1. Gene
  2. ICA1 - islet cell autoantigen 1 Gene

ICA1 - islet cell autoantigen 1 Gene

Homo sapiens

Also known as ICA69; ICAp69

Gene ID: 3382 | Gene type: protein coding

About ICA1

Cytogenetic location: 7p21.3 Genomic coordinates (GRCh38): 7:8,113,184-8,262,555 (from NCBI)

This gene has 19 transcripts (splice variants), 213 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 10.6), heart (RPKM 7.8) and 23 other tissues.

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 mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

ICA1 Products(23)

mRNA Protein Name
NM_001136020.3 NP_001129492.1 islet cell autoantigen 1 isoform a
NM_001276478.2 NP_001263407.1 islet cell autoantigen 1 isoform b
NM_001350819.2 NP_001337748.1 islet cell autoantigen 1 isoform a
NM_001350820.2 NP_001337749.1 islet cell autoantigen 1 isoform a
NM_001350821.2 NP_001337750.1 islet cell autoantigen 1 isoform b
NM_001350823.2 NP_001337752.1 islet cell autoantigen 1 isoform b
NM_001350824.2 NP_001337753.1 islet cell autoantigen 1 isoform b
NM_001350825.2 NP_001337754.1 islet cell autoantigen 1 isoform b
NM_001350826.2 NP_001337755.1 islet cell autoantigen 1 isoform c
NM_001350827.2 NP_001337756.1 islet cell autoantigen 1 isoform c
NM_001350828.2 NP_001337757.1 islet cell autoantigen 1 isoform d
NM_001350829.2 NP_001337758.1 islet cell autoantigen 1 isoform d
NM_001350830.2 NP_001337759.1 islet cell autoantigen 1 isoform e
NM_001350831.2 NP_001337760.1 islet cell autoantigen 1 isoform f
NM_001350832.2 NP_001337761.1 islet cell autoantigen 1 isoform f
NM_001350833.2 NP_001337762.1 islet cell autoantigen 1 isoform f
NM_001350834.2 NP_001337763.1 islet cell autoantigen 1 isoform g
NM_001350835.2 NP_001337764.1 islet cell autoantigen 1 isoform h
NM_001350836.2 NP_001337765.1 islet cell autoantigen 1 isoform h
NM_001350837.2 NP_001337766.1 islet cell autoantigen 1 isoform h
NM_001350838.2 NP_001337767.1 islet cell autoantigen 1 isoform i
NM_004968.4 NP_004959.2 islet cell autoantigen 1 isoform a
NM_022307.3 NP_071682.1 islet cell autoantigen 1 isoform a
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables membrane curvature sensor activity IDA
IDA: Inferred from direct assay
29768204 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi membrane IDA
IDA: Inferred from direct assay
12682071 GOA
located in secretory granule membrane IDA
IDA: Inferred from direct assay
12682071 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ICA1 Protein Structure

Arfaptin

Arfaptin: Arfaptin-like domain (22 - 249)

ICA69

ICA69: Islet cell autoantigen ICA69, C-terminal domain (261 - 483)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
Protein Preferred Names Protein Names

islet cell autoantigen 1

69 kDa islet cell autoantigen

ICA1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
ICA1 Q05084 CCDC28A Homo sapiens Q7Z6N9 25416956
Intra
ICA1 Q05084 MBD3 Homo sapiens O95983 25416956
Intra
ICA1 Q05084 RAB2B Homo sapiens Q8WUD1 25416956
Intra
ICA1 Q05084 RAB2B Homo sapiens Q8WUD1 25416956
Intra
ICA1 Q05084 RAB2B Homo sapiens Q8WUD1 25416956
Intra
ICA1 Q05084 RAB2A Homo sapiens P61019 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ICA1 Proteins

Cat. No. Product Name Accession Purity
HY-P72274 Islet cell autoantigen 1/ICA1, Human (P.pastoris, His) Q05084-3 (M1-A482) ≥95%

Related Diseases

Diseases Alias
Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm

Diabetes Mellitus

Diabetes

Type 1 Diabetes Mellitus

Diabetes Mellitus, Insulin-Dependent

Diabetes Mellitus Type 1

IDDM

Type 1 Diabetes

Insulin-Dependent Diabetes Mellitus

T1D

Juvenile-Onset Diabetes

Jod

Diabetes Mellitus, Type 1

Diabetes Mellitus, Insulin-Dependent-1

Type I Diabetes Mellitus

Autoimmune Diabetes

Juvenile Diabetes

Juvenile-Onset Diabetes Mellitus

Diabetes, Insulin Dependent

Insulin-Dependent Diabetes Mellitus-1

Diabetes Mellitus Insulin-Dependent

Diabetes Autoimmune

Diabetes Mellitus, Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 1, Susceptibility To

Diabetes Type 1

Type I Diabetes

Diabetes, Autoimmune

T1dm - [Type 1 Diabetes Mellitus]

Iddm - [Insulin Dependent Diabetes Mellitus]

Type 1 Iddm

Juvenile Diabetes Mellitus Without Compications

Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

Juvenile-Onset Diabetes Mellitus Without Compications

Ketosis-Prone Diabetes Mellitus Without Compications

Juvenile-Onset-Type Diabetes Mellitus Without Compications

Cataract 3, Multiple Types

Cataract 3 Multiple Types

CTRCT3

Cca2

Cataract, Congenital, Cerulean Type, 2

Cataract 3, Multiple Types, With Or Without Microcornea

Cataract 3 Multiple Types With Or Without Microcornea

Congenital Cerulean Type Cataract 2

Congenital Cataract Blue Dot Type 2

Congenital Cataract Cerulean Type 2

Cspc

Sutural Cataract With Punctate And Cerulean Opacities

Type 1 Diabetes Mellitus 5

Diabetes Mellitus, Insulin-Dependent, 5

Latent Autoimmune Diabetes In Adults

IDDM5

Insulin-Dependent Diabetes Mellitus 5

T1D5

Lada

Type 1.5 Diabetes

Diabetes Mellitus, Insulin-Dependent, Type 5

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus ICA1 RGD RGD:621465
Mus musculus ICA1 MGD MGI:96391
Canis familiaris ICA1 VGNC VGNC:41854
Macaca mulatta ICA1 VGNC VGNC:73551
Felis catus ICA1 VGNC VGNC:67684
Bos taurus ICA1 VGNC VGNC:30023
Others ICA1 NCBI