LOCUS       NM_002196               2846 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens INSM transcriptional repressor 1 (INSM1), mRNA.
ACCESSION   NM_002196
VERSION     NM_002196.3
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 2846)
  AUTHORS   Wang,X.Q., Fu,J., Zhang,Y.T. and Xu,Y.
  TITLE     INSM1 expression in primary and metastatic neuroendocrine neoplasms
            at distinct locations
  JOURNAL   Pathol Res Pract 253, 155067 (2024)
   PUBMED   38171081
  REMARK    GeneRIF: INSM1 expression in primary and metastatic neuroendocrine
            neoplasms at distinct locations.
REFERENCE   2  (bases 1 to 2846)
  AUTHORS   Lenz,J., Klubickova,N., Ptakova,N., Hajkova,V., Grossmann,P.,
            Steiner,P., Kinkor,Z., Svajdler,M., Michal,M., Konecna,P.,
            Machacova,D., Hurnik,P., Tichy,M., Tichy,F., Kyllar,M., Fiala,L.,
            Kavka,M. and Michal,M.
  TITLE     Extraskeletal myxoid chondrosarcoma: A study of 17 cases focusing
            on the diagnostic utility of INSM1 expression and presenting rare
            morphological variants associated with non-EWSR1::NR4A3 fusions
  JOURNAL   Hum Pathol 134, 19-29 (2023)
   PUBMED   36563884
  REMARK    GeneRIF: Extraskeletal myxoid chondrosarcoma: A study of 17 cases
            focusing on the diagnostic utility of INSM1 expression and
            presenting rare morphological variants associated with
            non-EWSR1::NR4A3 fusions.
REFERENCE   3  (bases 1 to 2846)
  AUTHORS   Kuji,S., Endo,A., Kubota,M., Uekawa,A., Kawakami,F., Mikami,Y.,
            Koike,J. and Suzuki,N.
  TITLE     Immunosensitivity and specificity of insulinoma-associated protein
            1 (INSM1) for neuroendocrine neoplasms of the uterine cervix
  JOURNAL   J Gynecol Oncol 34 (1), e1 (2023)
   PUBMED   36245222
  REMARK    GeneRIF: Immunosensitivity and specificity of insulinoma-associated
            protein 1 (INSM1) for neuroendocrine neoplasms of the uterine
            cervix.
REFERENCE   4  (bases 1 to 2846)
  AUTHORS   Zhang,Q., Dong,Y., Zhou,M., Guo,Y., Lou,L., Qu,Z., Zheng,Y. and
            Duan,Y.
  TITLE     INSM1 Expression in Mesenchymal Tumors and Its Clinicopathological
            Significance
  JOURNAL   Biomed Res Int 2022, 1580410 (2022)
   PUBMED   36531655
  REMARK    GeneRIF: INSM1 Expression in Mesenchymal Tumors and Its
            Clinicopathological Significance.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2846)
  AUTHORS   Kashima,J., Hashimoto,T., Yoshida,A., Goto,Y., Ushiku,T., Ohe,Y.,
            Watanabe,S.I. and Yatabe,Y.
  TITLE     Insulinoma-associated-1 (INSM1) expression in thymic squamous cell
            carcinoma
  JOURNAL   Virchows Arch 481 (6), 893-901 (2022)
   PUBMED   36305944
  REMARK    GeneRIF: Insulinoma-associated-1 (INSM1) expression in thymic
            squamous cell carcinoma.
REFERENCE   6  (bases 1 to 2846)
  AUTHORS   Breslin,M.B., Zhu,M., Notkins,A.L. and Lan,M.S.
  TITLE     Neuroendocrine differentiation factor, IA-1, is a transcriptional
            repressor and contains a specific DNA-binding domain:
            identification of consensus IA-1 binding sequence
  JOURNAL   Nucleic Acids Res 30 (4), 1038-1045 (2002)
   PUBMED   11842116
REFERENCE   7  (bases 1 to 2846)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   8  (bases 1 to 2846)
  AUTHORS   Li,Q., Notkins,A.L. and Lan,M.S.
  TITLE     Molecular characterization of the promoter region of a
            neuroendocrine tumor marker, IA-1
  JOURNAL   Biochem Biophys Res Commun 236 (3), 776-781 (1997)
   PUBMED   9245732
REFERENCE   9  (bases 1 to 2846)
  AUTHORS   Lan,M.S., Li,Q., Lu,J., Modi,W.S. and Notkins,A.L.
