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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ICA1 Gene

protein-coding   GIFtS: 57
GCID: GC07M008119

islet cell autoantigen 1, 69kDa

(Previous name: islet cell autoantigen 1 (69kD) )
 Explore 7 diseases affiliated with
ICA1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ICA1    

Aliases
for ICA1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Islet Cell Autoantigen 1, 69kDa1 2     P691
ICAp691 2 3     Islet Cell Autoantigen 1 (69kD)1
Islet Cell Autoantigen P692 3     Diabetes Mellitus Type I Autoantigen2
69 KDa Islet Cell Autoantigen2 3     Islet Cell Autoantigen 12
ICA692 3     Islet Cell Autoantigen 1 Isoform2

External Ids:    HGNC: 53431   Entrez Gene: 33822   Ensembl: ENSG000000031477   OMIM: 1476255   UniProtKB: Q050843   

Export aliases for ICA1 gene to outside databases

Previous GC identifers: GC07M007797 GC07M007897 GC07M007926 GC07M008002


Summaries
for ICA1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for ICA1:
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)

UniProtKB/Swiss-Prot: ICA69_HUMAN, Q05084
Function: May play a role in neurotransmitter secretion (By similarity)

Gene Wiki entry for ICA1


Genomic Views
for ICA1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ICA1 gene promoter:
         Nkx6-1   NF-kappaB   NF-E2   NF-E2 p45   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ICA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ICA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ICA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22   Ensembl cytogenetic band:  7p21.3   HGNC cytogenetic band: 7p22

ICA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ICA1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M008119:  view genomic region     (about GC identifiers)

Start:
 8,152,814 bp from pter      End:
 8,302,317 bp from pter
Size:
 149,504 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 8,198,979-8,348,327     

Proteins
for ICA1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: ICA69_HUMAN, Q05084 (See protein sequence)
Recommended Name: Islet cell autoantigen 1  
Size: 483 amino acids; 54645 Da
Subcellular location: Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein (Potential).
Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein (Potential). Cytoplasmic vesicle,
secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein (Potential). Note=Predominantly cytosolic.
Also exists as a membrane-bound form which has been found associated with synaptic vesicles and also with the Golgi
complex and immature secretory granules
Secondary accessions: A8K7U1 P78506 Q13824

Explore the universe of human proteins at neXtProt for ICA1: NX_Q05084

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q05084

    • ICA1 Protein expression data from MOPED and PaxDb:    About this image 
    ICA1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001129492.1  NP_001263407.1  NP_004959.2  NP_071682.1  

    ENSEMBL proteins: 
     ENSP00000385570   ENSP00000265577   ENSP00000379908   ENSP00000341603   ENSP00000410341  
     ENSP00000385305   ENSP00000386021   ENSP00000316074   ENSP00000398435   ENSP00000397496  
     ENSP00000393314   ENSP00000406722   ENSP00000385651   ENSP00000403982  

    Human Recombinant Protein Products for ICA1: 
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    OriGene Purified Protein: ICA1
    OriGene Protein Over-expression Lysate (see all 3): ICA1
    OriGene Custom Protein Services for ICA1 
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    Novus Biologicals ICA1 Protein
    Novus Biologicals ICA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ICA1

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA12682071
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005795Golgi stack ----

    ICA1 for ontologies           About GeneDecksing



    ICA1 Antibody Products: 
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    Uscn ELISAs and CLIAs for ICA1

    Protein Domains /
    Families
    for ICA1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ICA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR024114 Islet_autoAg_Ica1/Ica1-like
     IPR010504 AH_dom
     IPR006723 Islet_autoAg_Ica1_C

    Graphical View of Domain Structure for InterPro Entry Q05084

    ProtoNet protein and cluster: Q05084

    2 Blocks protein families:
    IPB006723 Islet cell autoantigen ICA69 homologue
    IPB010504 Arfaptin-like


    UniProtKB/Swiss-Prot: ICA69_HUMAN, Q05084
    Similarity: Contains 1 AH domain


    Function
    for ICA1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ICA69_HUMAN, Q05084
    Function: May play a role in neurotransmitter secretion (By similarity)

         Genatlas biochemistry entry for ICA1:
    islet cell antigen 1,encoding p69 protein,candidate autoimmune target in insulin dependent diabetes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0019904protein domain specific binding IEA--
         
    ICA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ICA1:
     Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ica1):
     homeostasis/metabolism  immune system  mortality/aging  normal 

    ICA1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Ica1tm1Mdos for ICA1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ICA1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ICA1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ICA1:
    hsa-miR-3140-3p hsa-miR-9 hsa-miR-183 hsa-miR-3918
    SwitchGear 3'UTR luciferase reporter plasmid: ICA1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ICA1 (see all 7)
    OriGene shRNA RFP: ICA1
    OriGene siRNA: ICA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ICA1
    Sirion Biotech Custom design and validation of potent shRNA sequences against ICA1 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ICA1
    Sirion Biotech Customized adenovirus for overexpression of ICA1 
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ICA1 (see all 5)
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ICA1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ICA1
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ICA1


