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Aliases for ICA1 Gene

Aliases for ICA1 Gene

  • 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
  • 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, 69kDa) 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ICA1 Gene at MOPED

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

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

No data available for Gene Families for ICA1 Gene

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

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for ICA1 Gene COMPARTMENTS Subcellular localization image for ICA1 gene
Compartment Confidence
golgi apparatus 5
cytosol 4

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 TAS 8326004
GO:0005829 cytosol ISS --
GO:0030054 cell junction IEA --
GO:0030658 transport vesicle membrane IEA --
genes like me logo Genes that share ontologies with ICA1: view

Pathways & Interactions for ICA1 Gene

SuperPathways for ICA1 Gene

Superpath 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: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
tyrosine Nutra 547

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
glutamate
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:

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 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, MOPED, and MaxQB for ICA1 Gene



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

Protein tissue co-expression partners for ICA1 Gene

Primer Products

In Situ Assay Products

Orthologs for ICA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ICA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ICA1 35
  • 90.62 (n)
  • 92.08 (a)
ICA1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ICA1 35
  • 92.27 (n)
  • 94.2 (a)
ICA1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ica1 35
  • 86.12 (n)
  • 88.91 (a)
Ica1 16
Ica1 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ICA1 35
  • 99.17 (n)
  • 99.17 (a)
ICA1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ica1 35
  • 87.85 (n)
  • 90 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ICA1 36
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ICA1 35
  • 74.83 (n)
  • 76.36 (a)
ICA1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ICA1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ica1 35
  • 69.48 (n)
  • 69.62 (a)
Str.15951 35
zebrafish
(Danio rerio)
Actinopterygii Dr.19642 35
ica1 35
  • 64.89 (n)
  • 68.45 (a)
CABZ01078431.1 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10566 37
  • 50 (a)
CG10566 36
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ric-19 36
  • 31 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3297 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9836 36
  • 34 (a)
OneToMany
Species with no ortholog for ICA1:
  • 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 MAF
rs874720 -- 8,178,162(-) AAGGG(A/G)ATGAA intron-variant, upstream-variant-2KB
rs874721 -- 8,178,590(-) TTTTT(A/T)AAAAA intron-variant
rs881451 -- 8,177,392(+) AACTG(A/G)GTTCA intron-variant, upstream-variant-2KB
rs881452 -- 8,177,624(+) TTTGC(C/T)TCTGT intron-variant, upstream-variant-2KB
rs887847 -- 8,140,152(+) TATTT(C/T)CCCAC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2752177 CNV Gain 17911159
nsv887492 CNV Gain 21882294
nsv464305 CNV Gain 19166990
esv2563861 CNV Insertion 19546169
nsv819085 CNV Insertion 19587683
esv2733941 CNV Deletion 23290073
nsv887493 CNV Gain 21882294
nsv442028 CNV CNV 18776908
esv2671104 CNV Deletion 23128226
esv23629 CNV Loss 19812545
nsv528572 CNV Loss 19592680
nsv464308 CNV Gain 19166990
nsv5634 CNV Insertion 18451855

Variation tolerance for ICA1 Gene

Residual Variation Intolerance Score: 31.52% 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

HapMap Linkage Disequilibrium report
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
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. ICA69 is expressed equally in the human endocrine and exocrine pancreas. (PMID: 8777998) Mally M.I. … Otonkoski T. (Diabetologia 1996) 2 23 67
  2. 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 23 67
  3. PICK1-ICA69 heteromeric BAR domain complex regulates synaptic targeting and surface expression of AMPA receptors. (PMID: 18032668) Cao M. … Xia J. (J. Neurosci. 2007) 23 67
  4. Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus. (PMID: 12409289) Friday R.P. … Pietropaolo M. (J. Biol. Chem. 2003) 23 67
  5. 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) 23 67

Products for ICA1 Gene

Sources for ICA1 Gene

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