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

    Gene ID: 1588, updated on 11-Apr-2024

    Summary

    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; AllianceGenome:HGNC:2594
    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]
    Expression
    Restricted expression toward placenta (RPKM 83.2) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CYP19A1 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (51208057..51338596, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (49015801..49146366, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (51500254..51630793, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MIR4713 host gene Neighboring gene TNF alpha induced protein 8 like 3 Neighboring gene uncharacterized LOC124903491 Neighboring gene uncharacterized LOC124903492 Neighboring gene Sharpr-MPRA regulatory region 3311 Neighboring gene Sharpr-MPRA regulatory regions 2939 and 12041 Neighboring gene CYP19A1 promoter II/1.3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51559063-51559696 Neighboring gene CYP19A1 promoter I.7 Neighboring gene microRNA 4713 Neighboring gene uncharacterized LOC124903493 Neighboring gene CYP19A1 promoter I.4 Neighboring gene uncharacterized LOC112268146 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:51621311-51621511 Neighboring gene microRNA 7973-1 Neighboring gene CYP19A1 promoter I.1 Neighboring gene microRNA 7973-2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:51678296-51678796 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:51682661-51683516 Neighboring gene gliomedin Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:51741640-51742839 Neighboring gene Dmx like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:51861014-51861520 Neighboring gene Sharpr-MPRA regulatory region 1269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6432

    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

    Associated conditions

    Description Tests
    Aromatase deficiency
    MedGen: C1960539 OMIM: 613546 GeneReviews: Not available
    Compare labs
    Aromatase excess syndrome
    MedGen: C1970109 OMIM: 139300 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104309

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in androgen catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in estrogen biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in female genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in female gonad development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mammary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of chronic inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of macrophage chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of estradiol secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in prostate gland growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in steroid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in syncytium formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in testosterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in uterus development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    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_001334177.1
    NP_001334178.1
    NP_001334179.1
    NP_001334180.1
    NP_001334181.1
    NP_001334182.1
    NP_001334183.1
    NP_001334184.1
    NP_001334185.1
    NP_112503.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5003..135542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000103.4NP_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, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Related
      ENSP00000379683.1, ENST00000396402.6
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    3. NM_001347249.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    4. NM_001347250.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    5. NM_001347251.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    6. NM_001347252.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    7. NM_001347253.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    8. NM_001347254.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    9. NM_001347255.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    10. NM_001347256.2NP_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
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Related
      ENSP00000453149.1, ENST00000559878.5
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1
    11. NM_031226.3NP_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, BQ024157
      Consensus CDS
      CCDS10139.1
      UniProtKB/Swiss-Prot
      P11511, Q16731, Q3B764, Q58FA0, Q8IYJ7
      UniProtKB/TrEMBL
      A8K6W3, Q45RG7, Q8IYG4
      Related
      ENSP00000379685.4, ENST00000396404.8
      Conserved Domains (1) summary
      cd20616
      Location:72485
      CYP19A1; cytochrome P450 family 19, subfamily A, polypeptide 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      51208057..51338596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      49015801..49146366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)