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

    Gene ID: 3382, updated on 10-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001136020.3NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    2. NM_001276478.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    3. NM_001350819.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    4. NM_001350820.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    5. NM_001350821.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    6. NM_001350823.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    7. NM_001350824.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    8. NM_001350825.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260482
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    9. NM_001350826.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    10. NM_001350827.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    11. NM_001350828.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    12. NM_001350829.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    13. NM_001350830.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260490
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    14. NM_001350831.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    15. NM_001350832.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    16. NM_001350833.2NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261462
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    17. NM_001350834.2NP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260461
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    18. NM_001350835.2NP_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:13182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    19. NM_001350836.2NP_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:13182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    20. NM_001350837.2NP_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:13182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187409
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    21. NM_001350838.2NP_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:193408
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
      cl12013
      Location:53193
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    22. NM_004968.4NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261483
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    23. NM_022307.3NP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:261483
      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_024446741.2XP_024302509.1  islet cell autoantigen 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    2. XM_011515349.2XP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    3. XM_011515351.2XP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    4. XM_011515353.3XP_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:52255
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:260511
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    5. XM_011515348.2XP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    6. XM_024446740.2XP_024302508.1  islet cell autoantigen 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IST8
      Conserved Domains (2) summary
      cd07661
      Location:110313
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:318569
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    7. XM_011515347.4XP_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:53256
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:262512
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    8. XM_011515354.2XP_011513656.1  islet cell autoantigen 1 isoform X4

      UniProtKB/TrEMBL
      E9PDL4
      Conserved Domains (2) summary
      cd07661
      Location:13182
      BAR_ICA69; The Bin/Amphiphysin/Rvs (BAR) domain of Islet Cell Autoantigen 69-kDa
      pfam04629
      Location:187438
      ICA69; Islet cell autoantigen ICA69, C-terminal domain
    9. XM_011515355.4XP_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: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
    10. XM_011515356.4XP_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: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
    11. XM_011515357.3XP_011513659.1  islet cell autoantigen 1 isoform X6

      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_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_054358081.1XP_054214056.1  islet cell autoantigen 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IST8
    2. XM_054358078.1XP_054214053.1  islet cell autoantigen 1 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IST8
    3. XM_054358079.1XP_054214054.1  islet cell autoantigen 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IST8
    4. XM_054358080.1XP_054214055.1  islet cell autoantigen 1 isoform X3

      UniProtKB/TrEMBL
      A0A3B3IST8
    5. XM_054358076.1XP_054214051.1  islet cell autoantigen 1 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IST8
    6. XM_054358075.1XP_054214050.1  islet cell autoantigen 1 isoform X1

      UniProtKB/TrEMBL
      A0A3B3IST8
    7. XM_054358077.1XP_054214052.1  islet cell autoantigen 1 isoform X2

      UniProtKB/TrEMBL
      A0A3B3IST8
    8. XM_054358082.1XP_054214057.1  islet cell autoantigen 1 isoform X4

      UniProtKB/TrEMBL
      E9PDL4
    9. XM_054358084.1XP_054214059.1  islet cell autoantigen 1 isoform X5

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

    11. XM_054358085.1XP_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.