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Ica1 islet cell autoantigen 1 [ Mus musculus (house mouse) ]

Gene ID: 15893, updated on 11-Apr-2024

Summary

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Official Symbol
Ica1provided by MGI
Official Full Name
islet cell autoantigen 1provided by MGI
Primary source
MGI:MGI:96391
See related
Ensembl:ENSMUSG00000062995 AllianceGenome:MGI:96391
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
69kDa; ICA69
Summary
Predicted to enable membrane curvature sensor activity and protein domain specific binding activity. Predicted to be involved in regulation of protein-containing complex assembly and regulation of transport. Predicted to act upstream of or within neurotransmitter transport. Located in cytosol and synaptic vesicle membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and trigeminal nerve. Human ortholog(s) of this gene implicated in type 1 diabetes mellitus. Orthologous to human ICA1 (islet cell autoantigen 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 6.7), cortex adult (RPKM 5.0) and 19 other tissues See more
Orthologs
human all
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Genomic context

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Location:
6 A1; 6 4.38 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (8630527..8778531, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (8630527..8778540, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene glucocorticoid induced transcript 1 Neighboring gene F-box protein 5 Neighboring gene STARR-positive B cell enhancer ABC_E11313 Neighboring gene STARR-positive B cell enhancer ABC_E8826 Neighboring gene predicted gene, 35621 Neighboring gene STARR-seq mESC enhancer starr_15122 Neighboring gene STARR-positive B cell enhancer ABC_E8827 Neighboring gene STARR-positive B cell enhancer ABC_E9660 Neighboring gene STARR-seq mESC enhancer starr_15123 Neighboring gene predicted gene, 53310 Neighboring gene predicted gene, 53311 Neighboring gene STARR-positive B cell enhancer ABC_E8990 Neighboring gene STARR-seq mESC enhancer starr_15124 Neighboring gene STARR-seq mESC enhancer starr_15125 Neighboring gene predicted gene, 38765 Neighboring gene predicted gene, 35674

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Compromised central tolerance of ICA69 induces multiple organ autoimmunity. Fan Y, et al. J Autoimmun, 2014 Sep. PMID 25088457, Free PMC Article
  2. Identification of a quantitative trait locus regulating B cell-dominant infiltration into autoimmune sialitis lesions of the IQI mouse model of primary Sjögren's syndrome. Konno A, et al. Immunogenetics, 2007 Nov. PMID 17938903
  3. Molecular cloning of murine ICA69: diabetes-prone mice recognize the human autoimmune-epitope, Tep69, conserved in splice variants from both species. Karges W, et al. Biochim Biophys Acta, 1997 Apr 12. PMID 9128175
  4. Islet-cell autoantigen 69 mediates the antihyperalgesic effects of electroacupuncture on inflammatory pain by regulating spinal glutamate receptor subunit 2 phosphorylation through protein interacting with C-kinase 1 in mice. Han K, et al. Pain, 2019 Mar. PMID 30699097, Free PMC Article
  5. Loss of ICA69 potentiates long-lasting hyperalgesia after subcutaneous formalin injection into the mouse hindpaw. Li QJ, et al. Neurochem Res, 2015 Mar. PMID 25547463

