LOCUS       NM_001350834            2278 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens islet cell autoantigen 1 (ICA1), transcript variant
            19, mRNA.
ACCESSION   NM_001350834
VERSION     NM_001350834.2
KEYWORDS    RefSeq.
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 2278)
  AUTHORS   Ji,L., Meng,Z., Dong,X., Wang,Q., Jiang,Y., Zhang,J., Hu,D.,
            Guo,S., Zhou,W. and Song,W.
  TITLE     ICA1 affects APP processing through the PICK1-PKCalpha signaling
            pathway
  JOURNAL   CNS Neurosci Ther 30 (6), e14754 (2024)
   PUBMED   38884369
  REMARK    GeneRIF: ICA1 affects APP processing through the PICK1-PKCalpha
            signaling pathway.
REFERENCE   2  (bases 1 to 2278)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2278)
  AUTHORS   Suurmeijer,A.J., Dickson,B.C., Swanson,D., Sung,Y.S., Zhang,L. and
            Antonescu,C.R.
  TITLE     Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential
            For Malignant Behavior
  JOURNAL   Am J Surg Pathol 44 (1), 55-60 (2020)
   PUBMED   31478943
  REMARK    GeneRIF: Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With
            Potential For Malignant Behavior
REFERENCE   4  (bases 1 to 2278)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   5  (bases 1 to 2278)
  AUTHORS   Herlo,R., Lund,V.K., Lycas,M.D., Jansen,A.M., Khelashvili,G.,
            Andersen,R.C., Bhatia,V., Pedersen,T.S., Albornoz,P.B.C.,
            Johner,N., Ammendrup-Johnsen,I., Christensen,N.R., Erlendsson,S.,
            Stoklund,M., Larsen,J.B., Weinstein,H., Kjaerulff,O., Stamou,D.,
            Gether,U. and Madsen,K.L.
  TITLE     An Amphipathic Helix Directs Cellular Membrane Curvature Sensing
            and Function of the BAR Domain Protein PICK1
  JOURNAL   Cell Rep 23 (7), 2056-2069 (2018)
   PUBMED   29768204
REFERENCE   6  (bases 1 to 2278)
  AUTHORS   Thai,A.C., Ng,W.Y., Lui,K.F. and Cheah,J.S.
  TITLE     Islet cell and thyroid autoimmunity in Chinese patients with IDDM
  JOURNAL   Diabetes Care 18 (4), 586-587 (1995)
   PUBMED   7497880
REFERENCE   7  (bases 1 to 2278)
  AUTHORS   Martin,S., Kardorf,J., Schulte,B., Lampeter,E.F., Gries,F.A.,
            Melchers,I., Wagner,R., Bertrams,J., Roep,B.O. and Pfutzner,A.
  TITLE     Autoantibodies to the islet antigen ICA69 occur in IDDM and in
            rheumatoid arthritis
  JOURNAL   Diabetologia 38 (3), 351-355 (1995)
   PUBMED   7758883
REFERENCE   8  (bases 1 to 2278)
  AUTHORS   Miyazaki,I., Cheung,R.K., Gaedigk,R., Hui,M.F., Van der Meulen,J.,
            Rajotte,R.V. and Dosch,H.M.
  TITLE     T cell activation and anergy to islet cell antigen in type I
            diabetes
  JOURNAL   J Immunol 154 (3), 1461-1469 (1995)
   PUBMED   7822811
REFERENCE   9  (bases 1 to 2278)
  AUTHORS   Miyazaki,I., Gaedigk,R., Hui,M.F., Cheung,R.K., Morkowski,J.,
            Rajotte,R.V. and Dosch,H.M.
  TITLE     Cloning of human and rat p69 cDNA, a candidate autoimmune target in
            type 1 diabetes
  JOURNAL   Biochim Biophys Acta 1227 (1-2), 101-104 (1994)
   PUBMED   7918678
REFERENCE   10 (bases 1 to 2278)
  AUTHORS   Lampasona,V., Ferrari,M., Bosi,E., Pastore,M.R., Bingley,P.J. and
            Bonifacio,E.
