LOCUS       NM_002202               2394 bp    mRNA    linear   PRI 03-MAY-2024
DEFINITION  Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.
ACCESSION   NM_002202
VERSION     NM_002202.3
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 2394)
  AUTHORS   Maven,B.E.J., Gifford,C.A., Weilert,M., Gonzalez-Teran,B.,
            Huttenhain,R., Pelonero,A., Ivey,K.N., Samse-Knapp,K., Kwong,W.,
            Gordon,D., McGregor,M., Nishino,T., Okorie,E., Rossman,S.,
            Costa,M.W., Krogan,N.J., Zeitlinger,J. and Srivastava,D.
  TITLE     The multi-lineage transcription factor ISL1 controls cardiomyocyte
            cell fate through interaction with NKX2.5
  JOURNAL   Stem Cell Reports 18 (11), 2138-2153 (2023)
   PUBMED   37863045
  REMARK    GeneRIF: The multi-lineage transcription factor ISL1 controls
            cardiomyocyte cell fate through interaction with NKX2.5.
REFERENCE   2  (bases 1 to 2394)
  AUTHORS   Piras,M., Coni,P., Piludu,M., Coni,S., Lachowicz,J.I., Jaremko,M.,
            Faa,G., Cau,F., Scano,A., Orru,G., Murru,R. and Pichiri,G.
  TITLE     Human breast milk cells are positive for the pioneer transcription
            factor ISL1
  JOURNAL   Eur Rev Med Pharmacol Sci 27 (18), 8842-8849 (2023)
   PUBMED   37782193
  REMARK    GeneRIF: Human breast milk cells are positive for the pioneer
            transcription factor ISL1.
REFERENCE   3  (bases 1 to 2394)
  AUTHORS   Hsu,Y.H., Pintacuda,G., Liu,R., Nacu,E., Kim,A., Tsafou,K.,
            Petrossian,N., Crotty,W., Suh,J.M., Riseman,J., Martin,J.M.,
            Biagini,J.C., Mena,D., Ching,J.K.T., Malolepsza,E., Li,T.,
            Singh,T., Ge,T., Egri,S.B., Tanenbaum,B., Stanclift,C.R.,
            Apffel,A.M., Carr,S.A., Schenone,M., Jaffe,J., Fornelos,N.,
            Huang,H., Eggan,K.C. and Lage,K.
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium;
            Stanley Global Asia Initiatives
  TITLE     Using brain cell-type-specific protein interactomes to interpret
            neurodevelopmental genetic signals in schizophrenia
  JOURNAL   iScience 26 (5), 106701 (2023)
   PUBMED   37207277
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2394)
  AUTHORS   Yin,X.Y., Chen,H.X., Chen,Z., Yang,Q., Han,J. and He,G.W.
  TITLE     Genetic Variants of ISL1 Gene Promoter Identified from Congenital
            Tetralogy of Fallot Patients Alter Cellular Function Forming
            Disease Basis
  JOURNAL   Biomolecules 13 (2), 358 (2023)
   PUBMED   36830727
  REMARK    GeneRIF: Genetic Variants of ISL1 Gene Promoter Identified from
            Congenital Tetralogy of Fallot Patients Alter Cellular Function
            Forming Disease Basis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2394)
  AUTHORS   Pintacuda,G., Hsu,Y.H., Tsafou,K., Li,K.W., Martin,J.M.,
            Riseman,J., Biagini,J.C., Ching,J.K.T., Mena,D.,
            Gonzalez-Lozano,M.A., Egri,S.B., Jaffe,J., Smit,A.B., Fornelos,N.,
            Eggan,K.C. and Lage,K.
  TITLE     Protein interaction studies in human induced neurons indicate
            convergent biology underlying autism spectrum disorders
  JOURNAL   Cell Genom 3 (3), 100250 (2023)
   PUBMED   36950384
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2394)
  AUTHORS   Pfaff,S.L., Mendelsohn,M., Stewart,C.L., Edlund,T. and Jessell,T.M.
  TITLE     Requirement for LIM homeobox gene Isl1 in motor neuron generation
            reveals a motor neuron-dependent step in interneuron
            differentiation
  JOURNAL   Cell 84 (2), 309-320 (1996)
   PUBMED   8565076
REFERENCE   7  (bases 1 to 2394)
  AUTHORS   Riggs,A.C., Tanizawa,Y., Aoki,M., Wasson,J., Ferrer,J., Rabin,D.U.,
            Vaxillaire,M., Froguel,P. and Permutt,M.A.