See all (40) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Islet-cell autoantigen 69 accelerates liver regeneration by downregulating Tgfbr1 and attenuating Tgfbeta signaling in mice.
    Title: Islet-cell autoantigen 69 accelerates liver regeneration by downregulating Tgfbr1 and attenuating Tgfβ signaling in mice.
  2. The findings of this study indicated that ICA69 mediates the antihyperalgesic effects of EA on CFA-induced inflammatory pain by regulating spinal GluR2 through PICK1 in mice
    Title: Islet-cell autoantigen 69 mediates the antihyperalgesic effects of electroacupuncture on inflammatory pain by regulating spinal glutamate receptor subunit 2 phosphorylation through protein interacting with C-kinase 1 in mice.
  3. ICA69 deficiency promoted formalin-induced long-lasting pain hypersensitivity.
    Title: Loss of ICA69 potentiates long-lasting hyperalgesia after subcutaneous formalin injection into the mouse hindpaw.
  4. direct link between compromised thymic ICA69 expression and autoimmunity against multiple ICA69-expressing organs, and identify a potential novel mechanism for the development of multi-organ autoimmune diseases.
    Title: Compromised central tolerance of ICA69 induces multiple organ autoimmunity.
  5. C-terminal domain of ICA69 interacts with PICK1 and acts on trafficking of PICK1-PKCalpha complex and cerebellar plasticity.
    Title: C-terminal domain of ICA69 interacts with PICK1 and acts on trafficking of PICK1-PKCα complex and cerebellar plasticity.
  6. PICK1 and ICA69 are key regulators of the formation and maturation of insulin granules.
    Title: PICK1 and ICA69 control insulin granule trafficking and their deficiencies lead to impaired glucose tolerance.
  7. polymorphisms within the NOD Ica1 core promoter may determine AIRE-mediated down-regulation of ICA69 expression in medullary thymic epithelial cells.
    Title: Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.
  8. ICA69(null) nonobese diabetic mice develop diabetes, but resist disease acceleration by cyclophosphamide
    Title: ICA69(null) nonobese diabetic mice develop diabetes, but resist disease acceleration by cyclophosphamide.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables membrane curvature sensor activity ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within neurotransmitter transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neurotransmitter secretion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of transport IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi stack ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in secretory granule membrane ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
islet cell autoantigen 1
Names
69 kDa islet cell autoantigen
ICAp69
islet cell autoantigen 1, 69 kDa
islet cell autoantigen p69
p69

NCBI Reference Sequences (RefSeq)

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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_001252266.2 → NP_001239195.1  islet cell autoantigen 1 isoform 2

    See identical proteins and their annotated locations for NP_001239195.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1. Variants 2, 5, and 6 all encode the same isoform (2).
    Source sequence(s)
    AC158670
    UniProtKB/TrEMBL
    D3Z118
    Conserved Domains (2) summary
    cd07661
    Location:52 → 255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
    pfam04629
    Location:261 → 457
    ICA69; Islet cell autoantigen ICA69, C-terminal domain

  2. NM_001410043.1 → NP_001396972.1  islet cell autoantigen 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC158670
    UniProtKB/Swiss-Prot
    E9QLS3, P97362, P97411, P97954, Q99M40, Q9R2C4
    Related
    ENSMUSP00000111182.2, ENSMUST00000115520.8

  3. NM_001410044.1 → NP_001396973.1  islet cell autoantigen 1 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC158670
    UniProtKB/Swiss-Prot
    E9QLS3, P97362, P97411, P97954, Q99M40, Q9R2C4

  4. NM_001410045.1 → NP_001396974.1  islet cell autoantigen 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC158670

  5. NM_001410046.1 → NP_001396975.1  islet cell autoantigen 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC158670

  6. NM_001410047.1 → NP_001396976.1  islet cell autoantigen 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC158670

  7. NM_001410048.1 → NP_001396977.1  islet cell autoantigen 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC158670

  8. NM_001410049.1 → NP_001396978.1  islet cell autoantigen 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC158670
    UniProtKB/TrEMBL
    D3Z119
    Related
    ENSMUSP00000111180.2, ENSMUST00000115518.8

  9. NM_001410050.1 → NP_001396979.1  islet cell autoantigen 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC158670
    Related
    ENSMUSP00000117734.2, ENSMUST00000153390.8

  10. NM_010492.4 → NP_034622.3  islet cell autoantigen 1 isoform 1

    See identical proteins and their annotated locations for NP_034622.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform 1). Variants 1, 3, and 4 all encode the same isoform (1).
    Source sequence(s)
    AC158670
    Consensus CDS
    CCDS19911.1
    UniProtKB/Swiss-Prot
    E9QLS3, P97362, P97411, P97954, Q99M40, Q9R2C4
    UniProtKB/TrEMBL
    A5A8K4
    Related
    ENSMUSP00000040062.6, ENSMUST00000038403.12
    Conserved Domains (2) summary
    cd07661
    Location:52 → 255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
    pfam04629
    Location:260 → 478
    ICA69; Islet cell autoantigen ICA69, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    8630527..8778531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017321405.1 → XP_017176894.1  islet cell autoantigen 1 isoform X3

    Conserved Domains (1) summary
    pfam04629
    Location:82 → 294
    ICA69; Islet cell autoantigen ICA69, C-terminal domain

RNA

  1. XR_003956165.2 RNA Sequence

  2. XR_001785099.3 RNA Sequence

  3. XR_001785098.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P97411.3 GenPept UniProtKB/Swiss-Prot:P97411

Gene LinkOut

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