LOCUS       NM_000103               4403 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens cytochrome P450 family 19 subfamily A member 1
            (CYP19A1), transcript variant 1, mRNA.
ACCESSION   NM_000103
VERSION     NM_000103.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4403)
  AUTHORS   Liang,J., Li,Y., Wan,P., Zhang,W., Han,J., Zhang,M., Li,B. and
            Jin,T.
  TITLE     CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han
            population
  JOURNAL   Expert Rev Mol Diagn 24 (8), 743-752 (2024)
   PUBMED   39086208
  REMARK    GeneRIF: CYP19A1 polymorphisms and bladder cancer risk in the
            Chinese Han population.
REFERENCE   2  (bases 1 to 4403)
  AUTHORS   Hackett,J.C., Krueger,S., Urban,V.S. and Zarate-Perez,F.
  TITLE     Small angle scattering reveals the orientation of cytochrome P450
            19A1 in lipoprotein nanodiscs
  JOURNAL   J Inorg Biochem 257, 112579 (2024)
   PUBMED   38703512
  REMARK    GeneRIF: Small angle scattering reveals the orientation of
            cytochrome P450 19A1 in lipoprotein nanodiscs.
REFERENCE   3  (bases 1 to 4403)
  AUTHORS   Kotomura,N., Shimono,Y. and Ishihara,S.
  TITLE     CYP19A1 Expression Is Controlled by mRNA Stability of the Upstream
            Transcription Factor AP-2gamma in Placental JEG3 Cells
  JOURNAL   Endocrinology 165 (6) (2024)
   PUBMED   38717933
  REMARK    GeneRIF: CYP19A1 Expression Is Controlled by mRNA Stability of the
            Upstream Transcription Factor AP-2gamma in Placental JEG3 Cells.
REFERENCE   4  (bases 1 to 4403)
  AUTHORS   Gunther,J., Schuler,G., Teppa,E. and Furbass,R.
  TITLE     Charged Amino Acids in the Transmembrane Helix Strongly Affect the
            Enzyme Activity of Aromatase
  JOURNAL   Int J Mol Sci 25 (3), 1440 (2024)
   PUBMED   38338720
  REMARK    GeneRIF: Charged Amino Acids in the Transmembrane Helix Strongly
            Affect the Enzyme Activity of Aromatase.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4403)
  AUTHORS   Zhao,H., Zhou,L., Shangguan,A.J. and Bulun,S.E.
  TITLE     Aromatase expression and regulation in breast and endometrial
            cancer
  JOURNAL   J Mol Endocrinol 57 (1), R19-R33 (2016)
   PUBMED   27067638
  REMARK    Review article
REFERENCE   6  (bases 1 to 4403)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 4403)
  AUTHORS   Harada,N.
  TITLE     A unique aromatase (P-450AROM) mRNA formed by alternative use of
            tissue-specific exons 1 in human skin fibroblasts
  JOURNAL   Biochem Biophys Res Commun 189 (2), 1001-1007 (1992)
   PUBMED   1472013
REFERENCE   8  (bases 1 to 4403)
  AUTHORS   Harada,N., Ogawa,H., Shozu,M., Yamada,K., Suhara,K., Nishida,E. and
            Takagi,Y.
  TITLE     Biochemical and molecular genetic analyses on placental aromatase
            (P-450AROM) deficiency
  JOURNAL   J Biol Chem 267 (7), 4781-4785 (1992)
   PUBMED   1371509
REFERENCE   9  (bases 1 to 4403)
  AUTHORS   Kilgore,M.W., Means,G.D., Mendelson,C.R. and Simpson,E.R.
  TITLE     Alternative promotion of aromatase P-450 expression in the human
            placenta
  JOURNAL   Mol Cell Endocrinol 83 (1), R9-R16 (1992)
   PUBMED   1372568
REFERENCE   10 (bases 1 to 4403)
  AUTHORS   Means,G.D., Kilgore,M.W., Mahendroo,M.S., Mendelson,C.R. and
            Simpson,E.R.
