ICA1L Gene - Islet Cell Autoantigen 1 Like
Comprehensive genomic and proteomic analysis of ICA1L, a gene with potential roles in autoimmune and neurological disorders.
Gene Information Card
| Symbol | ICA1L |
|---|---|
| Full Name | Islet Cell Autoantigen 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.2 |
| NCBI Gene ID | 130026 ncbi.nlm.nih.gov/gene/130026 |
| Ensembl ID | ENSG00000163599 |
| UniProt ID | Q9H9C1 |
| OMIM ID | 609926 |
| HGNC ID | 28963 |
| Aliases | ICA1-like, p69, ICA69-like |
Description
ICA1L (Islet Cell Autoantigen 1 Like) is a protein-coding gene located on chromosome 2q33.2. It encodes a protein similar to islet cell autoantigen 1 (ICA1), which is involved in insulin secretion and autoimmune diabetes. ICA1L may play roles in vesicle trafficking, neurodevelopment, and autoimmunity. Expression is observed in brain, pancreas, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 1 | Potential autoantigen in pancreatic islet cells; homology to ICA1 suggests involvement in beta-cell destruction | Limited; inferred from ICA1 studies (OMIM 609926) |
| Neurodevelopmental disorders | Expression in brain suggests role in neuronal function; mutations may contribute to autism or intellectual disability | Speculative; no direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Testis | 6.1 | Low |
| Heart | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HeLa (cervical carcinoma) | 3.5 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Ile) | Missense | <0.01% | Unknown; not reported in ClinVar |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Unknown; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • secretory granule (GO:0030141) |
Pathways
• Insulin secretion (Reactome: R-HSA-422085)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
The ICA1L protein (UniProt Q9H9C1) is a 69 kDa cytoplasmic protein with homology to ICA1. It contains a coiled-coil domain and is predicted to localize to secretory granules. Its function is not fully characterized but may involve vesicle trafficking and autoantigen presentation in pancreatic islets.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ICA1L Knockout HEK293 Cell Line | EDJ-KQ9229 | Human | 130026 | 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 |
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