ID   ICA69_HUMAN             Reviewed;         483 AA.
AC   Q05084; P78506; Q13824;
DT   01-FEB-1995, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2002, sequence version 2.
DT   07-JUL-2009, entry version 74.
DE   RecName: Full=Islet cell autoantigen 1;
DE   AltName: Full=69 kDa islet cell autoantigen;
DE   AltName: Full=ICA69;
DE   AltName: Full=Islet cell autoantigen p69;
DE            Short=ICAp69;
DE            Short=p69;
GN   Name=ICA1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Pancreas;
RX   MEDLINE=93315668; PubMed=8326004;
RA   Pietropaolo M., Castano L., Babu S., Buelow R., Kuo Y.-L.S.,
RA   Martin S., Martin A., Powers A.C., Prochazka M., Naggert J.,
RA   Leiter E.H., Eisenbarth G.S.;
RT   "Islet cell autoantigen 69 kD (ICA69). Molecular cloning and
RT   characterization of a novel diabetes-associated autoantigen.";
RL   J. Clin. Invest. 92:359-371(1993).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Pancreatic islet;
RX   MEDLINE=95002197; PubMed=7918678; DOI=10.1016/0925-4439(94)90113-9;
RA   Miyazaki I., Gaedigk R., Hui M.F., Cheung R.K., Morkowski J.,
RA   Rajotte R.V., Dosch H.-M.;
RT   "Cloning of human and rat p69 cDNA, a candidate autoimmune target in
RT   type 1 diabetes.";
RL   Biochim. Biophys. Acta 1227:101-104(1994).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   MEDLINE=97131517; PubMed=8975715; DOI=10.1006/geno.1996.0641;
RA   Gaedigk R., Karges W., Hui M.F., Scherer S.W., Dosch H.-M.;
RT   "Genomic organization and transcript analysis of ICAp69, a target
RT   antigen in diabetic autoimmunity.";
RL   Genomics 38:382-391(1996).
RN   [4]
RP   SUBCELLULAR LOCATION.
RX   MEDLINE=22726686; PubMed=12682071; DOI=10.1074/jbc.M213222200;
RA   Spitzenberger F., Pietropaolo S., Verkade P., Habermann B.,
RA   Lacas-Gervais S., Mziaut H., Pietropaolo M., Solimena M.;
RT   "Islet cell autoantigen of 69 kDa is an arfaptin-related protein
RT   associated with the Golgi complex of insulinoma INS-1 cells.";
RL   J. Biol. Chem. 278:26166-26173(2003).
CC   -!- FUNCTION: May play a role in neurotransmitter secretion (By
CC       similarity).
CC   -!- INTERACTION:
CC       P26441:CNTF; NbExp=1; IntAct=EBI-1046751, EBI-1050897;
CC       Q14525:KRT33B; NbExp=1; IntAct=EBI-1046751, EBI-1049638;
CC       Q9HB66:MKKS; NbExp=1; IntAct=EBI-1046751, EBI-1054754;
CC       O75716:STK16; NbExp=1; IntAct=EBI-1046751, EBI-1046308;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol. Golgi apparatus
CC       membrane; Peripheral membrane protein (Potential). Cytoplasmic
CC       vesicle, secretory vesicle membrane; Peripheral membrane protein
CC       (Potential). Cytoplasmic vesicle, secretory vesicle, synaptic
CC       vesicle membrane; Peripheral membrane protein (Potential).
CC       Note=Predominantly cytosolic. Also exists as a membrane-bound form
CC       which has been found associated with synaptic vesicles and also
CC       with the Golgi complex and immature secretory granules.
CC   -!- TISSUE SPECIFICITY: Expressed abundantly in pancreas, heart and
CC       brain with low levels of expression in lung, kidney, liver and
CC       thyroid.
CC   -!- DISEASE: Identified as an autoantigen in insulin-dependent
CC       diabetes mellitus.
CC   -!- SIMILARITY: Contains 1 AH domain.
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DR   EMBL; L01100; AAA02564.1; -; mRNA.
DR   EMBL; L21181; AAA64927.1; -; mRNA.
DR   EMBL; U26591; AAB19033.1; -; mRNA.
DR   EMBL; U37183; AAC50935.1; -; mRNA.
DR   EMBL; U71264; AAB94738.1; -; Genomic_DNA.
