LOCUS       NM_080826               3090 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens isthmin 1 (ISM1), mRNA.
ACCESSION   NM_080826 XM_097736 XM_939699
VERSION     NM_080826.2
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 3090)
  AUTHORS   Lei,X., Chen,H., Xu,Y., Yang,Z., Zhang,L., Wang,C. and Du,H.
  TITLE     Serum isthmin-1 is a potential biomarker for metabolic dysfunction
            associated fatty liver disease in patients with metabolic syndrome
            and type 2 diabetes mellitus
  JOURNAL   BMJ Open Diabetes Res Care 12 (5), e004514 (2024)
   PUBMED   39322582
  REMARK    GeneRIF: Serum isthmin-1 is a potential biomarker for metabolic
            dysfunction associated fatty liver disease in patients with
            metabolic syndrome and type 2 diabetes mellitus.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3090)
  AUTHORS   Liang,J.Y., Wei,H.J. and Tang,Y.Y.
  TITLE     Isthmin: A multifunctional secretion protein
  JOURNAL   Cytokine 173, 156423 (2024)
   PUBMED   37979212
  REMARK    GeneRIF: Isthmin: A multifunctional secretion protein.
            Review article
REFERENCE   3  (bases 1 to 3090)
  AUTHORS   Senturk,Z., Kale,I. and Muhcu,M.
  TITLE     Investigation of serum isthmin 1 concentration in pregnant women
            diagnosed with gestational diabetes mellitus; a case-control study
  JOURNAL   J Matern Fetal Neonatal Med 36 (2), 2271624 (2023)
   PUBMED   37852798
  REMARK    GeneRIF: Investigation of serum isthmin 1 concentration in pregnant
            women diagnosed with gestational diabetes mellitus; a case-control
            study.
REFERENCE   4  (bases 1 to 3090)
  AUTHORS   Sahiri,V., Caron,J., Roger,E., Desterke,C., Ghachem,K.,
            Mohamadou,I., Serre,J., Prakoura,N., Fellahi,S., Placier,S.,
            Adriouch,S., Zhang,L., Chadjichristos,C.E., Chatziantoniou,C.,
            Lorenzo,H.K. and Boffa,J.J.
  TITLE     The Angiogenesis Inhibitor Isthmin-1 (ISM1) Is Overexpressed in
            Experimental Models of Glomerulopathy and Impairs the Viability of
            Podocytes
  JOURNAL   Int J Mol Sci 24 (3), 2723 (2023)
   PUBMED   36769045
  REMARK    GeneRIF: The Angiogenesis Inhibitor Isthmin-1 (ISM1) Is
            Overexpressed in Experimental Models of Glomerulopathy and Impairs
            the Viability of Podocytes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3090)
  AUTHORS   Wang,C., Xu,M., Feng,R., Zhang,L., Yin,X., Feng,R., Liang,K. and
            Liu,J.
  TITLE     Serum isthmin-1 levels are positively and independently correlated
            with albuminuria in patients with type 2 diabetes mellitus
  JOURNAL   BMJ Open Diabetes Res Care 10 (5) (2022)
   PUBMED   36126993
  REMARK    GeneRIF: Serum isthmin-1 levels are positively and independently
            correlated with albuminuria in patients with type 2 diabetes
            mellitus.
REFERENCE   6  (bases 1 to 3090)
  AUTHORS   Zhang,Y., Chen,M., Venugopal,S., Zhou,Y., Xiang,W., Li,Y.H.,
            Lin,Q., Kini,R.M., Chong,Y.S. and Ge,R.
  TITLE     Isthmin exerts pro-survival and death-promoting effect on
            endothelial cells through alphavbeta5 integrin depending on its
            physical state
  JOURNAL   Cell Death Dis 2 (5), e153 (2011)
   PUBMED   21544092
  REMARK    GeneRIF: Isthmin unexpectedly has both a pro-survival and
            death-promoting effect on endothelial cells depending on its
            physical state.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3090)
  AUTHORS   Xiang,W., Ke,Z., Zhang,Y., Cheng,G.H., Irwan,I.D., Sulochana,K.N.,
            Potturi,P., Wang,Z., Yang,H., Wang,J., Zhuo,L., Kini,R.M. and Ge,R.
  TITLE     Isthmin is a novel secreted angiogenesis inhibitor that inhibits
            tumour growth in mice
  JOURNAL   J Cell Mol Med 15 (2), 359-374 (2011)
   PUBMED   19874420
REFERENCE   8  (bases 1 to 3090)
  AUTHORS   Simon-Sanchez,J., Schulte,C., Bras,J.M., Sharma,M., Gibbs,J.R.,
            Berg,D., Paisan-Ruiz,C., Lichtner,P., Scholz,S.W., Hernandez,D.G.,
            Kruger,R., Federoff,M., Klein,C., Goate,A., Perlmutter,J.,
            Bonin,M., Nalls,M.A., Illig,T., Gieger,C., Houlden,H., Steffens,M.,
            Okun,M.S., Racette,B.A., Cookson,M.R., Foote,K.D., Fernandez,H.H.,
            Traynor,B.J., Schreiber,S., Arepalli,S., Zonozi,R., Gwinn,K., van
            der Brug,M., Lopez,G., Chanock,S.J., Schatzkin,A., Park,Y.,
            Hollenbeck,A., Gao,J., Huang,X., Wood,N.W., Lorenz,D., Deuschl,G.,
            Chen,H., Riess,O., Hardy,J.A., Singleton,A.B. and Gasser,T.
