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Aliases for ICA1 Gene

Aliases for ICA1 Gene

  • Islet Cell Autoantigen 1 2 3 5
  • Islet Cell Autoantigen 1, 69kDa 2 3
  • 69 KDa Islet Cell Autoantigen 3 4
  • Islet Cell Autoantigen P69 3 4
  • ICAp69 3 4
  • ICA69 3 4
  • P69 3 4
  • Diabetes Mellitus Type I Autoantigen 3
  • Islet Cell Autoantigen 1 Isoform 3
  • Testicular Tissue Protein Li 162 3
  • Islet Cell Autoantigen 1 (69kD) 2

External Ids for ICA1 Gene

Previous GeneCards Identifiers for ICA1 Gene

  • GC07M007797
  • GC07M007897
  • GC07M007926
  • GC07M008002

Summaries for ICA1 Gene

Entrez Gene Summary for ICA1 Gene

  • 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]

GeneCards Summary for ICA1 Gene

ICA1 (Islet Cell Autoantigen 1) is a Protein Coding gene. Diseases associated with ICA1 include Diabetes Mellitus, Insulin-Dependent. Among its related pathways are Allograft rejection. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is ICA1L.

UniProtKB/Swiss-Prot for ICA1 Gene

  • May play a role in neurotransmitter secretion.

Gene Wiki entry for ICA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ICA1 Gene

Genomics for ICA1 Gene

Regulatory Elements for ICA1 Gene

Enhancers for ICA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F008220 0.8 ENCODE 11.4 +41.3 41268 1.4 SIN3A ZIC2 ZBTB40 YY1 ZNF335 FOSL1 ZNF316 ZNF366 POLR2A FOS ENSG00000229970 ICA1 ENSG00000244239 GC07P008190 LOC100505938
GH07F008254 0.4 ENCODE 17.9 +8.0 7996 0.9 MNT ICA1 LOC100505921 GLCCI1 LOC100505938 GC07P008190
GH07F008260 1.2 FANTOM5 ENCODE 5.8 +0.9 931 2.9 TBP ATF1 PKNOX1 CREB3L1 SIN3A YY1 GLIS2 ZNF366 FOS CREM ENSG00000244239 ICA1 LOC100505938 GC07P008190
GH07F008290 0.8 ENCODE 0.3 -28.3 -28312 0.6 PKNOX1 FEZF1 CEBPG ZIC2 RAD21 GATA3 CTBP1 ZNF366 RCOR1 EZH2 ENSG00000272328 ICA1
GH07F008296 0.8 ENCODE 0.3 -33.6 -33559 0.2 YBX3 CTCF ZNF644 RAD21 YY1 ZNF143 SMC3 MIXL1 THAP11 ZNF654 ENSG00000272328 ICA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ICA1 on UCSC Golden Path with GeneCards custom track

Promoters for ICA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001557269 787 2200 TBP ATF1 PKNOX1 CREB3L1 SIN3A YY1 ZNF366 FOS CREM ZNF263

Genomic Location for ICA1 Gene

Chromosome:
7
Start:
8,113,184 bp from pter
End:
8,262,687 bp from pter
Size:
149,504 bases
Orientation:
Minus strand

Genomic View for ICA1 Gene

Genes around ICA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ICA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ICA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ICA1 Gene

Proteins for ICA1 Gene

  • Protein details for ICA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05084-ICA69_HUMAN
    Recommended name:
    Islet cell autoantigen 1
    Protein Accession:
    Q05084
    Secondary Accessions:
    • A8K7U1
    • B3FTQ2
    • P78506
    • Q13824
    • Q96HG3

    Protein attributes for ICA1 Gene

    Size:
    483 amino acids
    Molecular mass:
    54645 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ICA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ICA1 Gene

Post-translational modifications for ICA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ICA1 Gene

Domains & Families for ICA1 Gene

Gene Families for ICA1 Gene

Suggested Antigen Peptide Sequences for ICA1 Gene

Graphical View of Domain Structure for InterPro Entry

Q05084

UniProtKB/Swiss-Prot:

ICA69_HUMAN :
  • Contains 1 AH domain.
Domain:
  • Contains 1 AH domain.
genes like me logo Genes that share domains with ICA1: view

Function for ICA1 Gene

Molecular function for ICA1 Gene

GENATLAS Biochemistry:
islet cell antigen 1,encoding p69 protein,candidate autoimmune target in insulin dependent diabetes
UniProtKB/Swiss-Prot Function:
May play a role in neurotransmitter secretion.

Gene Ontology (GO) - Molecular Function for ICA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with ICA1: view
genes like me logo Genes that share phenotypes with ICA1: view

Animal Models for ICA1 Gene

MGI Knock Outs for ICA1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ICA1 Gene

Localization for ICA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ICA1 Gene

Cytoplasm, cytosol. Golgi apparatus membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein. 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ICA1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ICA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 12682071
GO:0005737 cytoplasm IDA,TAS --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ICA1: view

Pathways & Interactions for ICA1 Gene

SuperPathway Contained pathways
1 Allograft rejection
genes like me logo Genes that share pathways with ICA1: view

Pathways by source for ICA1 Gene

1 KEGG pathway for ICA1 Gene

Gene Ontology (GO) - Biological Process for ICA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006836 neurotransmitter transport IEA --
GO:0050796 regulation of insulin secretion IEA --
genes like me logo Genes that share ontologies with ICA1: view

No data available for SIGNOR curated interactions for ICA1 Gene

Drugs & Compounds for ICA1 Gene

(1) Drugs for ICA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ICA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ICA1: view

Transcripts for ICA1 Gene

Unigene Clusters for ICA1 Gene

Islet cell autoantigen 1, 69kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ICA1 Gene

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:

Relevant External Links for ICA1 Gene

GeneLoc Exon Structure for
ICA1
ECgene alternative splicing isoforms for
ICA1

Expression for ICA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ICA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ICA1 Gene

This gene is overexpressed in Pancreas (x4.5).