  TITLE     Genomic organization, 5'-upstream sequence, and chromosomal
            localization of an insulinoma-associated intronless gene, IA-1
  JOURNAL   J Biol Chem 269 (19), 14170-14174 (1994)
   PUBMED   8188699
REFERENCE   10 (bases 1 to 2846)
  AUTHORS   Goto,Y., De Silva,M.G., Toscani,A., Prabhakar,B.S., Notkins,A.L.
            and Lan,M.S.
  TITLE     A novel human insulinoma-associated cDNA, IA-1, encodes a protein
            with 'zinc-finger' DNA-binding motifs
  JOURNAL   J Biol Chem 267 (21), 15252-15257 (1992)
   PUBMED   1634555
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161658.21.
            
            On Nov 22, 2018 this sequence version replaced NM_002196.2.
            
            Summary: Insulinoma-associated 1 (INSM1) gene is intronless and
            encodes a protein containing both a zinc finger DNA-binding domain
            and a putative prohormone domain. This gene is a sensitive marker
            for neuroendocrine differentiation of human lung tumors. [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 is intronless :: M93119.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310227.3/ ENSP00000312631.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2846              AL161658.21        34661-37506
FEATURES             Location/Qualifiers
     source          1..2846
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p11.23"
     gene            1..2846
                     /gene="INSM1"
                     /gene_synonym="IA-1; IA1"
                     /note="INSM transcriptional repressor 1"
                     /db_xref="GeneID:3642"
                     /db_xref="HGNC:HGNC:6090"
                     /db_xref="MIM:600010"
     exon            1..2846
                     /gene="INSM1"
                     /gene_synonym="IA-1; IA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..1697
                     /gene="INSM1"
                     /gene_synonym="IA-1; IA1"
                     /note="zinc finger protein IA-1; insulinoma-associated 1"
                     /codon_start=1
                     /product="insulinoma-associated protein 1"
                     /protein_id="NP_002187.1"
                     /db_xref="CCDS:CCDS13143.1"
                     /db_xref="GeneID:3642"
                     /db_xref="HGNC:HGNC:6090"
                     /db_xref="MIM:600010"
                     /translation="MPRGFLVKRSKKSTPVSYRVRGGEDGDRALLLSPSCGGARAEPP
                     APSPVPGPLPPPPPAERAHAALAAALACAPGPQPPPQGPRAAHFGNPEAAHPAPLYSP
                     TRPVSREHEKHKYFERSFNLGSPVSAESFPTPAALLGGGGGGGASGAGGGGTCGGDPL
                     LFAPAELKMGTAFSAGAEAARGPGPGPPLPPAAALRPPGKRPPPPTAAEPPAKAVKAP
                     GAKKPKAIRKLHFEDEVTTSPVLGLKIKEGPVEAPRGRAGGAARPLGEFICQLCKEEY
                     ADPFALAQHKCSRIVRVEYRCPECAKVFSCPANLASHRRWHKPRPAPAAARAPEPEAA
                     ARAEAREAPGGGSDRDTPSPGGVSESGSEDGLYECHHCAKKFRRQAYLRKHLLAHHQA
                     LQAKGAPLAPPAEDLLALYPGPDEKAPQEAAGDGEGAGVLGLSASAECHLCPVCGESF
                     ASKGAQERHLRLLHAAQVFPCKYCPATFYSSPGLTRHINKCHPSENRQVILLQVPVRP
                     AC"
     regulatory      2824..2829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSM1"
                     /gene_synonym="IA-1; IA1"
                     /note="hexamer: AATAAA"
     polyA_site      2846
                     /gene="INSM1"
                     /gene_synonym="IA-1; IA1"
                     /note="major polyA site"
ORIGIN      
        1 acagggacgc gcgtgcaggg cgcagagctg ggccgagccg tcgccggcgc cacgcgagtc