  TITLE     Tissue-specific promoters regulate aromatase cytochrome P450 gene
            expression in human ovary and fetal tissues
  JOURNAL   Mol Endocrinol 5 (12), 2005-2013 (1991)
   PUBMED   1724289
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022896.1, DA853862.1,
            Y07508.1, BG621764.1, BC035959.1, AC012169.8 and BQ024157.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_000103.3.
            
            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].
            
            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).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14372080.4391063.1,
                                           SRR14372079.2640093.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396402.6/ ENSP00000379683.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-102               BC022896.1         5-106
            103-322             DA853862.1         346-565
            323-1670            Y07508.1           232-1579
            1671-2108           BG621764.1         69-506
            2109-2985           BC035959.1         2108-2984
            2986-4163           AC012169.8         112266-113443       c
            4164-4403           BQ024157.1         18-257              c
FEATURES             Location/Qualifiers
     source          1..4403
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.2"
     gene            1..4403
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="cytochrome P450 family 19 subfamily A member 1"
                     /db_xref="GeneID:1588"
                     /db_xref="HGNC:HGNC:2594"
                     /db_xref="MIM:107910"
     exon            1..102
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            103..285
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..1652
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /EC_number="1.14.14.14"
                     /note="microsomal monooxygenase; flavoprotein-linked
                     monooxygenase; estrogen synthetase; cytochrome P450,
                     family 19, subfamily A, polypeptide 1; cytochrome P450,
                     subfamily XIX (aromatization of androgens); cytochrome
                     P450 19A1; estrogen synthase; cytochrome P-450AROM"
                     /codon_start=1
                     /product="aromatase"
                     /protein_id="NP_000094.2"
                     /db_xref="CCDS:CCDS10139.1"
                     /db_xref="GeneID:1588"
                     /db_xref="HGNC:HGNC:2594"
                     /db_xref="MIM:107910"
                     /translation="MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGT
                     SSIPGPGYCMGIGPLISHGRFLWMGIGSACNYYNRVYGEFMRVWISGEETLIISKSSS
                     MFHIMKHNHYSSRFGSKLGLQCIGMHEKGIIFNNNPELWKTTRPFFMKALSGPGLVRM
                     VTVCAESLKTHLDRLEEVTNESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQ
                     GYFDAWQALLIKPDIFFKISWLYKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECM
                     DFATELILAEKRGDLTRENVNQCILEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIK
                     EIQTVIGERDIKIDDIQKLKVMENFIYESMRYQPVVDLVMRKALEDDVIDGYPVKKGT
                     NIILNIGRMHRLEFFPKPNEFTLENFAKNVPYRYFQPFGFGPRGCAGKYIAMVMMKAI
