LOCUS       NM_000207                465 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens insulin (INS), transcript variant 1, mRNA.
ACCESSION   NM_000207
VERSION     NM_000207.3
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 465)
  AUTHORS   Jabeen,A., Riaz,S., Usman,M., Parveen,A., Mukhtar,M., Wajid,A.,
            Hanif,A. and Batool,A.
  TITLE     Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in
            childhood onset type 1 diabetes in a Pakistani population
  JOURNAL   Mol Biol Rep 51 (1), 1070 (2024)
   PUBMED   39425874
  REMARK    GeneRIF: Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS
            genes in childhood onset type 1 diabetes in a Pakistani population.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 465)
  AUTHORS   Nielsen,S. and Jensen,M.D.
  TITLE     Insulin regulation of regional lipolysis in upper-body obese and
            lean humans
  JOURNAL   JCI Insight 9 (9), e175629 (2024)
   PUBMED   38602778
  REMARK    GeneRIF: Insulin regulation of regional lipolysis in upper-body
            obese and lean humans.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 465)
  AUTHORS   Kralovicova,J. and Vorechovsky,I.
  TITLE     Allele-specific recognition of the 3' splice site of INS intron 1
  JOURNAL   Hum Genet 128 (4), 383-400 (2010)
   PUBMED   20628762
  REMARK    GeneRIF: Findings reveal critical interactions underlying the
            allele-dependent INS expression and INS-mediated risk of T1D
REFERENCE   4  (bases 1 to 465)
  AUTHORS   Stead,J.D., Hurles,M.E. and Jeffreys,A.J.
  TITLE     Global haplotype diversity in the human insulin gene region
  JOURNAL   Genome Res 13 (9), 2101-2111 (2003)
   PUBMED   12952878
REFERENCE   5  (bases 1 to 465)
  AUTHORS   Naylor,R., Knight Johnson,A. and del Gaudio,D.
  TITLE     Maturity-Onset Diabetes of the Young Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29792621
REFERENCE   6  (bases 1 to 465)
  AUTHORS   De Leon,D.D. and Pinney,S.E.
  TITLE     Permanent Neonatal Diabetes Mellitus
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301620
REFERENCE   7  (bases 1 to 465)
  AUTHORS   Bell,G.I., Swain,W.F., Pictet,R., Cordell,B., Goodman,H.M. and
            Rutter,W.J.
  TITLE     Nucleotide sequence of a cDNA clone encoding human preproinsulin
  JOURNAL   Nature 282 (5738), 525-527 (1979)
   PUBMED   503234
REFERENCE   8  (bases 1 to 465)
  AUTHORS   Tager,H., Given,B., Baldwin,D., Mako,M., Markese,J., Rubenstein,A.,
            Olefsky,J., Kobayashi,M., Kolterman,O. and Poucher,R.
  TITLE     A structurally abnormal insulin causing human diabetes
  JOURNAL   Nature 281 (5727), 122-125 (1979)
   PUBMED   381941
REFERENCE   9  (bases 1 to 465)
  AUTHORS   Flynn,T.J., Deshmukh,D.S. and Pieringer,R.A.
  TITLE     Effects of altered thyroid function on galactosyl diacylglycerol
            metabolism in myelinating rat brain
  JOURNAL   J Biol Chem 252 (16), 5864-5870 (1977)
   PUBMED   195962
REFERENCE   10 (bases 1 to 465)
  AUTHORS   SANGER,F.
  TITLE     Chemistry of insulin; determination of the structure of insulin
            opens the way to greater understanding of life processes
  JOURNAL   Science 129 (3359), 1340-1344 (1959)
   PUBMED   13658959
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC005255.1 and BM510748.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000207.2.
            
            Summary: This gene encodes insulin, a peptide hormone that plays a
            vital role in the regulation of carbohydrate and lipid metabolism.
            After removal of the precursor signal peptide, proinsulin is
            post-translationally cleaved into three peptides: the B chain and A
            chain peptides, which are covalently linked via two disulfide bonds
            to form insulin, and C-peptide. Binding of insulin to the insulin
            receptor (INSR) stimulates glucose uptake. A multitude of mutant
            alleles with phenotypic effects have been identified, including
            insulin-dependent diabetes mellitus, permanent neonatal diabetes
            diabetes mellitus, maturity-onset diabetes of the young type 10 and
            hyperproinsulinemia. There is a read-through gene, INS-IGF2, which
            overlaps with this gene at the 5' region and with the IGF2 gene at
            the 3' region. [provided by RefSeq, May 2020].
            
            Transcript Variant: This variant (1) represents the shortest
            variant. All variants encode the same protein.
            
            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 :: BU784533.1, BC005255.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151405, SAMEA2153347
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000381330.5/ ENSP00000370731.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-413               BC005255.1         1-413
            414-465             BM510748.1         418-469
FEATURES             Location/Qualifiers
     source          1..465
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..465
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="insulin"
                     /db_xref="GeneID:3630"
                     /db_xref="HGNC:HGNC:6081"
                     /db_xref="MIM:176730"
     exon            1..42
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /inference="alignment:Splign:2.1.0"
     exon            43..246
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..392
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="proinsulin; preproinsulin"
                     /codon_start=1
                     /product="insulin preproprotein"
                     /protein_id="NP_000198.1"
                     /db_xref="CCDS:CCDS7729.1"
                     /db_xref="GeneID:3630"
                     /db_xref="HGNC:HGNC:6081"
                     /db_xref="MIM:176730"
                     /translation="MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCG
                     ERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPLALEGSLQKRGIVEQCCTSICSL
                     YQLENYCN"
     exon            247..465
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      446..451
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="hexamer: AATAAA"
     polyA_site      465
                     /gene="INS"
                     /gene_synonym="IDDM; IDDM1; IDDM2; ILPR; IRDN; MODY10;
                     PNDM4"
                     /note="major polyA site"
ORIGIN      
        1 agccctccag gacaggctgc atcagaagag gccatcaagc agatcactgt ccttctgcca
       61 tggccctgtg gatgcgcctc ctgcccctgc tggcgctgct ggccctctgg ggacctgacc
      121 cagccgcagc ctttgtgaac caacacctgt gcggctcaca cctggtggaa gctctctacc
      181 tagtgtgcgg ggaacgaggc ttcttctaca cacccaagac ccgccgggag gcagaggacc
      241 tgcaggtggg gcaggtggag ctgggcgggg gccctggtgc aggcagcctg cagcccttgg
      301 ccctggaggg gtccctgcag aagcgtggca ttgtggaaca atgctgtacc agcatctgct
      361 ccctctacca gctggagaac tactgcaact agacgcagcc cgcaggcagc cccacacccg
      421 ccgcctcctg caccgagaga gatggaataa agcccttgaa ccagc
//
