ICA1 Gene - Islet Cell Autoantigen 1
Comprehensive gene card for ICA1: genomic context, expression, mutations, and clinical relevance
Gene Information Card
| Symbol | ICA1 |
|---|---|
| Full Name | Islet Cell Autoantigen 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 3382 ncbi.nlm.nih.gov/gene/3382 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q05084 |
| OMIM ID | 147630 |
| HGNC ID | 5323 |
| Aliases | ICA69, ICAp69 |
Description
ICA1 (islet cell autoantigen 1) encodes a protein known as ICA69, which is a major autoantigen in type 1 diabetes mellitus. The protein is involved in intracellular vesicle transport and is expressed in pancreatic islets, brain, and other tissues. Autoantibodies against ICA1 are frequently detected in patients with type 1 diabetes and may also be associated with other autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 1 Diabetes Mellitus | Autoantibodies against ICA1 contribute to beta-cell destruction | ClinVar, OMIM |
| Autoimmune Polyendocrine Syndrome | ICA1 autoantibodies as a serological marker | OMIM |
| Rheumatoid Arthritis | Elevated ICA1 autoantibodies reported in some studies | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| MCF7 | 6.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.124C>T | missense | <0.01% | Reported in ClinVar as benign |
| c.256G>A | missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ICA1.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in ICA1.
Dominant Negative (DN)
No dominant-negative mutations described for ICA1.
View complete mutation data：
Gene Ontology (GO)
| • intracellular protein transport (GO:0006886) | • membrane (GO:0016020) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
ICA1 encodes a 69 kDa protein (ICA69) that localizes to the Golgi apparatus and is involved in vesicle trafficking. It contains a coiled-coil domain and interacts with other transport proteins. The protein is a target of autoantibodies in type 1 diabetes and may play a role in insulin secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ICA1 Knockout HEK293 Cell Line | EDJ-KQ4959 | Human | 3382 | Details Get a Quote |
| ICA1L Knockout HEK293 Cell Line | EDJ-KQ9229 | Human | 130026 | Details Get a Quote |
| ICA1 Knockout HCT 116 Cell Line | EDJ-KQ27829 | Human | 3382 | Details Get a Quote |
| ICA1 Knockout HeLa Cell Line | EDJ-KQ27830 | Human | 3382 | Details Get a Quote |
| ICA1L Knockout HeLa Cell Line | EDJ-KQ34573 | Human | 130026 | Details Get a Quote |
| ICA1L Knockout A-549 Cell Line | EDJ-KQ35807 | Human | 130026 | Details Get a Quote |
| ICA1L Knockout HCT 116 Cell Line | EDJ-KQ35808 | Human | 130026 | Details Get a Quote |
| ICA1 Knockout A-549 Cell Line | EDJ-KQ62069 | Human | 3382 | Details Get a Quote |
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