                     LVTLLRRFHVKTLQGQCVESIQKIHDLSLHPDETKNMLEMIFTPRNSDRCLEH"
     exon            286..436
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            437..591
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            592..768
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            769..883
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            884..998
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            999..1161
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..1403
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..4403
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2963..2968
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="hexamer: ATTAAA"
     polyA_site      2988
                     /gene="CYP19A1"
                     /gene_synonym="ARO; ARO1; CPV1; CYAR; CYP19; CYPXIX;
                     P-450AROM"
                     /note="major polyA site"
ORIGIN      
        1 gagtttctgg agggctgaac acgtggaggc aaacaggaag gtgaagaaga acttatccta
       61 tcaggacgga aggtcctgtg ctcgggatct tccagacgtc gcgactctaa attgccccct
      121 ctgaggtcaa ggaacacaag atggttttgg aaatgctgaa cccgatacat tataacatca
      181 ccagcatcgt gcctgaagcc atgcctgctg ccaccatgcc agtcctgctc ctcactggcc
      241 tttttctctt ggtgtggaat tatgagggca catcctcaat accaggtcct ggctactgca
      301 tgggaattgg acccctcatc tcccacggca gattcctgtg gatggggatc ggcagtgcct
      361 gcaactacta caaccgggta tatggagaat tcatgcgagt ctggatctct ggagaggaaa
      421 cactcattat cagcaagtcc tcaagtatgt tccacataat gaagcacaat cattacagct
      481 ctcgattcgg cagcaaactt gggctgcagt gcatcggtat gcatgagaaa ggcatcatat
      541 ttaacaacaa tccagagctc tggaaaacaa ctcgaccctt ctttatgaaa gctctgtcag
      601 gccccggcct tgttcgtatg gtcacagtct gtgctgaatc cctcaaaaca catctggaca
      661 ggttggagga ggtgaccaat gaatcgggct atgtggacgt gttgaccctt ctgcgtcgtg
      721 tcatgctgga cacctctaac acgctcttct tgaggatccc tttggacgaa agtgctatcg
      781 tggttaaaat ccaaggttat tttgatgcat ggcaagctct cctcatcaaa ccagacatct
      841 tctttaagat ttcttggcta tacaaaaagt atgagaagtc tgtcaaggat ttgaaagatg
      901 ccatagaagt tctgatagca gaaaaaagac gcaggatttc cacagaagag aaactggaag
      961 aatgtatgga ctttgccact gagttgattt tagcagagaa acgtggtgac ctgacaagag
     1021 agaatgtgaa ccagtgcata ttggaaatgc tgatcgcagc tcctgacacc atgtctgtct
     1081 ctttgttctt catgctattt ctcattgcaa agcaccctaa tgttgaagag gcaataataa
     1141 aggaaatcca gactgttatt ggtgagagag acataaagat tgatgatata caaaaattaa
     1201 aagtgatgga aaacttcatt tatgagagca tgcggtacca gcctgtcgtg gacttggtca
     1261 tgcgcaaagc cttagaagat gatgtaatcg atggctaccc agtgaaaaag gggacaaaca
     1321 ttatcctgaa tattggaagg atgcacagac tcgagttttt ccccaaaccc aatgaattta
     1381 ctcttgaaaa ttttgcaaag aatgttcctt ataggtactt tcagccattt ggctttgggc
     1441 cccgtggctg tgcaggaaag tacatcgcca tggtgatgat gaaagccatc ctcgttacac
     1501 ttctgagacg attccacgtg aagacattgc aaggacagtg tgttgagagc atacagaaga
     1561 tacacgactt gtccttgcac ccagatgaga ctaaaaacat gctggaaatg atctttaccc
     1621 caagaaactc agacaggtgt ctggaacact agagaaggct ggtcagtacc cactctggag
     1681 catttctcat cagtagttca catacaaatc atccatcctt gccaatagtg tcatcctcac
     1741 agtgaacact cagtggccca tggcatttta taggcatacc tcctatgggt tgtcaccaag