       61 ccgcagccgc cgcgcccggg caatgggccg ggggcactga gggccgccgg ggccgagcgc
      121 ggagggggga ccgagccagt gccgtgccct cgggccgcgc caacatgccc cgcggcttcc
      181 tggtgaagcg cagcaagaag tccacgcccg tttcctaccg ggtccgcggc ggcgaggacg
      241 gcgaccgcgc actgctgctc tcgcccagct gcgggggcgc ccgcgccgag cccccggcgc
      301 cgagcccggt ccccgggccg ctgccgccgc cgccgcccgc ggagcgcgcc catgcagcgc
      361 tcgccgccgc gcttgcctgc gcgcctgggc cgcagccacc cccgcagggc ccgcgggccg
      421 cgcacttcgg caaccccgag gctgcgcacc ccgcgccgct ctacagtccc acgcggcccg
      481 tgagccgcga gcacgagaag cacaagtact tcgaacgcag cttcaacctg ggctcgccgg
      541 tctcggccga gtccttcccc acgcccgccg cgctgctcgg agggggcggc ggcggcggcg
      601 cgagcggagc tggcggaggc ggcacctgcg gcggcgaccc gctgctcttc gcgcccgccg
      661 agctcaagat gggcacggcg ttctcggctg gcgccgaggc ggcccgcggc ccgggccccg
      721 gccccccact gccccctgcc gccgccctgc ggcccccggg aaagcggccc ccgcccccta
      781 ccgccgcgga gccgcccgcc aaggcagtca aggccccggg cgccaagaag cccaaggcca
      841 tccgcaagct gcacttcgag gacgaggtga ccacgtcgcc cgtgctgggg ctcaagatca
      901 aggagggccc ggtggaggcg ccgcggggcc gcgcgggggg cgcggcgcgg ccgctgggcg
      961 agttcatctg ccagctgtgc aaggaggagt acgccgaccc gttcgcgctg gcgcagcaca
     1021 aatgctcgcg catcgtgcgt gtggagtacc gctgtcccga gtgcgccaag gtcttcagct
     1081 gcccggccaa cctggcctcg caccgccgct ggcacaaacc gcggcccgcg cccgccgccg
     1141 cccgcgcgcc ggagccagaa gcagcagcca gggctgaggc gcgggaggca cccggcggcg
     1201 gcagcgaccg ggacacgccg agccccggcg gcgtgtccga gtcgggctcc gaggacgggc
     1261 tctacgagtg ccatcactgc gccaagaagt tccgccgcca ggcctaccta cgcaagcacc
     1321 tgctggcgca ccaccaggcg ctgcaggcca agggcgcgcc gctagcgccc ccggccgagg
     1381 acctactggc cttgtacccc gggcccgacg agaaggcgcc ccaggaggcg gccggcgacg
     1441 gcgagggggc cggcgtgctg ggcctgagtg cgtccgccga gtgccacctg tgcccagtgt
     1501 gcggagagtc gttcgccagc aagggcgctc aggagcgcca cctgcgcctg ctgcacgccg
     1561 cccaggtgtt cccctgcaag tactgcccgg ccaccttcta cagctcgccc ggccttacgc
     1621 ggcacatcaa caagtgccac ccatccgaaa acagacaggt gatcctcctg caggtgcccg
     1681 tgcgcccggc ctgctagagc gcgccctcca ccccggcccc cgaactgtgc cttcgcttgg
     1741 agacccacaa agagagtgcg ccctgcactc cccgaacccg agtccgcgct gggggagcct
     1801 cgcccccgcc cccaccgggt gaaagtgtcg tctccgcttc tctcggtgtg gcgtgacggt
     1861 aaccccatac tctccttttg actccttttg gaacccccac ttttacgttg tgtccctccg
     1921 cctcccccat ggcgcaacag gagtcagtct ctttctgtac aagggagaaa agctgtacgc
     1981 gtttgtctcg tggttggaag cctccccttg gcggggagaa gctttttttc ttgctagtat
     2041 tcgctgtgtt catggtctag aaatgcggtc tggtctcgcc tcgcctacca atctctgctc
     2101 tctatgtatg tagcgtacgg gttgttttgg gtgaatcttg aggaataaat gcctttatat
     2161 ttcacaggct gtaaattgaa cttcccacac gattagcttt attatggctt gtgaactgct
     2221 ggagtctggc tttacctttt tgtatgtgaa caaatcaaat tgcttaaaaa agagttttct
     2281 ttagtatagc cacaaatgcc ttgaactgtt gtctgggatt gttttgtggg gggagggaag
     2341 ggagtgttcc gaagatgctg tagtaactgc ctcagtgttt cacgtaagac tttttggttt
     2401 gatcatcttt gttgaggtag gactatcagt tccctctaaa tgtatatgtt gatttatgag
     2461 taattgttat ttattcttta tttatttata ttaattatga agattatgat attatttgat
     2521 tgcagatttt tttggcgcgc tgccccctcc ccaccctgcc actcttgaca ttccactgtg
     2581 cgttttagaa gagagccttt ttctaaaggg atctgcttaa agttttaact tttataccta
     2641 tctgagtgaa ttacagacaa cctatcattt attctgcttc gagggtcccc agggcccttg
     2701 tacaaccgac agctcttact tttaaatgca atctcttttc tacatacatt attttcttaa
     2761 ttgttagcta tttatagaaa gcttcaatag aactgtttca actgtataac tatttactat
     2821 tcaaataaaa tattttcaaa gtcaaa
//