  TITLE     Genome-wide association study reveals genetic risk underlying
            Parkinson's disease
  JOURNAL   Nat Genet 41 (12), 1308-1312 (2009)
   PUBMED   19915575
REFERENCE   9  (bases 1 to 3090)
  AUTHORS   Pera,E.M., Kim,J.I., Martinez,S.L., Brechner,M., Li,S.Y.,
            Wessely,O. and De Robertis,E.M.
  TITLE     Isthmin is a novel secreted protein expressed as part of the Fgf-8
            synexpression group in the Xenopus midbrain-hindbrain organizer
  JOURNAL   Mech Dev 116 (1-2), 169-172 (2002)
   PUBMED   12128218
REFERENCE   10 (bases 1 to 3090)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL050320.19, DB169194.1, CR982468.1, DB202450.1, BC017997.1,
            BQ771595.1 and AL133463.16.
            
            On Nov 23, 2018 this sequence version replaced NM_080826.1.
            
            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 :: SRR1803612.234510.1,
                                           SRR1803613.182644.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262487.5/ ENSP00000262487.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-497               AL050320.19        57647-58143
            498-993             DB169194.1         3-498
            994-1356            CR982468.1         278-640
            1357-1540           DB202450.1         299-482
            1541-3028           BC017997.1         100-1587
            3029-3089           BQ771595.1         19-79               c
            3090-3090           AL133463.16        30067-30067
FEATURES             Location/Qualifiers
     source          1..3090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.1"
     gene            1..3090
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="isthmin 1"
                     /db_xref="GeneID:140862"
                     /db_xref="HGNC:HGNC:16213"
                     /db_xref="MIM:615793"
     exon            1..641
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     CDS             504..1898
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="isthmin 1 homolog; isthmin 1, angiogenesis
                     inhibitor"
                     /codon_start=1
                     /product="isthmin-1 precursor"
                     /protein_id="NP_543016.1"
                     /db_xref="CCDS:CCDS46579.1"
                     /db_xref="GeneID:140862"
                     /db_xref="HGNC:HGNC:16213"
                     /db_xref="MIM:615793"
                     /translation="MVRLAAELLLLLGLLLLTLHITVLRGSGAADGPDAAAGNASQAQ
                     LQNNLNVGSDTTSETSFSLSKEAPREHLDHQAAHQPFPRPRFRQETGHPSLQRDFPRS
                     FLLDLPNFPDLSKADINGQNPNIQVTIEVVDGPDSEADKDQHPENKPSWSVPSPDWRA
                     WWQRSLSLARANSGDQDYKYDSTSDDSNFLNPPRGWDHTAPGHRTFETKDQPEYDSTD
                     GEGDWSLWSVCSVTCGNGNQKRTRSCGYACTATESRTCDRPNCPGIEDTFRTAATEVS
                     LLAGSEEFNATKLFEVDTDSCERWMSCKSEFLKKYMHKVMNDLPSCPCSYPTEVAYST
                     ADIFDRIKRKDFRWKDASGPKEKLEIYKPTARYCIRSMLSLESTTLAAQHCCYGDNMQ
                     LITRGKGAGTPNLISTEFSAELHYKVDVLPWIICKGDWSRYNEARPPNNGQKCTESPS
                     DEDYIKQFQEAREY"
     exon            642..881
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1146
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1290
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1380
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..3090
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2718..2723
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="hexamer: AACAAG"
     polyA_site      2755
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="major polyA site"
     regulatory      3069..3074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="hexamer: AATAAA"
     polyA_site      3090
                     /gene="ISM1"
                     /gene_synonym="bA149I18.1; C20orf82; dJ1077I2.1; ISM;
                     Isthmin"
                     /note="major polyA site"