     1801 ctaggtgcta tttgtcatct gctcctgttc acaccagaga accaggctac aagagaaaaa
     1861 gcagaggcca agagtttgag ggagaaatag tcggtgaaga aaccgtatcc ataaagaccc
     1921 gattccacca aatgtgcttt gagaaggata ggccttcatt aacaaaatgt atgtctggtt
     1981 ccccagtaga gctctactgc ctcaacccaa ggggattttt atgtctgggg cagaaacact
     2041 caagttgatt agaaagacca ggccaatgtc agggtacctg gggccaaacc cacctgctag
     2101 tgtgaattaa agtactttaa ttttgttttc tgtggaggtg gaaaagcaac attcatagtc
     2161 tttggagaaa tgcttagaaa ttcagcattt gacccttgct gtgaattaag cccaattaat
     2221 tcctgtttgt ctacatatga tctgtctgtg gcaaaagttt aatcagagga aattctttcc
     2281 cagtctgtcg atttatgcct cagccacttg cctgtgctac aattcattgt gttacctgta
     2341 gattcaggta atacaaacta tatataatca tcaagtaata caaactaatt tagtaatagc
     2401 ctgggttaag tattattagg gccctgtgtc tgctgtagaa aaaaaaattc acatgatgca
     2461 cttcaaattc aaataaaaat ccttttggca tgttcccatt tttgcttagc tcaattagtg
     2521 tggctaacca agagataact gtaaatgtga cattgatttg ctcttactac agcttcagtg
     2581 attgggggag gaaaagtccc aacccaatgg gctcaaactt ctaaggggta ctcctctcat
     2641 ccccttatcc ttctccctcg acattttctc cctctttctt cccatgaccc caaagccaag
     2701 ggcaacagat cagtaaagaa cgtggtcaga gtagaacccc tgaagtattt tttaatccta
     2761 cctcaaaatt taacagttac ctgagagatt taacattatc tagttcattg aatcattgta
     2821 tgtggtcatg gataaattgc acaccttgga attcgctttc taaaggaaat caaatgaatg
     2881 gaggaacttt ccaaacacca ctttacttgt gttatatagc caatataact atctctactg
     2941 aatgtcattg aaaaactaaa aaattaaact tatttacaaa taggtaaata tttgtcattg
     3001 aatccattgc catcccattt gactgttctt ttcatcctac tgtctagtaa taagctgagt
     3061 ataagatgac agtgtaatct ccctgaaagc aggagctact ttctttcttt tgtaatctat
     3121 ttccatcccc atttccctgt cctgtctccc tgtattcact cccaagctca gttctgaata
     3181 gacattcctg ctcagagata ctcccaactg atgcagaaac caaataaaga ggtaggtatt
     3241 ccaagaattc aagaatggac attagtaaag aataaaacat ttatttgagc ttggaattat
     3301 ttggatcatc tatatggcct aaaaatatat ggactatgcc tgtgtacctg aatacgtatg
     3361 tagtcaggtc aagacaatca tccaaataac ttagacccct aaaagcaagg ccaggatttg
     3421 caatttaatg tgtcccaatt aattcacttg aaaattagta acactctgtt tacgttgcct
     3481 ctggctggag ctgcatggtg gaagaagccc aactttggat ccatgtactt cacccatcca
     3541 atactcttgg gacatttatg tgtattttat ctgtatatat gaagccaatg tctatgtcta
     3601 cacagtcaaa gtgaaatgca tgtttgatat agctgtacat agatatctat tttgcaggta
     3661 caaaaatatc ctgggggaaa actgggagtg gaagggtggg gggtgggagt gagggacatg
     3721 ggggagggac aggaagagga gaagtgttgg tttgaacgat ccaagcaaac tctcccagaa
     3781 tcaaattacc tgggtagttg ttcaactttt cactctgctt agcctgtata gacaaacccc
     3841 atatatttgt agaggcttgg ccttggaatt ctggaatacc attggctttt cagtaggctg
     3901 atgaacacat tttgaaaatt ctattatctt cagaattttg ccccattgtt aagtgcttaa
     3961 ccgtcactct tgaatgtgca atgtgctgtg gattccattt tcatcagttc tgaaagaact
     4021 gcaatgtgta aattatcagt gaaatgcatg catataaggg ctctatcatt atcaaattgt
     4081 aaggacaatt gtacccttct atatctttgg gcatgctaga cacccccatg ccttcattga
     4141 gatcccattt tccccctctc aagtggaaaa taatcacatc cagcaagctc tctcattatt
     4201 gagaaatacc atttggaaat tgccactttt tattcctaag cagcaccttt cactgttcat
     4261 gatgctaatg ttccacaaaa gcatgtgcca ttggcccact gaaggataga gggacccttt
     4321 tcaatctata tcagctgggc tctgggactg aatctctcac ctattcttgc agaaagacat
     4381 actaattaaa ccttgtcaaa gta
//