    Pathways & Interactions
    for ICA1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Allograft rejection
    		Type I diabetes mellitus0.67

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for ICA1):
        Type I diabetes mellitus


    ICA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ICA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/9 Interacting proteins for ICA1 (Q050843 ENSP000003799084) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT33BQ145253, ENSP000002516464I2D: score=2 STRING: ENSP00000251646
    STK16O757163, ENSP000003799644I2D: score=2 STRING: ENSP00000379964
    CNTFP264413, ENSP000003553704I2D: score=2 STRING: ENSP00000355370
    MKKSQ9NPJ13, ENSP000002460624I2D: score=1 STRING: ENSP00000246062
    MYCP011063I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006836neurotransmitter transport IEA--
    GO:0043496regulation of protein homodimerization activity ----

    ICA1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ICA1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ICA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ICA1
    2 Novoseek chemical compound relationships for ICA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 35.6 4 9054945 (1), 10886245 (1), 8647206 (1), 8777998 (1)
    tyrosine 0 2 9054945 (1), 10886245 (1)

    Search CenterWatch for drugs/clinical trials and news about ICA1 / ICA69 

    Transcripts
    for ICA1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for ICA1 gene (5 alternative transcripts): 
    NM_001136020.2  NM_001276478.1  NM_004968.3  NM_022307.2  NM_022308.1  

    Unigene Cluster for ICA1:

    Islet cell autoantigen 1, 69kDa
    Hs.487561  [show with all ESTs]
    Unigene Representative Sequence: NM_004968
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402384(uc010ktr.3 uc003srm.3 uc003sro.4 uc003srn.4)
    ENST00000265577 ENST00000396675 ENST00000339809 ENST00000455539 ENST00000401396
    ENST00000486677 ENST00000470696 ENST00000407906(uc003srs.1) ENST00000317367
    ENST00000490041 ENST00000447326 ENST00000476942 ENST00000430867 ENST00000457755
    ENST00000446305 ENST00000406470(uc003srq.3 uc003srr.3 uc010kts.3)
    ENST00000422063

    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate ICA1:
    hsa-miR-3140-3p hsa-miR-9 hsa-miR-183 hsa-miR-3918
    SwitchGear 3'UTR luciferase reporter plasmid: ICA1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ICA1 (see all 7)
    OriGene shRNA RFP: ICA1
    OriGene siRNA: ICA1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ICA1
    Sirion Biotech Custom design and validation of potent shRNA sequences against ICA1 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ICA1 (see all 4)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 3): ICA1 (NM_022307)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ICA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ICA1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ICA1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ICA1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ICA1

    Additional cDNA sequence: 

    AK292106.1 BC008640.2 EU416199.1 L01100.1 L21181.1 U26591.1 U37183.1 

    18 DOTS entries:

    DT.95181863  DT.452369  DT.100687709  DT.95181856  DT.86851562  DT.121092340  DT.100013159  DT.100767508 
    DT.95181866  DT.87015565  DT.100836789  DT.121092330  DT.121092353  DT.75102828  DT.95181855  DT.95181865 
    DT.120658835  DT.97858648 

    24/153 AceView cDNA sequences (see all 153):

    AA421512 BU070273 BX331325 AA916921 CR624499 AI285041 BX354959 BM853042 
    BU681497 CB134411 AI720028 BE549769 BI754058 BC008640 BG776267 BX464865 
    U37183 CR605198 AI554369 CB178778 AA482169 BM853686 BE736046 CR601104 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ICA1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
    SP1:                    -                             -                                                                           
    SP2:                    -                             -                                                                           
    SP3:                    -                             -                       -     -     -     -     -                           
    SP4:                          -     -     -     -     -     -     -     -     -     -     -     -     -                           
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for ICA1

    Expression
    for ICA1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ICA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGCCCCCAG
    ICA1 Expression
    About this image

    ICA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ICA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ICA1

    SOURCE GeneReport for Unigene cluster: Hs.487561

    UniProtKB/Swiss-Prot: ICA69_HUMAN, Q05084
    Tissue specificity: Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney,
    liver and thyroid

        SABiosciences Custom PCR Arrays for ICA1
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ICA1

    Orthologs
    for ICA1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ICA1 gene from 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ICA11 islet cell autoantigen 1, 69kDa 74.83(n)
    76.36(a)    		   420581  XM_418682.2  XP_418682.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ICA16
    		 --
    		 66(a)
    		 1 ↔ 1
    		 6(23805986-23858069)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC041225.12   -- 78.33(n)    BC041225.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.196422 Transcribed sequence with moderate similarity to protein more 76.13(n)    57094033 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG105661 , 3 CG105661 50(a)3
    47.24(n)1
    40.2(a)1    		   78B23
    403311  NM_141026.21  NP_649283.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ric-191 Protein RIC-19 48.38(n)
    38.06(a)    		   191757  NM_058815.3  NP_491216.2 


    ENSEMBL Gene Tree for ICA1 (if available)
    TreeFam Gene Tree for ICA1 (if available) 

    Paralogs
    for ICA1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ICA1 gene
    ICA1L2  
    3 SIMAP similar genes for ICA1 using alignment to 13 protein entries:     ICA69_HUMAN (see all proteins):
    ICAp69    ALS2CR14    ICA1L

