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

    Gene ID: 3382, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ICA1provided by HGNC
    Official Full Name
    islet cell autoantigen 1provided by HGNC
    Primary source
    HGNC:HGNC:5343
    See related
    Ensembl:ENSG00000003147 MIM:147625; AllianceGenome:HGNC:5343
    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]
    Expression
    Ubiquitous expression in testis (RPKM 10.6), heart (RPKM 7.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ICA1 in Genome Data Viewer
    Location:
    7p21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (8113184..8262555, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (8231684..8381157, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (8152814..8302185, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene peptidylprolyl isomerase like 4 pseudogene Neighboring gene MPRA-validated peak6363 silencer Neighboring gene glucocorticoid induced 1 Neighboring gene uncharacterized LOC105375142 Neighboring gene NANOG hESC enhancer GRCh37_chr7:8144287-8144833 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25654 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25655 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:8164462-8165254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25657 Neighboring gene NANOG hESC enhancer GRCh37_chr7:8186642-8187159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25658 Neighboring gene uncharacterized LOC124901587 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:8254569-8255768 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:8261122-8261678 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:8342998-8343560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:8343561-8344122 Neighboring gene ICA1 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:8391097-8391728 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:8391729-8392358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:8473803-8474350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:8474351-8474898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:8474899-8475446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:8480847-8481347 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:8482526-8482705 Neighboring gene neurexophilin 1 Neighboring gene uncharacterized LOC105375144 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:8783491-8783991 Neighboring gene Sharpr-MPRA regulatory region 4649 Neighboring gene ribosomal protein L9 pseudogene 19

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ICA69 autoantibodies in primary Sjögren's syndrome. Gordon TP, et al. Lupus, 2004. PMID 15303579
    2. Islet cell autoantigen 69 antibodies in IDDM. Martin S, et al. Diabetologia, 1996 Jun. PMID 8781774
    3. ICA69 is expressed equally in the human endocrine and exocrine pancreas. Mally MI, et al. Diabetologia, 1996 Apr. PMID 8777998
    4. Glutamic acid decarboxylase and other autoantigens in IDDM. Nepom GT. Curr Opin Immunol, 1995 Dec. PMID 8679127
    5. Islet cell autoantigen 69 kDa (ICA69) is preferentially expressed in the human islets of Langerhans than exocrine pancreas. Stassi G, et al. Diabetologia, 1997 Jan. PMID 9028728

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ICA1 affects APP processing through the PICK1-PKCalpha signaling pathway.
      Title: ICA1 affects APP processing through the PICK1-PKCα signaling pathway.
    2. Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior
      Title: Novel SRF-ICA1L Fusions in Cellular Myoid Neoplasms With Potential For Malignant Behavior.
    3. 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.
    4. Novel association was found between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1.
      Title: Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
    5. 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.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. ICA69 as a novel Rab2 effector and its role in regulating the early transport of insulin secretory granule proteins
      Title: ICA69 is a novel Rab2 effector regulating ER-Golgi trafficking in insulinoma cells.
    9. The exon A promoter exhibits greater activity in islet cells, whereas the exon B promoter more efficiently activates transcription in neuronal cells.
      Title: Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI 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.
    EBI GWAS Catalog
    Genome-wide association study of intraocular pressure identifies the GLCCI1/ICA1 region as a glaucoma susceptibility locus.
    EBI GWAS Catalog
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    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 GOA

    Function Evidence Code Pubs
    enables membrane curvature sensor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    islet cell autoantigen 1
    Names
    69 kDa islet cell autoantigen
    diabetes mellitus type I autoantigen
    islet cell autoantigen 1, 69kDa
    islet cell autoantigen p69
    p69
    testicular tissue protein Li 162

