. All variants encode the same protein. The 5' end of this transcript contains long terminal repeat (LTR) sequence, initiates from an LTR promoter and results in placenta-specific expression. (PMID: 19577618)
      Source sequence(s)
      AC012169, AK291778, BC020767, BC022896, BQ024157
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511
      UniProtKB/TrEMBL
      A0A024R5S8, A8K6W3, Q05CU4, Q8TCA4
      Related
      ENSP00000379685.4, OTTHUMP00000198352, ENST00000396404.8, OTTHUMT00000319759
      Conserved Domains (1) summary
      pfam00067
      Location:48485
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p7 Primary Assembly

      Range
      51208057..51338598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254191.1XP_005254248.1  aromatase isoform X1

      Related
      ENSP00000453149.1, OTTHUMP00000248514, ENST00000559878.5, OTTHUMT00000418741
      Conserved Domains (1) summary
      pfam00067
      Location:48485
      p450; Cytochrome P450

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      51618344..51748904 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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