  TITLE     Characterization of the LIM/homeodomain gene islet-1 and single
            nucleotide screening in NIDDM
  JOURNAL   Diabetes 44 (6), 689-694 (1995)
   PUBMED   7789634
REFERENCE   8  (bases 1 to 2394)
  AUTHORS   Tanizawa,Y., Riggs,A.C., Dagogo-Jack,S., Vaxillaire,M., Froguel,P.,
            Liu,L., Donis-Keller,H. and Permutt,M.A.
  TITLE     Isolation of the human LIM/homeodomain gene islet-1 and
            identification of a simple sequence repeat polymorphism [corrected]
  JOURNAL   Diabetes 43 (7), 935-941 (1994)
   PUBMED   7912209
  REMARK    Erratum:[Diabetes 1994 Sep;43(9):1171]
REFERENCE   9  (bases 1 to 2394)
  AUTHORS   Wang,M. and Drucker,D.J.
  TITLE     The LIM domain homeobox gene isl-1: conservation of human, hamster,
            and rat complementary deoxyribonucleic acid sequences and
            expression in cell types of nonneuroendocrine lineage
  JOURNAL   Endocrinology 134 (3), 1416-1422 (1994)
   PUBMED   7907017
REFERENCE   10 (bases 1 to 2394)
  AUTHORS   Dong,J., Asa,S.L. and Drucker,D.J.
  TITLE     Islet cell and extrapancreatic expression of the LIM domain
            homeobox gene isl-1
  JOURNAL   Mol Endocrinol 5 (11), 1633-1641 (1991)
   PUBMED   1685766
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC010478.5, BC031213.1,
            BC017027.1 and BM680522.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002202.2.
            
            Summary: This gene encodes a member of the LIM/homeodomain family
            of transcription factors. The encoded protein binds to the enhancer
            region of the insulin gene, among others, and may play an important
            role in regulating insulin gene expression. The encoded protein is
            central to the development of pancreatic cell lineages and may also
            be required for motor neuron generation. Mutations in this gene
            have been associated with maturity-onset diabetes of the young.
            [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 :: U07559.1, BC031213.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000230658.12/ ENSP00000230658.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-252               AC010478.5         100510-100761
            253-702             BC031213.1         578-1027
            703-2124            BC017027.1         733-2154
            2125-2394           BM680522.1         12-281              c
FEATURES             Location/Qualifiers
     source          1..2394
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.1"
     gene            1..2394
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /note="ISL LIM homeobox 1"
                     /db_xref="GeneID:3670"
                     /db_xref="HGNC:HGNC:6132"
                     /db_xref="MIM:600366"
     exon            1..252
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     CDS             225..1274
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /note="islet-1"
                     /codon_start=1
                     /product="insulin gene enhancer protein ISL-1"
                     /protein_id="NP_002193.2"
                     /db_xref="CCDS:CCDS43314.1"
                     /db_xref="GeneID:3670"
                     /db_xref="HGNC:HGNC:6132"
                     /db_xref="MIM:600366"
                     /translation="MGDMGDPPKKKRLISLCVGCGNQIHDQYILRVSPDLEWHAACLK
                     CAECNQYLDESCTCFVRDGKTYCKRDYIRLYGIKCAKCSIGFSKNDFVMRARSKVYHI
                     ECFRCVACSRQLIPGDEFALREDGLFCRADHDVVERASLGAGDPLSPLHPARPLQMAA
                     EPISARQPALRPHVHKQPEKTTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMT
                     GLSPRVIRVWFQNKRCKDKKRSIMMKQLQQQQPNDKTNIQGMTGTPMVAASPERHDGG