Protein differential expression in normal tissues from HIPED for ICA1 Gene

This gene is overexpressed in Frontal cortex (34.1), Pancreas (22.8), and Prostate (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ICA1 Gene



Protein tissue co-expression partners for ICA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ICA1 Gene:

ICA1

SOURCE GeneReport for Unigene cluster for ICA1 Gene:

Hs.487561

mRNA Expression by UniProt/SwissProt for ICA1 Gene:

Q05084-ICA69_HUMAN
Tissue specificity: Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney, liver and thyroid.
genes like me logo Genes that share expression patterns with ICA1: view

Orthologs for ICA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ICA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ICA1 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia ICA1 34 35
  • 92.27 (n)
cow
(Bos Taurus)
Mammalia ICA1 34 35
  • 90.62 (n)
rat
(Rattus norvegicus)
Mammalia Ica1 34
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Ica1 34 16 35
  • 86.12 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 77 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ICA1 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ICA1 34 35
  • 74.83 (n)
lizard
(Anolis carolinensis)
Reptilia ICA1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ica1 34
  • 69.48 (n)
Str.15951 34
zebrafish
(Danio rerio)
Actinopterygii ica1 34
  • 64.89 (n)
CABZ01078431.1 35
  • 56 (a)
OneToOne
Dr.19642 34
fruit fly
(Drosophila melanogaster)
Insecta CG10566 36 35
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea ric-19 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9836 35
  • 34 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3297 34
Species where no ortholog for ICA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ICA1 Gene

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

Paralogs for ICA1 Gene

Paralogs for ICA1 Gene

Pseudogenes.org Pseudogenes for ICA1 Gene

genes like me logo Genes that share paralogs with ICA1: view

Variants for ICA1 Gene

Sequence variations from dbSNP and Humsavar for ICA1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1008038 -- 8,246,473(-) AGTTC(C/G)ACCTC intron-variant
rs10085428 -- 8,169,299(+) tggtg(A/G)ttttg intron-variant
rs10085429 -- 8,169,439(+) gccaa(A/G)ccatt intron-variant
rs10156021 -- 8,171,982(+) atttt(G/T)atttt intron-variant
rs10156066 -- 8,147,429(+) CCTGT(A/G)GTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ICA1 Gene

Variant ID Type Subtype PubMed ID
nsv819085 CNV insertion 19587683
nsv606054 CNV gain 21841781
nsv606053 CNV loss 21841781
nsv606052 CNV loss 21841781
nsv5634 CNV insertion 18451855
nsv528572 CNV loss 19592680
nsv464308 CNV gain 19166990
nsv464305 CNV gain 19166990
nsv442028 CNV loss 18776908
nsv1150490 CNV insertion 26484159
nsv1143181 CNV tandem duplication 24896259
nsv1140201 CNV insertion 24896259
nsv1124171 CNV deletion 24896259
nsv1119548 CNV insertion 24896259
nsv1075008 CNV deletion 25765185
esv3612102 CNV loss 21293372
esv2761144 CNV gain+loss 21179565
esv2752177 CNV gain 17911159
esv2733941 CNV deletion 23290073
esv2671104 CNV deletion 23128226
esv2563861 CNV insertion 19546169
esv23629 CNV loss 19812545
dgv6253n100 CNV gain 25217958
dgv11178n54 CNV gain 21841781

Variation tolerance for ICA1 Gene

Residual Variation Intolerance Score: 31.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ICA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ICA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ICA1 Gene

Disorders for ICA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ICA1 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
diabetes mellitus, insulin-dependent
  • diabetes, type 1
- elite association - COSMIC cancer census association via MalaCards
Search ICA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ICA1

Genetic Association Database (GAD)
ICA1
Human Genome Epidemiology (HuGE) Navigator
ICA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ICA1
genes like me logo Genes that share disorders with ICA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ICA1 Gene

Publications for ICA1 Gene

  1. Cloning of human and rat p69 cDNA, a candidate autoimmune target in type 1 diabetes. (PMID: 7918678) Miyazaki I. … Dosch H.-M. (Biochim. Biophys. Acta 1994) 2 3 4 22 64
  2. Islet cell autoantigen of 69 kDa is an arfaptin-related protein associated with the Golgi complex of insulinoma INS-1 cells. (PMID: 12682071) Spitzenberger F. … Solimena M. (J. Biol. Chem. 2003) 3 4 22 64
  3. ICA69 is expressed equally in the human endocrine and exocrine pancreas. (PMID: 8777998) Mally M.I. … Otonkoski T. (Diabetologia 1996) 2 3 22 64
  4. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. (PMID: 8975715) Gaedigk R. … Dosch H.-M. (Genomics 1996) 3 4 22 64
  5. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf M.L. … Rioux J.D. (Genes Immun. 2011) 3 46 64

Products for ICA1 Gene

Sources for ICA1 Gene

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