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

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

Summary

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
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Genomic context

See Ica1 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001252266.2NP_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:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
    pfam04629
    Location:261457
    ICA69; Islet cell autoantigen ICA69, C-terminal domain
  2. NM_001410043.1NP_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_001410044.1NP_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_001410045.1NP_001396974.1  islet cell autoantigen 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC158670
  5. NM_001410046.1NP_001396975.1  islet cell autoantigen 1 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC158670
  6. NM_001410047.1NP_001396976.1  islet cell autoantigen 1 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC158670
  7. NM_001410048.1NP_001396977.1  islet cell autoantigen 1 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC158670
  8. NM_001410049.1NP_001396978.1  islet cell autoantigen 1 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC158670
    UniProtKB/TrEMBL
    D3Z119
    Related
    ENSMUSP00000111180.2, ENSMUST00000115518.8
  9. NM_001410050.1NP_001396979.1  islet cell autoantigen 1 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC158670
    Related
    ENSMUSP00000117734.2, ENSMUST00000153390.8
  10. NM_010492.4NP_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:52255
    BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
    pfam04629
    Location:260478
    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_017321405.1XP_017176894.1  islet cell autoantigen 1 isoform X3

    Conserved Domains (1) summary
    pfam04629
    Location:82294
    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