LOCUS       NM_005543                751 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens insulin like 3 (INSL3), transcript variant 2, mRNA.
ACCESSION   NM_005543
VERSION     NM_005543.4
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 751)
  AUTHORS   Lauritsen,M.P., Kristensen,T.L., Hansen,C.B., Schneider,U.V.,
            Talbot,A.L., Skytte,A.B., Petersen,J.H., Johannsen,T.H.,
            Zedeler,A., Albrethsen,J., Juul,A., Priskorn,L., Jorgensen,N.,
            Westh,H., Freiesleben,N.C. and Nielsen,H.S.
  TITLE     The impact of acute SARS-CoV-2 on testicular function including
            insulin-like factor 3 (INSL3) in men with mild COVID-19: A
            longitudinal study
  JOURNAL   Andrology 12 (2), 437-446 (2024)
   PUBMED   37421657
  REMARK    GeneRIF: The impact of acute SARS-CoV-2 on testicular function
            including insulin-like factor 3 (INSL3) in men with mild COVID-19:
            A longitudinal study.
REFERENCE   2  (bases 1 to 751)
  AUTHORS   Velatooru,L.R., Hu,C.H., Bijani,P., Wang,X., Bojaxhi,P., Chen,H.,
            Duvic,M. and Ni,X.
  TITLE     New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in Cutaneous
            T-Cell Lymphoma
  JOURNAL   Cells 12 (19), 2381 (2023)
   PUBMED   37830594
  REMARK    GeneRIF: New JAK3-INSL3 Fusion Transcript-An Oncogenic Event in
            Cutaneous T-Cell Lymphoma.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 751)
  AUTHORS   Dicke,A.K., Albrethsen,J., Hoare,B.L., Wyrwoll,M.J., Busch,A.S.,
            Fietz,D., Pilatz,A., Buhlmann,C., Juul,A., Kliesch,S., Gromoll,J.,
            Bathgate,R.A.D., Tuttelmann,F. and Stallmeyer,B.
  TITLE     Bi-allelic variants in INSL3 and RXFP2 cause bilateral
            cryptorchidism and male infertility
  JOURNAL   Hum Reprod 38 (7), 1412-1423 (2023)
   PUBMED   37208861
  REMARK    GeneRIF: Bi-allelic variants in INSL3 and RXFP2 cause bilateral
            cryptorchidism and male infertility.
REFERENCE   4  (bases 1 to 751)
  AUTHORS   Di-Luoffo,M., Pierre,K.J., Robert,N.M., Girard,M.J. and
            Tremblay,J.J.
  TITLE     The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3
            promoter in Leydig cells
  JOURNAL   Reproduction 164 (2), 31-40 (2022)
   PUBMED   35666805
  REMARK    GeneRIF: The nuclear receptors SF1 and COUP-TFII cooperate on the
            Insl3 promoter in Leydig cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 751)
  AUTHORS   Macchi,P., Villa,A., Giliani,S., Sacco,M.G., Frattini,A., Porta,F.,
            Ugazio,A.G., Johnston,J.A., Candotti,F., O'Shea,J.J. et al.
  TITLE     Mutations of Jak-3 gene in patients with autosomal severe combined
            immune deficiency (SCID)
  JOURNAL   Nature 377 (6544), 65-68 (1995)
   PUBMED   7659163
REFERENCE   6  (bases 1 to 751)
  AUTHORS   Tashima,L.S., Hieber,A.D., Greenwood,F.C. and Bryant-Greenwood,G.D.
  TITLE     The human Leydig insulin-like (hLEY I-L) gene is expressed in the
            corpus luteum and trophoblast
  JOURNAL   J Clin Endocrinol Metab 80 (2), 707-710 (1995)
   PUBMED   7852540
REFERENCE   7  (bases 1 to 751)
  AUTHORS   Kawamura,M., McVicar,D.W., Johnston,J.A., Blake,T.B., Chen,Y.Q.,
            Lal,B.K., Lloyd,A.R., Kelvin,D.J., Staples,J.E., Ortaldo,J.R. and
            O'Shea,J.J.
  TITLE     Molecular cloning of L-JAK, a Janus family protein-tyrosine kinase
            expressed in natural killer cells and activated leukocytes
  JOURNAL   Proc Natl Acad Sci U S A 91 (14), 6374-6378 (1994)
   PUBMED   8022790
REFERENCE   8  (bases 1 to 751)
  AUTHORS   Burkhardt,E., Adham,I.M., Hobohm,U., Murphy,D., Sander,C. and
            Engel,W.