DR   EMBL; U71251; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71252; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71253; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71255; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71256; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71257; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71258; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71259; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71260; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71261; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71262; AAB94738.1; JOINED; Genomic_DNA.
DR   EMBL; U71263; AAB94738.1; JOINED; Genomic_DNA.
DR   IPI; IPI00011606; -.
DR   PIR; I55598; I55598.
DR   RefSeq; NP_001129492.1; -.
DR   RefSeq; NP_004959.2; -.
DR   RefSeq; NP_071682.1; -.
DR   UniGene; Hs.487561; -.
DR   IntAct; Q05084; 4.
DR   PhosphoSite; Q05084; -.
DR   PeptideAtlas; Q05084; -.
DR   PRIDE; Q05084; -.
DR   Ensembl; ENSG00000003147; Homo sapiens.
DR   GeneID; 3382; -.
DR   KEGG; hsa:3382; -.
DR   UCSC; uc003srm.1; human.
DR   GeneCards; GC07M008119; -.
DR   H-InvDB; HIX0006481; -.
DR   HGNC; HGNC:5343; ICA1.
DR   HPA; HPA017646; -.
DR   MIM; 147625; gene.
DR   PharmGKB; PA38792; -.
DR   HOGENOM; Q05084; -.
DR   HOVERGEN; Q05084; -.
DR   OMA; Q05084; DQNMKDL.
DR   NextBio; 13370; -.
DR   ArrayExpress; Q05084; -.
DR   Bgee; Q05084; -.
DR   CleanEx; HS_ICA1; -.
DR   GermOnline; ENSG00000003147; Homo sapiens.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR   GO; GO:0000139; C:Golgi membrane; IDA:UniProtKB.
DR   GO; GO:0030667; C:secretory granule membrane; IDA:UniProtKB.
DR   GO; GO:0030672; C:synaptic vesicle membrane; ISS:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:IntAct.
DR   GO; GO:0006836; P:neurotransmitter transport; IEA:UniProtKB-KW.
DR   InterPro; IPR010504; Arfaptin.
DR   InterPro; IPR006723; ICA69.
DR   Gene3D; G3DSA:1.20.1270.60; Arfaptin; 1.
DR   Pfam; PF06456; Arfaptin; 1.
DR   Pfam; PF04629; ICA69; 1.
DR   PROSITE; PS50870; AH; 1.
PE   1: Evidence at protein level;
KW   Cell junction; Complete proteome; Cytoplasm; Cytoplasmic vesicle;
KW   Golgi apparatus; Membrane; Neurotransmitter transport; Synapse;
KW   Transport.
FT   CHAIN         1    483       Islet cell autoantigen 1.
FT                                /FTId=PRO_0000084130.
FT   DOMAIN       51    254       AH.
FT   CONFLICT     29     29       K -> R (in Ref. 1; AAA02564).
FT   CONFLICT     83     83       R -> G (in Ref. 2; AAA64927).
SQ   SEQUENCE   483 AA;  54645 MW;  1696F928EE7454C9 CRC64;
     MSGHKCSYPW DLQDRYAQDK SVVNKMQQKY WETKQAFIKA TGKKEDEHVV ASDADLDAKL
     ELFHSIQRTC LDLSKAIVLY QKRICFLSQE ENELGKFLRS QGFQDKTRAG KMMQATGKAL
     CFSSQQRLAL RNPLCRFHQE VETFRHRAIS DTWLTVNRME QCRTEYRGAL LWMKDVSQEL
     DPDLYKQMEK FRKVQTQVRL AKKNFDKLKM DVCQKVDLLG ASRCNLLSHM LATYQTTLLH
     FWEKTSHTMA AIHESFKGYQ PYEFTTLKSL QDPMKKLVEK EEKKKINQQE STDAAVQEPS
     QLISLEEENQ RKESSSFKTE DGKSILSALD KGSTHTACSG PIDELLDMKS EEGACLGPVA
     GTPEPEGADK DDLLLLSEIF NASSLEEGEF SKEWAAVFGD GQVKEPVPTM ALGEPDPKAQ
     TGSGFLPSQL LDQNMKDLQA SLQEPAKAAS DLTAWFSLFA DLDPLSNPDA VGKTDKEHEL
     LNA
//