LOCUS       NM_004959               3074 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens nuclear receptor subfamily 5 group A member 1 (NR5A1),
            mRNA.
ACCESSION   NM_004959
VERSION     NM_004959.5
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 3074)
  AUTHORS   Kliche,J., Simonetti,L., Krystkowiak,I., Kuss,H., Diallo,M.,
            Rask,E., Nilsson,J., Davey,N.E. and Ivarsson,Y.
  TITLE     Proteome-scale characterisation of motif-based interactome rewiring
            by disease mutations
  JOURNAL   Mol Syst Biol 20 (9), 1025-1048 (2024)
   PUBMED   39009827
REFERENCE   2  (bases 1 to 3074)
  AUTHORS   Wen,F., Ding,Y., Wang,M., Du,J., Zhang,S. and Kee,K.
  TITLE     FOXL2 and NR5A1 induce human fibroblasts into steroidogenic ovarian
            granulosa-like cells
  JOURNAL   Cell Prolif 57 (5), e13589 (2024)
   PUBMED   38192172
  REMARK    GeneRIF: FOXL2 and NR5A1 induce human fibroblasts into
            steroidogenic ovarian granulosa-like cells.
REFERENCE   3  (bases 1 to 3074)
  AUTHORS   Houzelstein,D., Eozenou,C., Lagos,C.F., Elzaiat,M.,
            Bignon-Topalovic,J., Gonzalez,I., Laville,V., Schlick,L.,
            Wankanit,S., Madon,P., Kirtane,J., Athalye,A., Buonocore,F.,
            Bigou,S., Conway,G.S., Bohl,D., Achermann,J.C., Bashamboo,A. and
            McElreavey,K.
  TITLE     A conserved NR5A1-responsive enhancer regulates SRY in
            testis-determination
  JOURNAL   Nat Commun 15 (1), 2796 (2024)
   PUBMED   38555298
  REMARK    GeneRIF: A conserved NR5A1-responsive enhancer regulates SRY in
            testis-determination.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3074)
  AUTHORS   Dottermusch,M., Ryba,A., Ricklefs,F.L., Flitsch,J., Schmid,S.,
            Glatzel,M., Saeger,W., Neumann,J.E. and Schuller,U.
  TITLE     Pituitary neuroendocrine tumors with PIT1/SF1 co-expression show
            distinct clinicopathological and molecular features
  JOURNAL   Acta Neuropathol 147 (1), 16 (2024)
   PUBMED   38228887
  REMARK    GeneRIF: Pituitary neuroendocrine tumors with PIT1/SF1
            co-expression show distinct clinicopathological and molecular
            features.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3074)
  AUTHORS   Sadovsky,Y., Crawford,P.A., Woodson,K.G., Polish,J.A.,
            Clements,M.A., Tourtellotte,L.M., Simburger,K. and Milbrandt,J.
  TITLE     Mice deficient in the orphan receptor steroidogenic factor 1 lack
            adrenal glands and gonads but express P450 side-chain-cleavage
            enzyme in the placenta and have normal embryonic serum levels of
            corticosteroids
  JOURNAL   Proc Natl Acad Sci U S A 92 (24), 10939-10943 (1995)
   PUBMED   7479914
REFERENCE   6  (bases 1 to 3074)
  AUTHORS   Sasano,H., Shizawa,S., Suzuki,T., Takayama,K., Fukaya,T.,
            Morohashi,K. and Nagura,H.
  TITLE     Ad4BP in the human adrenal cortex and its disorders
  JOURNAL   J Clin Endocrinol Metab 80 (8), 2378-2380 (1995)
   PUBMED   7629233
REFERENCE   7  (bases 1 to 3074)
  AUTHORS   Taketo,M., Parker,K.L., Howard,T.A., Tsukiyama,T., Wong,M.,
            Niwa,O., Morton,C.C., Miron,P.M. and Seldin,M.F.
  TITLE     Homologs of Drosophila Fushi-Tarazu factor 1 map to mouse
            chromosome 2 and human chromosome 9q33
  JOURNAL   Genomics 25 (2), 565-567 (1995)
   PUBMED   7789992
REFERENCE   8  (bases 1 to 3074)
  AUTHORS   Shen,W.H., Moore,C.C., Ikeda,Y., Parker,K.L. and Ingraham,H.A.
  TITLE     Nuclear receptor steroidogenic factor 1 regulates the mullerian
            inhibiting substance gene: a link to the sex determination cascade
  JOURNAL   Cell 77 (5), 651-661 (1994)
   PUBMED   8205615
REFERENCE   9  (bases 1 to 3074)
  AUTHORS   Mohnach,L., Fechner,P.Y. and Keegan,C.E.