                     LQANPVEVQSYQPPWKVLSDFALQSDIDQPAFQQLVNFSEGGPGSNSTGSEVASMSSQ
                     LPDTPNSMVASPIEA"
     exon            253..442
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     exon            443..702
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     exon            703..989
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1157
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     exon            1158..2394
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2364..2369
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /note="hexamer: AATAAA"
     polyA_site      2394
                     /gene="ISL1"
                     /gene_synonym="Isl-1; ISLET1"
                     /note="major polyA site"
ORIGIN      
        1 gagtctgccg ccgccgcagc gcctccgctc cgccaactcc gccggcttaa attggactcc
       61 tagatccgcg agggcgcggc gcagccgagc agcggctctt tcagcattgg caaccccagg
      121 ggccaatatt tcccacttag ccacagctcc agcatcctct ctgtgggctg ttcaccaact
      181 gtacaaccac catttcactg tggacattac tccctcttac agatatggga gacatgggag
      241 atccaccaaa aaaaaaacgt ctgatttccc tatgtgttgg ttgcggcaat cagattcacg
      301 atcagtatat tctgagggtt tctccggatt tggaatggca tgcggcatgt ttgaaatgtg
      361 cggagtgtaa tcagtatttg gacgagagct gtacatgctt tgttagggat gggaaaacct
      421 actgtaaaag agattatatc aggttgtacg ggatcaaatg cgccaagtgc agcatcggct
      481 tcagcaagaa cgacttcgtg atgcgtgccc gctccaaggt gtatcacatc gagtgtttcc
      541 gctgtgtggc ctgcagccgc cagctcatcc ctggggacga atttgcgctt cgggaggacg
      601 gtctcttctg ccgagcagac cacgatgtgg tggagagggc cagtctaggc gctggcgacc
      661 cgctcagtcc cctgcatcca gcgcggccac tgcaaatggc agcggagccc atctccgcca
      721 ggcagccagc cctgcggccc cacgtccaca agcagccgga gaagaccacc cgcgtgcgga
      781 ctgtgctgaa cgagaagcag ctgcacacct tgcggacctg ctacgccgca aacccgcggc
      841 cagatgcgct catgaaggag caactggtag agatgacggg cctcagtccc cgtgtgatcc
      901 gggtctggtt tcaaaacaag cggtgcaagg acaagaagcg aagcatcatg atgaagcaac
      961 tccagcagca gcagcccaat gacaaaacta atatccaggg gatgacagga actcccatgg
     1021 tggctgccag tccagagaga cacgacggtg gcttacaggc taacccagtg gaagtacaaa
     1081 gttaccagcc accttggaaa gtactgagcg acttcgcctt gcagagtgac atagatcagc
     1141 ctgcttttca gcaactggtc aatttttcag aaggaggacc gggctctaat tccactggca
     1201 gtgaagtagc atcaatgtcc tctcaacttc cagatacacc taacagcatg gtagccagtc
     1261 ctattgaggc atgaggaaca ttcattctgt attttttttc cctgttggag aaagtgggaa
     1321 attataatgt cgaactctga aacaaaagta tttaacgacc cagtcaatga aaactgaatc
     1381 aagaaatgaa tgctccatga aatgcacgaa gtctgtttta atgacaaggt gatatggtag
     1441 caacactgtg aagacaatca tgggatttta ctagaattaa acaacaaaca aaacgcaaaa
     1501 cccagtatat gctattcaat gatcttagaa gtactgaaaa aaaaagacgt ttttaaaacg
     1561 tagaggattt atattcaagg atctcaaaga aagcattttc atttcactgc acatctagag
     1621 aaaaacaaaa atagaaaatt ttctagtcca tcctaatctg aatggtgctg tttctatatt
     1681 ggtcattgcc ttgccaaaca ggagctccag caaaagcgca ggaagagaga ctggcctcct
     1741 tggctgaaag agtcctttca ggaaggtgga gctgcattgg tttgatatgt ttaaagttga
     1801 ctttaacaag gggttaattg aaatcctggg tctcttggcc tgtcctgtag ctggtttatt
     1861 ttttactttg ccccctcccc actttttttg agatccatcc tttatcaaga agtctgaagc
     1921 gactataaag gtttttgaat tcagatttaa aaaccaactt ataaagcatt gcaacaaggt
     1981 tacctctatt ttgccacaag cgtctcggga ttgtgtttga cttgtgtctg tccaagaact
     2041 tttcccccaa agatgtgtat agttattggt taaaatgact gttttctctc tctatggaaa
     2101 taaaaaggaa aaaaaaaaag gaaacttttt ttgtttgctc ttgcattgca aaaattataa
     2161 agtaatttat tatttattgt cggaagactt gccacttttc atgtcatttg acattttttg
     2221 tttgctgaag tgaaaaaaaa agataaaggt tgtacggtgg tctttgaatt atatgtctaa
     2281 ttctatgtgt tttgtctttt tcttaaatat tatgtgaaat caaagcgcca tatgtagaat
     2341 tatatcttca ggactatttc actaataaac atttggcata gataaataaa taaa
//