    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_001136020.3 → NP_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) encodes isoform a. Variants 1, 2, 3, 5, and 6 all encode the same isoform (a).
      Source sequence(s)
      AC006042, AK292106, BU728575, DA154134
      Consensus CDS
      CCDS34602.1
      UniProtKB/Swiss-Prot
      A8K7U1, B3FTQ2, P78506, Q05084, Q13824, Q96HG3
      UniProtKB/TrEMBL
      A0A024RA29, A0A3B3IST8
      Related
      ENSP00000385570.3, ENST00000402384.8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    2. NM_001276478.2 → NP_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. Variants 4, 7, 8, 9, and 10 all encode the same isoform (b).
      Source sequence(s)
      AC006042, BC008640, BU728575, DB010744
      Consensus CDS
      CCDS64595.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    3. NM_001350819.2 → NP_001337748.1  islet cell autoantigen 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 2, 3, and 6, encodes isoform a.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS34602.1
      UniProtKB/Swiss-Prot
      A8K7U1, B3FTQ2, P78506, Q05084, Q13824, Q96HG3
      UniProtKB/TrEMBL
      A0A024RA29, A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    4. NM_001350820.2 → NP_001337749.1  islet cell autoantigen 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 2, 3, and 5, encodes isoform a.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS34602.1
      UniProtKB/Swiss-Prot
      A8K7U1, B3FTQ2, P78506, Q05084, Q13824, Q96HG3
      UniProtKB/TrEMBL
      A0A024RA29, A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    5. NM_001350821.2 → NP_001337750.1  islet cell autoantigen 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 4, 8, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS64595.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    6. NM_001350823.2 → NP_001337752.1  islet cell autoantigen 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 4, 7, 9, and 10, encodes isoform b.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS64595.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      Related
      ENSP00000265577.7, ENST00000265577.11
      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 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    7. NM_001350824.2 → NP_001337753.1  islet cell autoantigen 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 4, 7, 8, and 10, encodes isoform b.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS64595.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    8. NM_001350825.2 → NP_001337754.1  islet cell autoantigen 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 4, 7, 8, and 9, encodes isoform b.
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS64595.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    9. NM_001350826.2 → NP_001337755.1  islet cell autoantigen 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes the longest isoform (c).
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS87478.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262 → 512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    10. NM_001350827.2 → NP_001337756.1  islet cell autoantigen 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes the longest isoform (c).
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS87478.1
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262 → 512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    11. NM_001350828.2 → NP_001337757.1  islet cell autoantigen 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13), as well as variant 14, encodes isoform d.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    12. NM_001350829.2 → NP_001337758.1  islet cell autoantigen 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14), as well as variant 13, encodes isoform d.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    13. NM_001350830.2 → NP_001337759.1  islet cell autoantigen 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) encodes isoform e.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 490
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    14. NM_001350831.2 → NP_001337760.1  islet cell autoantigen 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16), as well as variants 17 and 18, encodes isoform f.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    15. NM_001350832.2 → NP_001337761.1  islet cell autoantigen 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17), as well as variants 16 and 18, encodes isoform f.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    16. NM_001350833.2 → NP_001337762.1  islet cell autoantigen 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (18), as well as variants 16 and 17, encodes isoform f.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    17. NM_001350834.2 → NP_001337763.1  islet cell autoantigen 1 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (19) encodes isoform g.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 461
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    18. NM_001350835.2 → NP_001337764.1  islet cell autoantigen 1 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (20), as well as variants 21 and 22, encodes isoform h.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      E9PDL4
      Conserved Domains (2) summary
      cd07661
      Location:13 → 182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187 → 409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    19. NM_001350836.2 → NP_001337765.1  islet cell autoantigen 1 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (21), as well as variants 20 and 22, encodes isoform h.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      E9PDL4
      Conserved Domains (2) summary
      cd07661
      Location:13 → 182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187 → 409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    20. NM_001350837.2 → NP_001337766.1  islet cell autoantigen 1 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (22), as well as variants 20 and 21, encodes isoform h.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      E9PDL4
      Conserved Domains (2) summary
      cd07661
      Location:13 → 182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187 → 409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    21. NM_001350838.2 → NP_001337767.1  islet cell autoantigen 1 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (23) encodes isoform i.
      Source sequence(s)
      AC006042, AC007009
      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      pfam04629
      Location:193 → 408
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
      cl12013
      Location:53 → 193
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    22. NM_004968.4 → NP_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, 3, 5, and 6 all encode the same isoform (a).
      Source sequence(s)
      AC006042, BC008640, BU728575, DB010744, L01100
      Consensus CDS
      CCDS34602.1
      UniProtKB/Swiss-Prot
      A8K7U1, B3FTQ2, P78506, Q05084, Q13824, Q96HG3
      UniProtKB/TrEMBL
      A0A024RA29, A0A3B3IST8
      Related
      ENSP00000385651.2, ENST00000406470.6
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    23. NM_022307.3 → NP_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, 3, 5, and 6 all encode the same isoform (a).
      Source sequence(s)
      AC006042, AC007009
      Consensus CDS
      CCDS34602.1
      UniProtKB/Swiss-Prot
      A8K7U1, B3FTQ2, P78506, Q05084, Q13824, Q96HG3
      UniProtKB/TrEMBL
      A0A024RA29, A0A3B3IST8
      Related
      ENSP00000379908.3, ENST00000396675.7
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261 → 483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    RNA

