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ICA1 islet cell autoantigen 1 [ Homo sapiens (human) ]

Gene ID: 3382, updated on 26-May-2016
Official Symbol
ICA1provided by HGNC
Official Full Name
islet cell autoantigen 1provided by HGNC
Primary source
HGNC:HGNC:5343
See related
Ensembl:ENSG00000003147 HPRD:00971; MIM:147625; Vega:OTTHUMG00000152008
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICA69; ICAp69
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]
Orthologs
Location:
7p22
Exon count:
22
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (8113184..8262687, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (8152814..8302242, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase like 4 pseudogene Neighboring gene glucocorticoid induced 1 Neighboring gene uncharacterized LOC105375142 Neighboring gene uncharacterized LOC105375143 Neighboring gene uncharacterized LOC100505938 Neighboring gene neurexophilin 1 Neighboring gene uncharacterized LOC105375144 Neighboring gene ribosomal protein L9 pseudogene 19

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog
Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
NHGRI GWA Catalog
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif downregulates the expression of islet cell autoantigen 1 (ICA1, 69kDa) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

  • Type I diabetes mellitus, organism-specific biosystem (from KEGG)
    Type I diabetes mellitus, organism-specific biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
  • Type I diabetes mellitus, conserved biosystem (from KEGG)
    Type I diabetes mellitus, conserved biosystemType I diabetes mellitus is a disease that results from autoimmune destruction of the insulin-producing beta-cells. Certain beta-cell proteins act as autoantigens after being processed by antigen-pre...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
 
regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
regulation of protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
secretory granule membrane IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
islet cell autoantigen 1
Names
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001136020.2NP_001129492.1  islet cell autoantigen 1 isoform a

    See identical proteins and their annotated locations for NP_001129492.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC006042, AK292106, BU728575, DA154134
    Consensus CDS
    CCDS34602.1
    UniProtKB/Swiss-Prot
    Q05084
    UniProtKB/TrEMBL
    A0A024RA29
    Related
    ENSP00000385570, OTTHUMP00000200933, ENST00000402384, OTTHUMT00000324793
    Conserved Domains (2) summary
    pfam04629
    Location:261483
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  2. NM_001276478.1NP_001263407.1  islet cell autoantigen 1 isoform b

    See identical proteins and their annotated locations for NP_001263407.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate first exon (5' UTR) and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is one aa shorter compared to isoform a.
    Source sequence(s)
    AC006042, BC008640, BU728575, DA076379, DB010744
    Consensus CDS
    CCDS64595.1
    UniProtKB/Swiss-Prot
    Q05084
    Conserved Domains (2) summary
    pfam04629
    Location:260482
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  3. NM_004968.3NP_004959.2  islet cell autoantigen 1 isoform a

    See identical proteins and their annotated locations for NP_004959.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate first exon (5' UTR) compared to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AC006042, BC008640, BU728575, DA076379, DB010744, L01100
    Consensus CDS
    CCDS34602.1
    UniProtKB/Swiss-Prot
    Q05084
    UniProtKB/TrEMBL
    A0A024RA29
    Related
    ENSP00000385651, ENST00000406470
    Conserved Domains (2) summary
    pfam04629
    Location:261483
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  4. NM_022307.2NP_071682.1  islet cell autoantigen 1 isoform a

    See identical proteins and their annotated locations for NP_071682.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also referred to as IS10) has an alternate first exon and uses an alternate splice junction, both in the 5' UTR, compared to variant 3. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    AA581444, AI346099, BM716117, U26591
    Consensus CDS
    CCDS34602.1
    UniProtKB/Swiss-Prot
    Q05084
    UniProtKB/TrEMBL
    A0A024RA29
    Related
    ENSP00000379908, OTTHUMP00000200993, ENST00000396675, OTTHUMT00000324886
    Conserved Domains (2) summary
    pfam04629
    Location:261483
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    8113184..8262687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515351.1XP_011513653.1  

    See identical proteins and their annotated locations for XP_011513653.1

    Conserved Domains (2) summary
    pfam04629
    Location:260511
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  2. XM_011515346.1XP_011513648.1  

    See identical proteins and their annotated locations for XP_011513648.1

    UniProtKB/Swiss-Prot
    Q05084
    Conserved Domains (2) summary
    pfam04629
    Location:261512
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  3. XM_011515349.1XP_011513651.1  

    See identical proteins and their annotated locations for XP_011513651.1

    UniProtKB/Swiss-Prot
    Q05084
    Related
    ENSP00000403982, ENST00000422063
    Conserved Domains (2) summary
    pfam04629
    Location:261512
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  4. XM_011515345.1XP_011513647.1  

    See identical proteins and their annotated locations for XP_011513647.1

    UniProtKB/Swiss-Prot
    Q05084
    Conserved Domains (2) summary
    pfam04629
    Location:261512
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  5. XM_011515348.1XP_011513650.1  

    See identical proteins and their annotated locations for XP_011513650.1

    UniProtKB/Swiss-Prot
    Q05084
    Conserved Domains (2) summary
    pfam04629
    Location:261512
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  6. XM_005249735.3XP_005249792.1  

    See identical proteins and their annotated locations for XP_005249792.1

    UniProtKB/Swiss-Prot
    Q05084
    Related
    ENSP00000265577, OTTHUMP00000200934, ENST00000265577, OTTHUMT00000324794
    Conserved Domains (2) summary
    pfam04629
    Location:260482
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  7. XM_011515350.1XP_011513652.1  

    See identical proteins and their annotated locations for XP_011513652.1

    Conserved Domains (2) summary
    pfam04629
    Location:260511
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  8. XM_011515353.1XP_011513655.1  

    See identical proteins and their annotated locations for XP_011513655.1

    Conserved Domains (2) summary
    pfam04629
    Location:260511
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  9. XM_011515352.1XP_011513654.1  

    See identical proteins and their annotated locations for XP_011513654.1

    Conserved Domains (2) summary
    pfam04629
    Location:260511
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  10. XM_011515347.1XP_011513649.1  

    See identical proteins and their annotated locations for XP_011513649.1

    UniProtKB/Swiss-Prot
    Q05084
    Conserved Domains (2) summary
    pfam04629
    Location:261512
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:53256
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  11. XM_011515354.1XP_011513656.1  

    Conserved Domains (2) summary
    pfam04629
    Location:187438
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cd07661
    Location:13182
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
  12. XM_011515355.1XP_011513657.1  

    See identical proteins and their annotated locations for XP_011513657.1

    Conserved Domains (2) summary
    pfam04629
    Location:52303
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cl12013
    Location:147
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  13. XM_011515356.1XP_011513658.1  

    See identical proteins and their annotated locations for XP_011513658.1

    Conserved Domains (2) summary
    pfam04629
    Location:52303
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cl12013
    Location:147
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  14. XM_011515357.1XP_011513659.1  

    Conserved Domains (2) summary
    pfam04629
    Location:35286
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
    cl12013
    Location:1030
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

RNA

  1. XR_926934.1 RNA Sequence

  2. XR_926935.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    8152546..8301969 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_022308.1: Suppressed sequence

    Description
    NM_022308.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.