  TITLE     Nonsyndromic Disorders of Testicular Development Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301714
REFERENCE   10 (bases 1 to 3074)
  AUTHORS   Delot,E.C. and Vilain,E.J.
  TITLE     Nonsyndromic 46,XX Testicular Disorders/Differences of Sex
            Development
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301589
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC032501.1, U76388.1 and
            AK090858.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_004959.4.
            
            Summary: The protein encoded by this gene is a transcriptional
            activator involved in sex determination. The encoded protein binds
            DNA as a monomer. Defects in this gene are a cause of XY sex
            reversal with or without adrenal failure as well as adrenocortical
            insufficiency without ovarian defect. [provided by RefSeq, Jul
            2008].
            
            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 :: BC032501.1, SRR14038192.1997746.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267761, SAMN03267762
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373588.9/ ENSP00000362690.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1633              BC032501.1         22-1654
            1634-2046           U76388.1           1483-1895
            2047-3074           AK090858.1         1514-2541
FEATURES             Location/Qualifiers
     source          1..3074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..3074
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /note="nuclear receptor subfamily 5 group A member 1"
                     /db_xref="GeneID:2516"
                     /db_xref="HGNC:HGNC:7983"
                     /db_xref="MIM:184757"
     exon            1..151
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     exon            152..268
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..1552
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /note="fushi tarazu factor homolog 1; adrenal 4 binding
                     protein; steroid hormone receptor Ad4BP; steroidogenic
                     factor-1; steroidogenic factor 1 nuclear receptor; nuclear
                     receptor AdBP4; STF-1"
                     /codon_start=1
                     /product="steroidogenic factor 1"
                     /protein_id="NP_004950.2"
                     /db_xref="CCDS:CCDS6856.1"
                     /db_xref="GeneID:2516"
                     /db_xref="HGNC:HGNC:7983"
                     /db_xref="MIM:184757"
                     /translation="MDYSYDEDLDELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNN
                     KHYTCTESQSCKIDKTQRKRCPFCRFQKCLTVGMRLEAVRADRMRGGRNKFGPMYKRD
                     RALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEPKGLAAGPPAGP
                     LGDFGAPALPMAVPGAHGPLAGYLYPAFPGRAIKSEYPEPYASPPQPGLPYGYPEPFS
                     GGPNVPELILQLLQLEPDEDQVRARILGCLQEPTKSRPDQPAAFGLLCRMADQTFISI
                     VDWARRCMVFKELEVADQMTLLQNCWSELLVFDHIYRQVQHGKEGSILLVTGQEVELT
                     TVATQAGSLLHSLVLRAQELVLQLLALQLDRQEFVCLKFIILFSLDLKFLNNHILVKD
                     AQEKANAALLDYTLCHYPHCGDKFQQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNN
                     LLIEMLQAKQT"
     exon            269..410
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     exon            411..1036
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1156
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1304
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..3074
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3051..3056
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /note="hexamer: AATAAA"
     polyA_site      3074
                     /gene="NR5A1"
                     /gene_synonym="AD4BP; ELP; FTZ1; FTZF1; hSF-1; POF7; SF-1;
                     SF1; SPGF8; SRXX4; SRXY3"
