LOCUS       NM_001136020            2344 bp    mRNA    linear   PRI 24-OCT-2024
DEFINITION  Homo sapiens islet cell autoantigen 1 (ICA1), transcript variant 3,
            mRNA.
ACCESSION   NM_001136020
VERSION     NM_001136020.3
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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 2344)
  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 DA154134.1, AK292106.1,
            AC006042.2 and BU728575.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001136020.2.
            
            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 (3) encodes isoform a. Variants 1,
            2, 3, 5, and 6 all encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: SRR3476690.788803.1,
                                           SRR1803614.127954.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000402384.8/ ENSP00000385570.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DA154134.1         115-131
            18-1754             AK292106.1         1-1737
            1755-2331           AC006042.2         171594-172170       c
            2332-2344           BU728575.1         16-28               c
FEATURES             Location/Qualifiers
     source          1..2344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..2344
                     /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..1605
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="isoform a is encoded by transcript variant 3; 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 a"
                     /protein_id="NP_001129492.1"
                     /db_xref="CCDS:CCDS34602.1"
                     /db_xref="GeneID:3382"
                     /db_xref="HGNC:HGNC:5343"
                     /db_xref="MIM:147625"
                     /translation="MSGHKCSYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKK
                     EDEHVVASDADLDAKLELFHSIQRTCLDLSKAIVLYQKRICFLSQEENELGKFLRSQG
                     FQDKTRAGKMMQATGKALCFSSQQRLALRNPLCRFHQEVETFRHRAISDTWLTVNRME
                     QCRTEYRGALLWMKDVSQELDPDLYKQMEKFRKVQTQVRLAKKNFDKLKMDVCQKVDL
                     LGASRCNLLSHMLATYQTTLLHFWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKK
                     LVEKEEKKKINQQESTDAAVQEPSQLISLEEENQRKESSSFKTEDGKSILSALDKGST
                     HTACSGPIDELLDMKSEEGACLGPVAGTPEPEGADKDDLLLLSEIFNASSLEEGEFSK
                     EWAAVFGDGQVKEPVPTMALGEPDPKAQTGSGFLPSQLLDQNMKDLQASLQEPAKAAS
                     DLTAWFSLFADLDPLSNPDAVGKTDKEHELLNA"
     exon            171..336
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            337..409
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            410..533
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            534..732
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            733..858
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            859..957
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1055
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1108
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1109..1171
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1213
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1483
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..2344
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1715..1720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: AATAAA"
     regulatory      1720..1725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: AATGAA"
     polyA_site      1753
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="major polyA site"
     polyA_site      1756
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="major polyA site"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ICA1"
                     /gene_synonym="ICA69; ICAp69"
                     /note="hexamer: ATTAAA"
     polyA_site      2344
                     /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 cagttatccc
      181 tgggacttac aggatcgata tgctcaagat aagtcagttg taaataagat gcaacagaaa
      241 tattgggaga cgaagcaggc ctttattaaa gccacaggga agaaggaaga tgaacatgtt
      301 gttgcctctg acgcggacct ggatgccaag ctagagctgt ttcattcaat tcagagaacc
      361 tgtctggact tatcgaaagc aattgtactc tatcaaaaga ggatatgttt cttgtctcaa
      421 gaagaaaacg aactgggaaa atttcttcga tcccaaggtt tccaagataa aaccagagca
      481 ggaaagatga tgcaagcgac aggaaaggcc ctctgctttt cttcccagca aaggttggcc
      541 ttacgaaatc ctttgtgtcg atttcaccaa gaagtggaga cttttcggca tcgggccatc
      601 tcagatactt ggctgacggt gaaccgcatg gaacagtgca ggacggaata tagaggagca
      661 ctattatgga tgaaggacgt gtctcaggag cttgatccag acctctacaa gcaaatggag
      721 aagttcagga aggtacaaac acaagtgcgc cttgcaaaaa aaaactttga caaattgaag
      781 atggatgttt gtcaaaaagt ggatcttctt ggagcgagca gatgcaatct cttgtctcac
      841 atgctagcaa cataccagac cactctgctt catttttggg agaaaacttc tcacactatg
      901 gcagccatcc atgagagttt caaaggttat caaccatatg aatttactac tttaaagagc
      961 ttacaagacc ctatgaaaaa attagttgag aaagaagaga agaagaaaat caaccagcag
     1021 gaaagtacag atgcagccgt gcaggagccg agccaattaa tttcattaga ggaagaaaac
     1081 cagcgcaagg aatcctctag ttttaagact gaagatggaa aaagtatttt atctgcctta
     1141 gacaaaggct ctacacatac tgcatgctca ggacccatag atgaactatt agacatgaaa
     1201 tctgaggaag gtgcttgcct gggaccagtg gcagggaccc cggaacctga aggtgctgac
     1261 aaagatgacc tgctgctgtt gagtgagatc ttcaatgctt cctccttgga agagggcgag
     1321 ttcagcaaag agtgggccgc tgtgtttgga gacggccaag tgaaggagcc agtgcccact
     1381 atggccctgg gagagccaga ccccaaggcc cagacaggct caggtttcct tccttcgcag
     1441 cttttagacc aaaatatgaa agacttacag gcctcgctac aagaacctgc taaggctgcc
     1501 tcagacctga ctgcctggtt cagcctcttc gctgacctcg acccactctc aaatcctgat
     1561 gctgttggga aaaccgataa agaacacgaa ttgctcaatg catgaatctg tacccttcgg
     1621 gagggcactc acatgccgcc cccagcagct cccctggggg ctagcagaag tataaagtga
     1681 tcagtatgct gttttaataa ttatgtgcca ttttaataaa atgaaagggt caacggccct
     1741 gtttatattg gtataattat ttactcttat ttggtataaa gggttttcgt gtatctctat
     1801 gtggatctaa ataatacagg attgtctaga agcggtttcc aggccaccgc tctcctgcct
     1861 acatcccatc atggctgctg cggtgtcact gggctaccgt gagatccaag ttgaaatcag
     1921 aagcctactt tgatggtagg tttgaatgac gtgtcctaca gcctcagagg cagcaggagg
     1981 ctagcaaagc ttaaatgcct ccttctctgc ccccagcctc tgtccccctt ggaggagggc
     2041 tgtaggaaga ttccctcttc ctgccaagcc accttccagt gagctctgga tgaagctctg
     2101 gccaaccaaa gacactgtcc ccacagcagg tgcctggtgg gccacgtgtt ctcacactgg
     2161 tggaggagct gggcttctgt ccaaggcaca aaccttacta tggaaagcag ccatatttgc
     2221 agataccact gtctcctttt gtcctcttcg tggctggaat tcaaaagcat gtatttctga
     2281 agcctcttgt gacattgttt tttttttttt tttaattaaa cagaaaagat atttgacatg
     2341 caaa
//