    1. NR_146926.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006042, AC007009

    2. NR_146927.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006042, AC007009

    3. NR_146928.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006042, AC007009

    4. NR_146929.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC006042, AC007009

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      8113184..8262555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446741.2 → XP_024302509.1  islet cell autoantigen 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    2. XM_011515349.2 → XP_011513651.1  islet cell autoantigen 1 isoform X2

      See identical proteins and their annotated locations for XP_011513651.1

      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262 → 512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    3. XM_011515351.2 → XP_011513653.1  islet cell autoantigen 1 isoform X3

      See identical proteins and their annotated locations for XP_011513653.1

      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    4. XM_011515353.3 → XP_011513655.1  islet cell autoantigen 1 isoform X3

      See identical proteins and their annotated locations for XP_011513655.1

      UniProtKB/TrEMBL
      A0A3B3IST8
      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 → 511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    5. XM_011515348.2 → XP_011513650.1  islet cell autoantigen 1 isoform X2

      See identical proteins and their annotated locations for XP_011513650.1

      UniProtKB/TrEMBL
      A0A3B3IST8
      Related
      ENSP00000403982.2, ENST00000422063.6
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262 → 512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    6. XM_024446740.2 → XP_024302508.1  islet cell autoantigen 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:110 → 313
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:318 → 569
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    7. XM_011515347.4 → XP_011513649.1  islet cell autoantigen 1 isoform X2

      See identical proteins and their annotated locations for XP_011513649.1

      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:53 → 256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262 → 512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    8. XM_011515354.2 → XP_011513656.1  islet cell autoantigen 1 isoform X4

      UniProtKB/TrEMBL
      E9PDL4
      Conserved Domains (2) summary
      cd07661
      Location:13 → 182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187 → 438
      ICA69; Islet cell autoantigen ICA69, C-terminal domain

    9. XM_011515355.4 → XP_011513657.1  islet cell autoantigen 1 isoform X5

      See identical proteins and their annotated locations for XP_011513657.1

      Conserved Domains (2) summary
      pfam04629
      Location:52 → 303
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
      cl12013
      Location:1 → 47
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    10. XM_011515356.4 → XP_011513658.1  islet cell autoantigen 1 isoform X5

      See identical proteins and their annotated locations for XP_011513658.1

      Conserved Domains (2) summary
      pfam04629
      Location:52 → 303
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
      cl12013
      Location:1 → 47
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    11. XM_011515357.3 → XP_011513659.1  islet cell autoantigen 1 isoform X6

      Conserved Domains (2) summary
      pfam04629
      Location:35 → 286
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
      cl12013
      Location:10 → 30
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RNA

    1. XR_002956426.2 RNA Sequence

    2. XR_002956427.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      8231684..8381157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358081.1 → XP_054214056.1  islet cell autoantigen 1 isoform X3

    2. XM_054358078.1 → XP_054214053.1  islet cell autoantigen 1 isoform X2

    3. XM_054358079.1 → XP_054214054.1  islet cell autoantigen 1 isoform X3

    4. XM_054358080.1 → XP_054214055.1  islet cell autoantigen 1 isoform X3

    5. XM_054358076.1 → XP_054214051.1  islet cell autoantigen 1 isoform X2

    6. XM_054358075.1 → XP_054214050.1  islet cell autoantigen 1 isoform X1

    7. XM_054358077.1 → XP_054214052.1  islet cell autoantigen 1 isoform X2

    8. XM_054358082.1 → XP_054214057.1  islet cell autoantigen 1 isoform X4

    9. XM_054358084.1 → XP_054214059.1  islet cell autoantigen 1 isoform X5

    10. XM_054358083.1 → XP_054214058.1  islet cell autoantigen 1 isoform X5

    11. XM_054358085.1 → XP_054214060.1  islet cell autoantigen 1 isoform X6

    RNA

    1. XR_008487587.1 RNA Sequence

    2. XR_008487588.1 RNA Sequence

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05084.2 GenPept UniProtKB/Swiss-Prot:Q05084

    Gene LinkOut

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

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