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

    Gene ID: 15893, updated on 9-May-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. Islet cell autoantigen 69 kD (ICA69). Molecular cloning and characterization of a novel diabetes-associated autoantigen. Pietropaolo M, et al. J Clin Invest, 1993 Jul. PMID 8326004, Free PMC Article

    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)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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