  TITLE     Sera from patients with IDDM and healthy individuals have
            antibodies to ICA69 on western blots but do not immunoprecipitate
            liquid phase antigen
  JOURNAL   J Autoimmun 7 (5), 665-674 (1994)
   PUBMED   7840858
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007009.2 and AC006042.2.
            
            On May 31, 2019 this sequence version replaced NM_001350834.1.
            
            Summary: This gene encodes a protein with an arfaptin homology
            domain that is found both in the cytosol and as membrane-bound form
            on the Golgi complex and immature secretory granules. This protein
            is believed to be an autoantigen in insulin-dependent diabetes
            mellitus and primary Sjogren's syndrome. Several transcript
            variants encoding two different isoforms have been found for this
            gene. [provided by RefSeq, Feb 2013].
            
            Transcript Variant: This variant (19) encodes isoform g.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1660807.231509.1,
                                           SRR1803616.132417.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-74                AC007009.2         142330-142403       c
            75-170              AC007009.2         116146-116241       c
            171-333             AC007009.2         112826-112988       c
            334-406             AC007009.2         108837-108909       c
            407-530             AC007009.2         101511-101634       c
            531-729             AC007009.2         98541-98739         c
            730-855             AC007009.2         38763-38888         c
            856-954             AC007009.2         37352-37450         c
            955-1052            AC007009.2         24111-24208         c
            1053-1105           AC007009.2         22001-22053         c
            1106-1147           AC007009.2         19076-19117         c
            1148-1417           AC007009.2         8109-8378           c
            1418-2278           AC006042.2         171581-172441       c
FEATURES             Location/Qualifiers
     source          1..2278
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..2278
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="islet cell autoantigen 1"
                     /db_xref="GeneID:3382"
                     /db_xref="HGNC:HGNC:5343"
                     /db_xref="MIM:147625"
     exon            1..74
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            75..170
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     CDS             154..1539
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="isoform g is encoded by transcript variant 19;
                     islet cell autoantigen p69; diabetes mellitus type I
                     autoantigen; 69 kDa islet cell autoantigen; islet cell
                     autoantigen 1, 69kDa; testicular tissue protein Li 162"
                     /codon_start=1
                     /product="islet cell autoantigen 1 isoform g"
                     /protein_id="NP_001337763.1"
                     /db_xref="GeneID:3382"
                     /db_xref="HGNC:HGNC:5343"
                     /db_xref="MIM:147625"
                     /translation="MSGHKCYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKKE
                     DEHVVASDADLDAKLELFHSIQRTCLDLSKAIVLYQKRICFLSQEENELGKFLRSQGF
                     QDKTRAGKMMQATGKALCFSSQQRLALRNPLCRFHQEVETFRHRAISDTWLTVNRMEQ
                     CRTEYRGALLWMKDVSQELDPDLYKQMEKFRKVQTQVRLAKKNFDKLKMDVCQKVDLL
                     GASRCNLLSHMLATYQTTLLHFWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKKL
                     VEKEEKKKINQQESTDAAVQEPSQLISLEEENQRKESSSFKRPIDELLDMKSEEGACL
                     GPVAGTPEPEGADKDDLLLLSEIFNASSLEEGEFSKEWAAVFGDGQVKEPVPTMALGE
                     PDPKAQTGSGFLPSQLLDQNMKDLQASLQEPAKAASDLTAWFSLFADLDPLSNPDAVG
                     KTDKEHELLNA"
     exon            171..333
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            334..406
