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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ICA1
islet cell autoantigen 1
Chromosome 7 · 7p21.3
NCBI Gene: 3382Ensembl: ENSG00000003147.20HGNC: HGNC:5343UniProt: A0A024RA29
58PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembrane curvature sensor activitysecretory granule membraneGolgi membranetype 1 diabetes mellitusAbruptio Placentaemalunion fractureJaundice
✦AI Summary

ICA1 (islet cell autoantigen 1) is a neuroendocrine protein with roles in neurotransmitter secretion and protein trafficking. The protein exhibits tissue-specific expression, with high levels in pancreatic islets, brain, and testis 1. Subcellularly, ICA1 localizes to the endoplasmic reticulum, Golgi complex, and secretory vesicles, suggesting involvement in protein processing and transport 1. ICA1 expression is regulated through alternative core promoters in a tissue-specific manner, with distinct regulatory elements in islet versus neuronal cells 2. In Alzheimer's disease pathology, ICA1 modulates amyloid precursor protein (APP) processing by regulating the PICK1-PKCα signaling pathway, promoting non-amyloid pathways and reducing pathogenic APP cleavage 3. ICA1 is implicated in type 1 diabetes (T1D) autoimmunity; polymorphisms in the ICA1 promoter increase binding of the autoimmune regulator (AIRE), reducing thymic ICA1 expression and potentially compromising self-tolerance 4. DNA methylation patterns of ICA1 differ between T1D patients and healthy individuals, with hypermethylation associated with altered expression in affected individuals 5. Additionally, ICA1 genetic variants show suggestive associations with germinal centre formation in primary Sjögren's syndrome, indicating broader autoimmune disease relevance 6.

Sources cited
1
ICA1 is highly expressed in brain, testis, and pancreatic islets; localizes to endoplasmic reticulum, Golgi, and vesicles; plays role in cellular protein trafficking and processing
PMID: 8603775
2
ICA1 has alternative core promoters with tissue-specific activity; exon A promoter active in islet cells, exon B promoter active in neuronal cells
PMID: 12409289
3
ICA1 regulates APP processing through PICK1-PKCα pathway; ICA1 expression decreased in AD patients and models; shifts APP toward non-amyloid processing
PMID: 38884369
4
ICA1 promoter polymorphisms in NOD mice increase AIRE binding, reducing ICA1 expression in thymic epithelial cells and potentially compromising self-tolerance
PMID: 22447927
5
ICA1 is hypermethylated in type 1 diabetes samples compared to healthy individuals; shows differential expression between T1D and healthy samples
PMID: 35773317
6
ICA1 SNPs show suggestive association with germinal centre-like structures in primary Sjögren's syndrome
PMID: 23606706
Disease Associationsⓘ20
type 1 diabetes mellitusOpen Targets
0.32Weak
Abruptio PlacentaeOpen Targets
0.31Weak
malunion fractureOpen Targets
0.31Weak
JaundiceOpen Targets
0.27Weak
thrombophiliaOpen Targets
0.27Weak
alcohol drinkingOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
autoimmune diseaseOpen Targets
0.04Suggestive
hepatorenocardiac degenerative fibrosisOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
Autosomal recessive systemic lupus erythematosusOpen Targets
0.03Suggestive
autosomal systemic lupus erythematosus type 16Open Targets
0.03Suggestive
diabetic ketoacidosisOpen Targets
0.03Suggestive
immune system diseaseOpen Targets
0.03Suggestive
type II hypersensitivity reaction diseaseOpen Targets
0.03Suggestive
skin diseaseOpen Targets
0.03Suggestive
pemphigus vulgarisOpen Targets
0.03Suggestive
autoimmune lymphoproliferative syndrome type 1Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ICA1LShared pathway100%OAS2Protein interaction100%PICK1Protein interaction96%RAB2AProtein interaction89%OAS3Protein interaction76%POFUT2Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
48%
Brain
28%
Lung
9%
Liver
9%
Ovary
2%
Gene Interaction Network
Click a node to explore
ICA1ICA1LOAS2PICK1RAB2AOAS3POFUT2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q05084
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.41–0.75]
RankingsWhere ICA1 stands among ~20K protein-coding genes
  • #7,878of 20,598
    Most Researched58
  • #5,935of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedICA1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.
PMID: 22447927
J Biol Chem · 2012
1.00
2
ICA1 affects APP processing through the PICK1-PKCα signaling pathway.
PMID: 38884369
CNS Neurosci Ther · 2024
0.90
3
Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus.
PMID: 12409289
J Biol Chem · 2003
0.80
4
Differentially methylated and expressed genes in familial type 1 diabetes.
PMID: 35773317
Sci Rep · 2022
0.70
5
Gene expression of islet cell antigen p69 in human, mouse, and rat.
PMID: 8603775
Diabetes · 1996
0.60