  TITLE     A human cDNA coding for the Leydig insulin-like peptide (Ley I-L)
  JOURNAL   Hum Genet 94 (1), 91-94 (1994)
   PUBMED   8034302
REFERENCE   9  (bases 1 to 751)
  AUTHORS   Burkhardt,E., Adham,I.M., Brosig,B., Gastmann,A., Mattei,M.G. and
            Engel,W.
  TITLE     Structural organization of the porcine and human genes coding for a
            Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal
            localization of the human gene (INSL3)
  JOURNAL   Genomics 20 (1), 13-19 (1994)
   PUBMED   8020942
REFERENCE   10 (bases 1 to 751)
  AUTHORS   Adham,I.M., Burkhardt,E., Benahmed,M. and Engel,W.
  TITLE     Cloning of a cDNA for a novel insulin-like peptide of the
            testicular Leydig cells
  JOURNAL   J Biol Chem 268 (35), 26668-26672 (1993)
   PUBMED   8253799
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY082014.1, BC106722.1,
            BC040435.1 and AC005952.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_005543.3.
            
            Summary: This gene encodes a member of the insulin-like hormone
            superfamily. The encoded protein is mainly produced in gonadal
            tissues. Studies of the mouse counterpart suggest that this gene
            may be involved in the development of urogenital tract and female
            fertility. This protein may also act as a hormone to regulate
            growth and differentiation of gubernaculum, and thus mediating
            intra-abdominal testicular descent. Mutations in this gene may lead
            to cryptorchidism. Alternate splicing results in multiple
            transcript variants. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1. Isoform 2
            is shorter, compared to isoform 1.
            
            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 :: BG718760.1, BX359064.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317306.8/ ENSP00000321724.6
            RefSeq Select criteria :: based on expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 AY082014.1         56-63
            9-505               BC106722.1         1-497
            506-750             BC040435.1         491-735
            751-751             AC005952.2         9331-9331           c
FEATURES             Location/Qualifiers
     source          1..751
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..751
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /note="insulin like 3"
                     /db_xref="GeneID:3640"
                     /db_xref="HGNC:HGNC:6086"
                     /db_xref="MIM:146738"
     exon            1..203
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..409
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; leydig insulin -like hormone; relaxin-like
                     factor b; prepro-INSL3; leydig insulin-like peptide;
                     insulin-like 3 (Leydig cell)"
                     /codon_start=1
                     /product="insulin-like 3 isoform 2 precursor"
                     /protein_id="NP_005534.2"
                     /db_xref="CCDS:CCDS12365.1"
                     /db_xref="GeneID:3640"
                     /db_xref="HGNC:HGNC:6086"
                     /db_xref="MIM:146738"
                     /translation="MDPRLPAWALVLLGPALVFALGPAPTPEMREKLCGHHFVRALVR
                     VCGGPRWSTEARRPATGGDRELLQWLERRHLLHGLVADSNLTLGPGLQPLPQTSHHHR
                     HHRAAATNPARYCCLSGCTQQDLLTLCPY"
     exon            204..751
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      732..737
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /note="hexamer: AATAAA"
     polyA_site      751
                     /gene="INSL3"
                     /gene_synonym="ley-I-L; RLF; RLNL"
                     /note="major polyA site"
ORIGIN      
        1 gccacccacc accatggacc cccgtctgcc cgcctgggcg ctggtgctgc tgggccctgc
       61 cctggtgttc gcgttgggcc ccgcgcccac cccagagatg cgtgagaagt tgtgcggcca
      121 ccacttcgta cgcgcgctag tgcgcgtgtg cgggggcccc cgctggtcca ccgaagccag
      181 gaggcctgcg accggaggcg accgtgagtt gctacagtgg ctggagagac gacatctgct
      241 ccatgggctg gtggccgaca gtaatctcac gctgggacct ggcctgcagc ccctgcccca
      301 gacctctcac catcaccgcc accaccgtgc agctgccacc aaccctgcac gctactgctg
      361 cctcagtggc tgtacccaac aagacctgct gaccctctgt ccctactgat tcctccttgg
      421 gtgcagcctc agagtggcct gaggcccaga gggtctggtc tggtgagctc ctgaggccac
      481 acagcaccat aaagtctcgc atctacaggc ctttgattac ctcctgggat gggtgctcac
      541 tatctacccc agaccaatgc cacctgcagc ctgtggagtc aactgcagaa taaatcacac
      601 cctagccctg gcttggagga tccccgcttt cacagatgct ggacactgac agccaaatgt
      661 cctcactcca ggggagcccc agacgctccg ctccctgcat gtgtaacacc ccttcttgct
      721 gtctcttagt aaataaacga cccaaagcag c
//
