ICA1 (islet cell autoantigen 1)

Gene

• Entrez ID: 3382
• Gene name: Islet cell autoantigen 1
• Gene symbol: ICA1
• Synonyms (NCBI Gene): ICA69, ICAp69
• Chromosome: 7
• Chromosome location: 7p21.3
• Summary: 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 mel

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1058364	hsa-miR-4428	CLIP-seq
MIRT1058365	hsa-miR-183	CLIP-seq
MIRT1058366	hsa-miR-3662	CLIP-seq
MIRT1058367	hsa-miR-4477a	CLIP-seq
MIRT1058368	hsa-miR-944	CLIP-seq
MIRT2245659	hsa-miR-3188	CLIP-seq
MIRT2245660	hsa-miR-4457	CLIP-seq
MIRT2245661	hsa-miR-513b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	12682071
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 29892012, 32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	8326004
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030667	Component	Secretory granule membrane	IBA
GO:0030667	Component	Secretory granule membrane	IDA	12682071
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0051046	Process	Regulation of secretion	IBA
GO:0097753	Process	Membrane bending	IBA
GO:0140090	Function	Membrane curvature sensor activity	IBA
GO:0140090	Function	Membrane curvature sensor activity	IDA	29768204

Other IDs

• MIM: 147625
• HGNC: 5343
• e!Ensembl: ENSG00000003147

Protein

• UniProt ID: Q05084
• Protein name: Islet cell autoantigen 1 (69 kDa islet cell autoantigen) (ICA69) (Islet cell autoantigen p69) (ICAp69) (p69)
• Protein function: May play a role in neurotransmitter secretion.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06456	Arfaptin	22 → 249	Arfaptin-like domain	Domain
  PF04629	ICA69	261 → 448	Islet cell autoantigen ICA69, C-terminal domain	Domain
  PF04629	ICA69	442 → 483	Islet cell autoantigen ICA69, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney, liver and thyroid.
• Sequence:

  MSGHKCSYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKKEDEHVVASDADLDAKL
  ELFHSIQRTCLDLSKAIVLYQKRICFLSQEENELGKFLRSQGFQDKTRAGKMMQATGKAL
  CFSSQQRLALRNPLCRFHQEVETFRHRAISDTWLTVNRMEQCRTEYRGALLWMKDVSQEL
  DPDLYKQMEKFRKVQTQVRLAKKNFDKLKMDVCQKVDLLGASRCNLLSHMLATYQTTLLH
  FWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKKLVEKEEKKKINQQESTDAAVQEPS
  QLISLEEENQRKESSSFKTEDGKSILSALDKGSTHTACSGPIDELLDMKSEEGACLGPVA
  GTPEPEGADKDDLLLLSEIFNASSLEEGEFSKEWAAVFGDGQVKEPVPTMALGEPDPKAQ
  TGSGFLPSQLLDQNMKDLQASLQEPAKAASDLTAWFSLFADLDPLSNPDAVGKTDKEHEL
  LNA

• Sequence length: 483

Pathways

KEGG:

Type I diabetes mellitus

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONJUNCTIVAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICA1-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10433084	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	22016809		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22016809	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	10433084	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12383988, 22447927, 8326004, 9054945, 9128175		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16012936		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11029035, 8326004, 9128175, 9693970		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11029035, 8326004, 9128175, 9693970		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10433084, 12409289, 35773317	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	24517144	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10433084, 22447927, 24517144, 27765528, 7758883, 7918678, 8162706, 8326004, 9054945, 9128175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eclampsia	Eclampsia	BEFREE	30941163		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	23836780		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	23836780	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	23836780	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28832686		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	24517144		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	24517144	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	7758883		★☆☆☆☆ Found in Text Mining only
Low Tension Glaucoma	Low Tension Glaucoma	BEFREE	28832686		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19223505, 19703789, 27447934		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30204596		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	22495974		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24517144, 7758883		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	24517144	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30204596		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	12409289	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21315177		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19223505, 19703789, 27447934, 30204596		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10433084, 7758883		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23255846	Associate	★☆☆☆☆ Found in Text Mining only