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ICA1 (islet cell autoantigen 1)

Identity

Alias_namesislet cell autoantigen 1 (69kD)
islet cell autoantigen 1, 69kDa
Alias_symbol (synonym)ICAp69
ICA69
Other alias
HGNC (Hugo) ICA1
LocusID (NCBI) 3382
Atlas_Id 64489
Location 7p21.3  [Link to chromosome band 7p21]
Location_base_pair Starts at 8113185 and ends at 8262281 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ICA1 (7p21.3) / ICA1 (7p21.3)SUN1 (7p22.3) / ICA1 (7p21.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ICA1   5343
Cards
Entrez_Gene (NCBI)ICA1  3382  islet cell autoantigen 1
AliasesICA69; ICAp69
GeneCards (Weizmann)ICA1
Ensembl hg19 (Hinxton)ENSG00000003147 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000003147 [Gene_View]  chr7:8113185-8262281 [Contig_View]  ICA1 [Vega]
ICGC DataPortalENSG00000003147
TCGA cBioPortalICA1
AceView (NCBI)ICA1
Genatlas (Paris)ICA1
WikiGenes3382
SOURCE (Princeton)ICA1
Genetics Home Reference (NIH)ICA1
Genomic and cartography
GoldenPath hg38 (UCSC)ICA1  -     chr7:8113185-8262281 -  7p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ICA1  -     7p21.3   [Description]    (hg19-Feb_2009)
EnsemblICA1 - 7p21.3 [CytoView hg19]  ICA1 - 7p21.3 [CytoView hg38]
Mapping of homologs : NCBIICA1 [Mapview hg19]  ICA1 [Mapview hg38]
OMIM147625   
Gene and transcription
Genbank (Entrez)AA581444 AI346099 AK292106 AM393016 BC005922
RefSeq transcript (Entrez)NM_001136020 NM_001276478 NM_001350819 NM_001350820 NM_001350821 NM_001350823 NM_001350824 NM_001350825 NM_001350826 NM_001350827 NM_001350828 NM_001350829 NM_001350830 NM_001350831 NM_001350832 NM_001350833 NM_001350834 NM_001350835 NM_001350836 NM_001350837 NM_001350838 NM_004968 NM_022307 NM_022308
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ICA1
Cluster EST : UnigeneHs.487561 [ NCBI ]
CGAP (NCI)Hs.487561
Alternative Splicing GalleryENSG00000003147
Gene ExpressionICA1 [ NCBI-GEO ]   ICA1 [ EBI - ARRAY_EXPRESS ]   ICA1 [ SEEK ]   ICA1 [ MEM ]
Gene Expression Viewer (FireBrowse)ICA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3382
GTEX Portal (Tissue expression)ICA1
Human Protein AtlasENSG00000003147-ICA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05084   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05084  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05084
Splice isoforms : SwissVarQ05084
PhosPhoSitePlusQ05084
Domaine pattern : Prosite (Expaxy)AH (PS50870)   
Domains : Interpro (EBI)AH/BAR-dom    AH_dom    ICA1    Islet_autoAg_Ica1/Ica1-like    Islet_autoAg_Ica1_C   
Domain families : Pfam (Sanger)Arfaptin (PF06456)    ICA69 (PF04629)   
Domain families : Pfam (NCBI)pfam06456    pfam04629   
Domain families : Smart (EMBL)Arfaptin (SM01015)  ICA69 (SM01237)  
Conserved Domain (NCBI)ICA1
DMDM Disease mutations3382
Blocks (Seattle)ICA1
SuperfamilyQ05084
Human Protein Atlas [tissue]ENSG00000003147-ICA1 [tissue]
Peptide AtlasQ05084
HPRD00971
IPIIPI00011606   IPI00900288   IPI00872203   IPI00185760   IPI00007470   IPI00894458   IPI00894090   IPI00894031   IPI00893640   IPI00893785   IPI00893787   IPI00893325   
Protein Interaction databases
DIP (DOE-UCLA)Q05084
IntAct (EBI)Q05084
FunCoupENSG00000003147
BioGRIDICA1
STRING (EMBL)ICA1
ZODIACICA1
Ontologies - Pathways
QuickGOQ05084
Ontology : AmiGOGolgi membrane  molecular_function  protein binding  cytoplasm  cytosol  cytosol  neurotransmitter transport  protein domain specific binding  cell junction  secretory granule membrane  synaptic vesicle membrane  intracellular membrane-bounded organelle  regulation of insulin secretion  
Ontology : EGO-EBIGolgi membrane  molecular_function  protein binding  cytoplasm  cytosol  cytosol  neurotransmitter transport  protein domain specific binding  cell junction  secretory granule membrane  synaptic vesicle membrane  intracellular membrane-bounded organelle  regulation of insulin secretion  
Pathways : KEGGType I diabetes mellitus   
NDEx NetworkICA1
Atlas of Cancer Signalling NetworkICA1
Wikipedia pathwaysICA1
Orthology - Evolution
OrthoDB3382
GeneTree (enSembl)ENSG00000003147
Phylogenetic Trees/Animal Genes : TreeFamICA1
HOVERGENQ05084
HOGENOMQ05084
Homologs : HomoloGeneICA1
Homology/Alignments : Family Browser (UCSC)ICA1
Gene fusions - Rearrangements
Fusion: Tumor Portal ICA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerICA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ICA1
dbVarICA1
ClinVarICA1
1000_GenomesICA1 
Exome Variant ServerICA1
ExAC (Exome Aggregation Consortium)ENSG00000003147
GNOMAD BrowserENSG00000003147
Genetic variants : HAPMAP3382
Genomic Variants (DGV)ICA1 [DGVbeta]
DECIPHERICA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisICA1 
Mutations
ICGC Data PortalICA1 
TCGA Data PortalICA1 
Broad Tumor PortalICA1
OASIS PortalICA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICICA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDICA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ICA1
DgiDB (Drug Gene Interaction Database)ICA1
DoCM (Curated mutations)ICA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ICA1 (select a term)
intoGenICA1
Cancer3DICA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147625   
Orphanet
MedgenICA1
Genetic Testing Registry ICA1
NextProtQ05084 [Medical]
TSGene3382
GENETestsICA1
Target ValidationICA1
Huge Navigator ICA1 [HugePedia]
snp3D : Map Gene to Disease3382
BioCentury BCIQICA1
ClinGenICA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3382
Chemical/Pharm GKB GenePA29591
Clinical trialICA1
Miscellaneous
canSAR (ICR)ICA1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineICA1
EVEXICA1
GoPubMedICA1
iHOPICA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:51:11 CET 2017

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