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            407..530
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            531..729
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            730..855
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            856..954
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1052
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1105
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1147
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1417
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..2278
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1649..1654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: AATAAA"
     regulatory      1654..1659
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: AATGAA"
     polyA_site      1687
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="major polyA site"
     polyA_site      1690
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="major polyA site"
     regulatory      2249..2254
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: ATTAAA"
     polyA_site      2278
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
ORIGIN      
        1 gctgacgtcg gatgagtgat ccggagggac gctccgaccg cggccgggag gctcctgggg
       61 gccggggctc cgaggttata atataactta tcctctcatg cttttttcct gccccttctc
      121 cccaaatcat caacaataga agaagaagaa aacatgtcag gacacaaatg ttatccctgg
      181 gacttacagg atcgatatgc tcaagataag tcagttgtaa ataagatgca acagaaatat
      241 tgggagacga agcaggcctt tattaaagcc acagggaaga aggaagatga acatgttgtt
      301 gcctctgacg cggacctgga tgccaagcta gagctgtttc attcaattca gagaacctgt
      361 ctggacttat cgaaagcaat tgtactctat caaaagagga tatgtttctt gtctcaagaa
      421 gaaaacgaac tgggaaaatt tcttcgatcc caaggtttcc aagataaaac cagagcagga
      481 aagatgatgc aagcgacagg aaaggccctc tgcttttctt cccagcaaag gttggcctta
      541 cgaaatcctt tgtgtcgatt tcaccaagaa gtggagactt ttcggcatcg ggccatctca
      601 gatacttggc tgacggtgaa ccgcatggaa cagtgcagga cggaatatag aggagcacta
      661 ttatggatga aggacgtgtc tcaggagctt gatccagacc tctacaagca aatggagaag
      721 ttcaggaagg tacaaacaca agtgcgcctt gcaaaaaaaa actttgacaa attgaagatg
      781 gatgtttgtc aaaaagtgga tcttcttgga gcgagcagat gcaatctctt gtctcacatg
      841 ctagcaacat accagaccac tctgcttcat ttttgggaga aaacttctca cactatggca
      901 gccatccatg agagtttcaa aggttatcaa ccatatgaat ttactacttt aaagagctta
      961 caagacccta tgaaaaaatt agttgagaaa gaagagaaga agaaaatcaa ccagcaggaa
     1021 agtacagatg cagccgtgca ggagccgagc caattaattt cattagagga agaaaaccag
     1081 cgcaaggaat cctctagttt taagagaccc atagatgaac tattagacat gaaatctgag
     1141 gaaggtgctt gcctgggacc agtggcaggg accccggaac ctgaaggtgc tgacaaagat
     1201 gacctgctgc tgttgagtga gatcttcaat gcttcctcct tggaagaggg cgagttcagc
     1261 aaagagtggg ccgctgtgtt tggagacggc caagtgaagg agccagtgcc cactatggcc
     1321 ctgggagagc cagaccccaa ggcccagaca ggctcaggtt tccttccttc gcagctttta
     1381 gaccaaaata tgaaagactt acaggcctcg ctacaagaac ctgctaaggc tgcctcagac
     1441 ctgactgcct ggttcagcct cttcgctgac ctcgacccac tctcaaatcc tgatgctgtt
     1501 gggaaaaccg ataaagaaca cgaattgctc aatgcatgaa tctgtaccct tcgggagggc
     1561 actcacatgc cgcccccagc agctcccctg ggggctagca gaagtataaa gtgatcagta
     1621 tgctgtttta ataattatgt gccattttaa taaaatgaaa gggtcaacgg ccctgtttat
     1681 attggtataa ttatttactc ttatttggta taaagggttt tcgtgtatct ctatgtggat
     1741 ctaaataata caggattgtc tagaagcggt ttccaggcca ccgctctcct gcctacatcc
     1801 catcatggct gctgcggtgt cactgggcta ccgtgagatc caagttgaaa tcagaagcct
     1861 actttgatgg taggtttgaa tgacgtgtcc tacagcctca gaggcagcag gaggctagca
     1921 aagcttaaat gcctccttct ctgcccccag cctctgtccc ccttggagga gggctgtagg
     1981 aagattccct cttcctgcca agccaccttc cagtgagctc tggatgaagc tctggccaac
     2041 caaagacact gtccccacag caggtgcctg gtgggccacg tgttctcaca ctggtggagg
     2101 agctgggctt ctgtccaagg cacaaacctt actatggaaa gcagccatat ttgcagatac
     2161 cactgtctcc ttttgtcctc ttcgtggctg gaattcaaaa gcatgtattt ctgaagcctc
     2221 ttgtgacatt gttttttttt tttttttaat taaacagaaa agatatttga catgcaaa
//
