ICA1 - islet cell autoantigen 1 Gene

Also Known as ICA69; ICAp69

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3382

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
Molecular Function GO Annotation Evidence References 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 References 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 References
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) ≥ 90%, as determined by reducing SDS-PAGE.

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