    ICA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ICA1
    PGOHUM00000249015


    Genomic Variants
    for ICA1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3189 NCBI SNPs in ICA1 are shown (see all 3189)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs710147601,2
    		C--8152314(+) TGTGT-/GTGTG 
     TGTGTGT    TACAG     		2 -- ds50011Minor allele frequency- GTGTGTGTGTGT:0.00NA 2
    rs2000431401,2
    		C--8152318(-) ACACAC/TACACA 2 -- ds50010--------
    rs127026981,2
    		C,F,A,H--8152340(+) TGGCCT/CCAGGA 2 -- ds500113Minor allele frequency- C:0.46NS EA NA CSA WA 760
    rs77912321,2
    		C,A,H--8152574(+) TAATAG/CTGGCA 2 -- ds50014Minor allele frequency- C:0.00NS EA 420
    rs779254551,2
    		C,F--8152601(+) CAAATG/ATAAAA 2 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1159909481,2
    		--8152607(+) TAAAAC/TTGTGG 2 -- ds50011Minor allele frequency- T:0.01WA 118
    rs747199261,2
    		F--8152619(+) TCCCAC/TCCCTG 2 -- ds50011Minor allele frequency- T:0.03WA 118
    rs1157393561,2
    		F--8152659(+) CCTGCT/CGCTGC 2 -- ds50011Minor allele frequency- C:0.03WA 118
    rs1128852591,2
    		C--8152728(+) TCCTT-/CTCCTCTG 2 -- ds50011Minor allele frequency- CTC:0.00CSA 2
    rs624353921,2
    		C--8152742(+) CCCACC/TCCCAC 2 -- ds50011Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for ICA1 (8152814 - 8302317 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for ICA1
         8 CNVs: 81861 38689 81860 94366 64752 8547 94365 36716
         2 Indels: 99858 59633

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    Disorders / Diseases
    for ICA1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ICA1 for disorders           About GeneDecksing

    OMIM gene information: 147625    OMIM disorders: --

    7 diseases for ICA1:    About MalaCards
    diabetes mellitus    sjogren's syndrome    rheumatoid arthritis    insulinoma
    vitiligo    arthritis    thyroiditis

    7 Novoseek disease relationships for ICA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes mellitus insulin-dependent 69.2 4 9054945 (1), 10433084 (1), 8975715 (1), 8777998 (1)
    autoimmunity 63.3 5 8975715 (1), 9073547 (1), 10433097 (1), 8777998 (1) (see all 5)
    insulinoma 55.9 1 12682071 (1)
    pancreas exocrine 53.7 2 9028728 (1), 8777998 (1)
    mimicry 44.4 4 9313748 (3)
    rheumatoid arthritis 28 5 7758883 (2), 10433084 (2), 8647206 (1)
    autoimmune diseases 24.5 1 9054945 (1)

    Human Genome Epidemiology (HuGE) Navigator: ICA1 (4 documents)

    Export disorders for ICA1 gene to outside databases

    Publications
    for ICA1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ICA1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with ICA1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes. (PubMed id 7918678)1, 2, 3, 9 Miyazaki I.... Dosch H.-M. (1994)
    2. ICA69 is expressed equally in the human endocrine and exocrine pancreas. (PubMed id 8777998)1, 3, 9 Mally M.I....Otonkoski T. (1996)
    3. Islet cell autoantigen of 69 kDa is an arfaptin-related protein associated with the Golgi complex of insulinoma INS-1 cells. (PubMed id 12682071)1, 2, 9 Spitzenberger F.... Solimena M. (2003)
    4. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. (PubMed id 8975715)1, 2, 9 Gaedigk R.... Dosch H.-M. (1996)
    5. Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen. (PubMed id 8326004)1, 2 Pietropaolo M.... Eisenbarth G.S. (1993)
    6. Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus. (PubMed id 12409289)1, 9 Friday R.P....Pietropaolo M. (2003)
    7. Autoantibodies to the islet antigen ICA69 occur in IDDM and in rheumatoid arthritis. (PubMed id 7758883)1, 9 Martin S....Pfutzner A. (1995)
    8. Gene expression of islet cell antigen p69 in human, mouse, and rat. (PubMed id 8603775)1, 9 Karges W....Dosch H.M. (1996)
    9. T cell activation and anergy to islet cell antigen in type I diabetes. (PubMed id 7822811)1, 9 Miyazaki I.... Dosch H.M. (1995)
    10. ICA1 encoding p69, a protein linked to the development of type 1 diabetes, maps to human chromosome 7p22. (PubMed id 8162706)1, 9 Gaedigk R.... Dosch H.M. (1994)

    External Searches for ICA1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ICA1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3382 HGNC: 5343 AceView: ICA1 Ensembl:ENSG00000003147 euGenes: HUgn3382
    ECgene: ICA1 Kegg: 3382 H-InvDB: ICA1

    Other Databases showing ICA1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ICA1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ICA1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for ICA1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ICA1 gene:
    Search GeneIP for patents involving ICA1

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