• Gene id: 3382

Gene Summary

• Gene Symbol: ICA1   Gene   UCSC   Ensembl
• Aliases: ICA69, ICAp69
• Gene name: islet cell autoantigen 1
• Alternate names: islet cell autoantigen 1, 69 kDa islet cell autoantigen, diabetes mellitus type I autoantigen, islet cell autoantigen 1 isoform, islet cell autoantigen 1, 69kDa, islet cell autoantigen p69, p69, testicular tissue protein Li 162,
• Gene location: 7p21.3 (8262686: 8113183)     Exons: 22     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 147625

Protein Summary

• Protein general information: Q05084  
  • Name: Islet cell autoantigen 1 (69 kDa islet cell autoantigen) (ICA69) (Islet cell autoantigen p69) (ICAp69) (p69)
  • Length: 483  
  • Mass: 54645
  • Tissue specificity: Expressed abundantly in pancreas, heart and brain with low levels of expression in lung, kidney, liver and thyroid.
• Sequence:

  MSGHKCSYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKKEDEHVVASDADLDAKLELFHSIQRTCLDLSK
  AIVLYQKRICFLSQEENELGKFLRSQGFQDKTRAGKMMQATGKALCFSSQQRLALRNPLCRFHQEVETFRHRAIS
  DTWLTVNRMEQCRTEYRGALLWMKDVSQELDPDLYKQMEKFRKVQTQVRLAKKNFDKLKMDVCQKVDLLGASRCN
  LLSHMLATYQTTLLHFWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKKLVEKEEKKKINQQESTDAAVQEPS
  QLISLEEENQRKESSSFKTEDGKSILSALDKGSTHTACSGPIDELLDMKSEEGACLGPVAGTPEPEGADKDDLLL
  LSEIFNASSLEEGEFSKEWAAVFGDGQVKEPVPTMALGEPDPKAQTGSGFLPSQLLDQNMKDLQASLQEPAKAAS
  DLTAWFSLFADLDPLSNPDAVGKTDKEHELLNA

• Structural information:
  • Protein Domains: (51..25-)
    (/note="AH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00294"-)
  • Interpro: IPR027267  IPR010504  IPR030796  IPR024114  IPR006723  
  • Prosite: PS50870
  • STRING: ENSP00000385570
• Other Databases: GeneCards:  ICA1  Malacards:  ICA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0051049	regulation of transport	IBA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0030667	secretory granule membrane	IEA	cellular component
GO:0050796	regulation of insulin secretion	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0140090	membrane curvature sensor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030658	transport vesicle membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030667	secretory granule membrane	IDA	cellular component
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0030672	synaptic vesicle membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04940	Type I diabetes mellitus

Diseases

Associated diseases	References
type 1 diabetes mellitus	PMID:8647206
type 1 diabetes mellitus	PMID:11751995
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881