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

Gene ID: 3382, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (8113184..8262555, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (8231684..8381157, complement)
105.20220307 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
  • 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. Alternative core promoters regulate tissue-specific transcription from the autoimmune diabetes-related ICA1 (ICA69) gene locus. Friday RP, et al. J Biol Chem, 2003 Jan 10. PMID 12409289
  3. Primary Sjögren's syndrome and deficiency of ICA69. Winer S, et al. Lancet, 2002 Oct 5. PMID 12383988
  4. Production of the islet cell antigen ICA69 (p69) with baculovirus expression system: analysis with a solid-phase time-resolved fluorescence method of sera from patients with IDDM and rheumatoid arthritis. Kerokoski P, et al. Autoimmunity, 1999. PMID 10433084
  5. Anti-BSA antibodies do not cross-react with the 69-kDa islet cell autoantigen ICA69. Rønningen KS, et al. J Autoimmun, 1998 Jun. PMID 9693970

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.
  6. 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.
  7. 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.
  8. 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_2023_10

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

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