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 ge... See more...

Aliases for ICA1 Gene

Aliases for ICA1 Gene

  • Islet Cell Autoantigen 1 2 3 4 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 and Insulinoma. Among its related pathways are Allograft rejection. Gene Ontology (GO) annotations related to this gene include protein domain specific binding. An important paralog of this gene is ICA1L.

UniProtKB/Swiss-Prot Summary for ICA1 Gene

Gene Wiki entry for ICA1 Gene

Additional gene information for ICA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ICA1 Gene

Genomics for ICA1 Gene

GeneHancer (GH) Regulatory Elements for ICA1 Gene

Promoters and enhancers for ICA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J008260 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 505.7 +0.8 823 3.1 NRF1 MYC USF1 GTF2E2 JUND ZFX CTCF ZIC2 POLR2A CLOCK ENSG00000244239 ICA1 ENSG00000229970 LOC100505938 lnc-RPA3-8 piR-37972-604 lnc-NXPH1-4
GH07J008254 Enhancer 0.6 Ensembl ENCODE 18.1 +7.9 7887 1.6 FOXA1 MNT ZNF274 ZNF579 FOXA2 ICA1 ENSG00000233108 GLCCI1 lnc-RPA3-8 piR-37972-604 lnc-NXPH1-4
GH07J008248 Enhancer 0.5 Ensembl 21.3 +13.4 13386 3 FOXA2 ZNF316 MAFF MAFK SPI1 MAFG EMSY ICA1 piR-37972-604 lnc-RPA3-8 lnc-NXPH1-4
GH07J008245 Enhancer 0.5 Ensembl 18.7 +16.5 16486 2 ZNF316 MAFF MAFK BCOR ZNF146 MAFG ZMYM3 ZNF614 SMARCA5 EMSY ICA1 piR-37972-604 lnc-NXPH1-4 lnc-RPA3-8
GH07J008220 Enhancer 0.7 Ensembl ENCODE 11.5 +41.1 41087 2.8 USF1 HDAC2 NANOG CEBPG ATF4 SMARCA4 SP1 RBBP5 ENSG00000229970 ENSG00000244239 ICA1 lnc-RPA3-7 lnc-NXPH1-4 lnc-RPA3-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ICA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ICA1

Top Transcription factor binding sites by QIAGEN in the ICA1 gene promoter:
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • Nkx6-1

Genomic Locations for ICA1 Gene

Genomic Locations for ICA1 Gene
chr7:8,113,184-8,262,687
(GRCh38/hg38)
Size:
149,504 bases
Orientation:
Minus strand
chr7:8,152,814-8,302,317
(GRCh37/hg19)
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

No data available for DME Specific Peptides for ICA1 Gene

Domains & Families for ICA1 Gene

Gene Families for ICA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ICA1 Gene

Blocks:
  • Arfaptin-like
  • Islet cell autoantigen ICA69 homologue
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ICA1 Gene

GenScript: Design optimal peptide antigens:
  • Islet cell autoantigen p69 (ICA69_HUMAN)
  • Islet cell autoantigen ICA69 (Q9UHM5_HUMAN)
genes like me logo Genes that share domains with ICA1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ICA1 Gene

Function for ICA1 Gene

Molecular function for ICA1 Gene

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

Phenotypes From GWAS Catalog for ICA1 Gene

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:
  • Ica1 Ica1<tm1b(EUCOMM)Wtsi>
  • Ica1 Ica1<tm1Mdos>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ICA1

Clone 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
golgi apparatus 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

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:0005794 Golgi apparatus IEA --
GO:0005829 cytosol ISS,IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ICA1: view

Pathways & Interactions for ICA1 Gene

PathCards logo

SuperPathways 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: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

mRNA/cDNA for ICA1 Gene

24 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ICA1

Clone 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

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, MaxQB, and MOPED for ICA1 Gene



Protein tissue co-expression partners for ICA1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for ICA1 Gene

  • Nervous system(4.6)
  • Pancreas(4.5)
  • Intestine(4.3)
genes like me logo Genes that share expression patterns with ICA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ICA1 Gene

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 31 30
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ICA1 31 30
  • 92.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ICA1 31 30
  • 90.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ica1 30
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Ica1 17 31 30
  • 86.12 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 77 (a)
OneToMany
-- 31
  • 50 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ICA1 31
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves ICA1 31 30
  • 74.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ICA1 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ica1 30
  • 69.48 (n)
Str.15951 30
zebrafish
(Danio rerio)
Actinopterygii ica1 30
  • 64.89 (n)
CABZ01078431.1 31
  • 56 (a)
OneToOne
Dr.19642 30
fruit fly
(Drosophila melanogaster)
Insecta CG10566 31 32
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ric-19 31
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9836 31
  • 34 (a)
OneToMany
Cin.3297 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3297 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for ICA1: view image

Paralogs for ICA1 Gene

Paralogs for ICA1 Gene

(3) SIMAP similar genes for ICA1 Gene using alignment to 12 proteins:

  • ICA69_HUMAN
  • B9ZVM7_HUMAN
  • C9IZC7_HUMAN
  • C9J3Y4_HUMAN
  • C9J8Y3_HUMAN
  • E7ENI6_HUMAN
  • E9PDL4_HUMAN
  • F8WET5_HUMAN
  • Q6LCR0_HUMAN
  • Q96HG3_HUMAN
  • Q9UDQ6_HUMAN
  • Q9UHM5_HUMAN

Pseudogenes.org Pseudogenes for ICA1 Gene

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

Variants for ICA1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ICA1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
776206 Benign: not provided 8,158,650(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT
786104 Benign: not provided 8,232,629(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for ICA1 Gene

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

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

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)

Additional Variant Information for ICA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ICA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ICA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes mellitus
  • diabetes
insulinoma
  • islet cell tumor
diabetes mellitus, insulin-dependent
  • iddm
cataract 3, multiple types
  • ctrct3
- elite association - COSMIC cancer census association via MalaCards
Search ICA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ICA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 HM (Biochimica et biophysica acta 1994) 2 3 4 23 54
  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 (The Journal of biological chemistry 2003) 3 4 23 54
  3. ICA69 is expressed equally in the human endocrine and exocrine pancreas. (PMID: 8777998) Mally MI … Otonkoski T (Diabetologia 1996) 2 3 23 54
  4. Genomic organization and transcript analysis of ICAp69, a target antigen in diabetic autoimmunity. (PMID: 8975715) Gaedigk R … Dosch HM (Genomics 1996) 3 4 23 54
  5. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PMID: 20962850) Budarf ML … Rioux JD (Genes and immunity 2011) 3 41 54

Products for ICA1 Gene

Sources for ICA1 Gene