ORIGIN      
        1 ctcctcctcc tccccgcgct tctctggcgg ccgctcccgc tccagctgcg gcgccgcggc
       61 cacatctggg gcgcccatgt gcgctcgggg gctcggctgc gcccgccccg ccgccgaccc
      121 cgcagccccc tgccagcagg gtggcctccg gcccggcccg ggtcccgggc tgtcccggga
      181 cccagtctcc gtctccgccg ccgccgccgc caggcagcgc cggggcttgc tccgcagccg
      241 gcttggacac ccccggcctc gcggtggctc cgccgtggtg cggcggcggc ggcggcggcg
      301 gcgccggcag ctcctgctcc cccggccccg cacaccccgc cgcgcccagc gccagccccg
      361 cgggcccggg aagcggagcc ctggcgggag ccgaggcggg agccgcgctg ccgggctccc
      421 gggctcctac tcctcctccc ccggcgtcac cgccgccgcc gccggccgcc gcgccgggtc
      481 ctaaagccgc gcgtctcaaa aggatggtgc gcctggcggc cgagctgctg ctgctgctgg
      541 ggctgctgct gctcacgctg cacatcaccg tgctgcgcgg ctcgggagcc gccgacgggc
      601 ccgacgcggc cgcgggcaac gccagccaag cccagctgca gaataacctc aacgtgggaa
      661 gtgacaccac atcagaaacc agcttttctc tctccaaaga agcaccaagg gagcatctgg
      721 accaccaggc tgcacaccaa cccttcccca gaccgcgatt ccgacaagag acggggcacc
      781 cttcattgca aagagatttc cccagatcct ttctccttga tctaccaaac tttccagatc
      841 tttccaaagc tgatatcaat gggcagaatc caaatatcca ggtcaccata gaggtggtcg
      901 acggtcctga ctctgaagca gataaagatc agcatccgga gaataagccc agctggtcag
      961 tcccatcccc cgactggcgg gcctggtggc agaggtccct gtccttggcc agggcaaaca
     1021 gcggggacca ggactacaag tacgacagta cctcagacga cagcaacttc ctcaaccccc
     1081 ccagggggtg ggaccataca gccccaggcc accggacttt tgaaaccaaa gatcagccag
     1141 aatatgattc cacagatggc gagggtgact ggagtctctg gtctgtctgc agcgtcacct
     1201 gcgggaacgg caaccagaaa cggacccggt cttgtggcta cgcgtgcact gcaacagaat
     1261 cgaggacctg tgaccgtcca aactgcccag gaattgaaga cacttttagg acagctgcca
     1321 ccgaagtgag tctgcttgcg ggaagcgagg agtttaatgc caccaaactg tttgaagttg
     1381 acacagacag ctgtgagcgc tggatgagct gcaaaagcga gttcttaaag aagtacatgc
     1441 acaaggtgat gaatgacctg cccagctgcc cctgctccta ccccactgag gtggcctaca
     1501 gcacggccga catcttcgac cgcatcaagc gcaaggactt ccgctggaag gacgccagcg
     1561 ggcccaagga gaagctggag atctacaagc ccactgcccg gtactgcatc cgctccatgc
     1621 tgtccctgga gagcaccacg ctggcggcac agcactgctg ctacggcgac aacatgcagc
     1681 tcatcaccag gggcaagggg gcgggcacgc ccaacctcat cagcaccgag ttctccgcgg
     1741 agctccacta caaggtggac gtcctgccct ggattatctg caagggtgac tggagcaggt
     1801 ataacgaggc ccggcctccc aacaacggac agaagtgcac agagagcccc tcggacgagg
     1861 actacatcaa gcagttccaa gaggccaggg aatattaaag agactgggat gaggtggagg
     1921 acgctgcctc tggttctgga gcacacacgt gctgcactga cgtgccgact ggcgccgaga
     1981 ccttcatagc tgcggtcgtg tatatttgta tataccacat gagtatttct catacattac
     2041 gctaggggcg tgtgccacgc ccaggggact gccttgtgaa gccgccctcg ccatctgcag
     2101 agctccttga aagtgcccct ggggagcgat gtgggcagaa ggatggggac aacttggaag
     2161 ccagaagaag aacctggaag ccacagtggg tgcgactcaa ttcacacccg gatccagagt
     2221 ttcaaagaga ggcaaagggg gaaagagact gaggttgtaa acgttataag cagtttttat
     2281 atataactta tttaatacaa atgtgactta attaagcgta accttttctc tggagttgtg
     2341 gtgaaactaa tcacgtctgt gagagatcag aaagaaagag acttagggaa gtggaagaga
     2401 aagggaattt tggaatttat ttctttaaaa ataatgcaat ggaaatatat caaaacatgt
     2461 aaacgcccac cttaaaccaa atgttatttg gtcatgaggc accttgctgg agtctcagat
     2521 tccaaaagtc tcttcttcag actgggtagg gaatatgata ttttagggac aaagctgagg
     2581 actggtttta aataggcttt aaaataaaag atcaatatta tcataatgct atcattctgc
     2641 taaacggccc caaaacagta gaatttctgc tcatgtccta gcaggttcag aagactgcag
     2701 ccaagttcag atgtaaaaac aagaagtagc acttttccaa aggaaaacaa caaaacaaat
     2761 gggaaaaaga taatggaccg catttcacct attttaatac tattttaaca attttttcat
     2821 ctaccaatat atccccaata aataaatata aaaggggggg agggtcaatc tggggaatct
     2881 tagtttttta tgttttaaga aaacaaaaaa aactgcatta tttttgtaaa gtatttattg
     2941 agtcacggat tattgtgcat caagcaattg ttaatatgac ctggtcctat ggggtagaac
     3001 ttaggaaaaa taaagttggt tcttattcaa tattttactt tgcaaaattc tagtaaaaga
     3061 gagtatataa taaaatcata ataaaaggtg
//
