Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3382
Gene name Gene Name - the full gene name approved by the HGNC.	Islet cell autoantigen 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ICA1
Synonyms (NCBI Gene) Gene synonyms aliases	ICA69, ICAp69
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p21.3
Summary Summary of gene provided in NCBI Entrez 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 mel

Show/Hide all(8)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(24)

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

MIM	HGNC	e!Ensembl
147625	5343	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

Interactions

View interactions

	KEGG
	Type I diabetes mellitus

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	10433084
Autistic Disorder	Associate	22016809
Autoimmune Diseases	Associate	10433084
Cataract Age Related Nuclear	Associate	33213085
Diabetes Mellitus Type 1	Associate	10433084, 12409289, 35773317
Diabetes Mellitus Type 1	Stimulate	24517144
Glaucoma	Associate	23836780
Glaucoma Open Angle	Associate	23836780
Graves Disease	Associate	24517144
Multiple Sclerosis	Associate	24517144
Neuroblastoma	Associate	12409289
Uterine Cervical Neoplasms	Associate	23255846

ICA1 (islet cell autoantigen 1)