                     /note="major polyA site"
ORIGIN      
        1 agcctgctgt ccggctgccg cccgccgtgg tgtgaggggg tttctgcgca cccacagtcg
       61 ccaccgtccc acctgggctg ccggagcctc cccctggacc cctggtgccc actgccaccc
      121 tcatccggtg tgagagcgct gcttccgctt cgcggacgcc gcgggcatgg actattcgta
      181 cgacgaggac ctggacgagc tgtgccccgt gtgcggggac aaggtgtccg gctaccacta
      241 cggactgctc acgtgtgaga gctgcaaggg cttcttcaag cgcacggtgc agaacaacaa
      301 gcactacacg tgcaccgaga gccagagctg caagatcgac aagacgcagc gcaagcgctg
      361 tcccttctgc cgcttccaga aatgcctgac ggtggggatg cgcctggaag ccgtgcgcgc
      421 tgaccgtatg aggggtggcc ggaacaagtt tgggccgatg tacaagcggg accgggccct
      481 gaaacagcag aagaaggcac agattcgggc caatggcttc aagctggaga cagggccccc
      541 gatgggggtg cccccgccgc cccctcccgc accggactac gtgctgcctc ccagcctgca
      601 tgggcctgag cccaagggcc tggccgccgg tccacctgct gggccactgg gcgactttgg
      661 ggccccagca ctgcccatgg ccgtgcccgg tgcccacggg ccactggctg gctacctcta
      721 ccctgccttt cctggccgtg ccatcaagtc tgagtacccg gagccttatg ccagcccccc
      781 acagcctggg ctgccgtacg gctacccaga gcccttctct ggagggccca acgtgcctga
      841 gctcatcctg cagctgctgc agctggagcc ggatgaggac caggtgcggg cccgcatctt
      901 gggctgcctg caggagccca ccaaaagccg ccccgaccag ccggcggcct tcggcctcct
      961 gtgcagaatg gccgaccaga ccttcatctc catcgtggac tgggcacgca ggtgcatggt
     1021 cttcaaggag ctggaggtgg ccgaccagat gacgctgctg cagaactgct ggagcgagct
     1081 gctggtgttc gaccacatct accgccaggt ccagcacggc aaggagggca gcatcctgct
     1141 ggtcaccggg caggaggtgg agctgaccac agtggccacc caggcgggct cgctgctgca
     1201 cagcctggtg ttgcgggcgc aggagctggt gctgcagctg cttgcgctgc agctggaccg
     1261 gcaggagttt gtctgcctca agttcatcat cctcttcagc ctggatttga agttcctgaa
     1321 taaccacatc ctggtgaaag acgctcagga gaaggccaac gccgccctgc ttgactacac
     1381 cctgtgccac tacccgcact gcggggacaa attccagcag ctgctgctgt gcctggtgga
     1441 ggtgcgggcc ctgagcatgc aggccaagga gtacctgtac cacaagcacc tgggcaacga
     1501 gatgccccgc aacaacctgc tcatcgaaat gctgcaagcc aagcagactt gagcctgggc
     1561 cgggggcggg gccgggactg ggggcgggac tgggggcggg gcctgggcgg ggccgcagcc
     1621 acaccgctgg ctccgcatgg ttcattttct gatgcccacc gaggagcccc agccccgtcc
     1681 cagaggccgc tgcccctgag ttctgacact gtgtgtttgg gaaggtgggt gaggctgggc
     1741 agggcctggc ggaggtggag tggccactgg cacttgcctg ctgcttggag tgccccaagg
     1801 aggtggctgt taaccacccg ccccgccccc tccctgctcc cagctctctc tcctggagtc
     1861 tgaagcctgc aggtccgggg aggaggttcg ggattccctg gtgggcctcg acgtcccttg
     1921 gatcagaggt catcccttcc tcctctcctg gaaacagaca gggagaagtt gagcaggtat
     1981 caactagggg aggagagagg gtctccagtg ttccccccat agagaccagg agggagagcc
     2041 tctgttttgt aaactaagga taaccgagtt tgctaaattg agaggggcta ttgggcccta
     2101 gaggacacta ggagactggt taggacaaaa agaccttctc cctagccctt ctaccccacc
     2161 tgacctctgc aagagggggc attgatacat catcgggaaa aaactttgct ccaggcatca
     2221 ctgattccct ctcccaccca aggagaacgt ttggtacaat cgacatccta gccccaccca
     2281 gaggtggccc tcccaggctg gtatttatct gcaaggttgt agtcaagagg tttttctccc
     2341 cgctttttgt ttttaagctt ctagacactc cttgaaatgt gtgtgtgatg gagggaaggg
     2401 gacagatttg aggactgaag ctggggcttg gggattgcca ctaagtacag ctgacggttt
     2461 ctccccggac actcgcctac taagtaccct tggggtggtg ctgggtcatt acttctgagc
     2521 cccagcccca atccagagaa gcgctgttgc ccgccctcca cccactaggt gaacagcagg
     2581 atgccctgtt gggggcttca ggtctctgtg ggtgggaatg caagtgaact tgggaggggg
     2641 cacgggcctg tagatcaggg atagcgctgt tgatcccctc tctgtggctc caacccgttg
     2701 ggtcccttgc tgcaaaccca tgaagctggc cctcagctcc ctgaccccct gtcctaggtc
     2761 atgaaggaca ctctgcaggg tgaagcacca gggagaggcc tcggctgtct cctgtccccg
     2821 gcggggtgcc tgctgtccgt cccgctttca tgttactgtt gcagcttgtg ctgagcctgc
     2881 ccagttggag gagactgggc acccctgcct cctgcctccc gcctcccgcc accctgtctc
     2941 agtacctccc ctccccgccc cctgaaacat gtgcccctgc caaggccgga gacccacagc
     3001 cctgaaacga gaagtgccct taaggatcac cccagccccc acagccctgg aataaatttc
     3061 gcaattagtt tcca
//
