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ESYT1 (extended synaptotagmin protein 1)

Identity

Alias_namesFAM62A
family with sequence similarity 62 (C2 domain containing), member A
extended synaptotagmin-like protein 1
Alias_symbol (synonym)MBC2
KIAA0747
Other alias
HGNC (Hugo) ESYT1
LocusID (NCBI) 23344
Atlas_Id 52922
Location 12q13.2  [Link to chromosome band 12q13]
Location_base_pair Starts at 56521986 and ends at 56538460 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHI3L1 (1q32.1) / ESYT1 (12q13.2)ESYT1 (12q13.2) / ESYT1 (12q13.2)ESYT1 (12q13.2) / MED14 (Xp11.4)
UPP1 (7p12.3) / ESYT1 (12q13.2)ESYT1 12q13.2 / MED14 Xp11.4

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)ESYT1   29534
Cards
Entrez_Gene (NCBI)ESYT1  23344  extended synaptotagmin protein 1
AliasesFAM62A; MBC2
GeneCards (Weizmann)ESYT1
Ensembl hg19 (Hinxton)ENSG00000139641 [Gene_View]  chr12:56521986-56538460 [Contig_View]  ESYT1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000139641 [Gene_View]  chr12:56521986-56538460 [Contig_View]  ESYT1 [Vega]
ICGC DataPortalENSG00000139641
TCGA cBioPortalESYT1
AceView (NCBI)ESYT1
Genatlas (Paris)ESYT1
WikiGenes23344
SOURCE (Princeton)ESYT1
Genetics Home Reference (NIH)ESYT1
Genomic and cartography
GoldenPath hg19 (UCSC)ESYT1  -     chr12:56521986-56538460 +  12q13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ESYT1  -     12q13.2   [Description]    (hg38-Dec_2013)
EnsemblESYT1 - 12q13.2 [CytoView hg19]  ESYT1 - 12q13.2 [CytoView hg38]
Mapping of homologs : NCBIESYT1 [Mapview hg19]  ESYT1 [Mapview hg38]
OMIM616670   
Gene and transcription
Genbank (Entrez)AB018290 AJ346011 AK022790 AK025463 AK025878
RefSeq transcript (Entrez)NM_001184796 NM_015292
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)ESYT1
Cluster EST : UnigeneHs.632729 [ NCBI ]
CGAP (NCI)Hs.632729
Alternative Splicing GalleryENSG00000139641
Gene ExpressionESYT1 [ NCBI-GEO ]   ESYT1 [ EBI - ARRAY_EXPRESS ]   ESYT1 [ SEEK ]   ESYT1 [ MEM ]
Gene Expression Viewer (FireBrowse)ESYT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23344
GTEX Portal (Tissue expression)ESYT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSJ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSJ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSJ8
Splice isoforms : SwissVarQ9BSJ8
PhosPhoSitePlusQ9BSJ8
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    SMP_LBD   
Domain families : Pfam (Sanger)C2 (PF00168)    SMP_LBD (PF17047)   
Domain families : Pfam (NCBI)pfam00168    pfam17047   
Domain families : Smart (EMBL)C2 (SM00239)  
Conserved Domain (NCBI)ESYT1
DMDM Disease mutations23344
Blocks (Seattle)ESYT1
SuperfamilyQ9BSJ8
Human Protein AtlasENSG00000139641
Peptide AtlasQ9BSJ8
HPRD14367
IPIIPI00022143   IPI00746655   IPI00902463   IPI01020944   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSJ8
IntAct (EBI)Q9BSJ8
FunCoupENSG00000139641
BioGRIDESYT1
STRING (EMBL)ESYT1
ZODIACESYT1
Ontologies - Pathways
QuickGOQ9BSJ8
Ontology : AmiGOprotein binding  plasma membrane  lipid transport  lipid binding  membrane  integral component of endoplasmic reticulum membrane  organelle membrane contact site  metal ion binding  
Ontology : EGO-EBIprotein binding  plasma membrane  lipid transport  lipid binding  membrane  integral component of endoplasmic reticulum membrane  organelle membrane contact site  metal ion binding  
NDEx NetworkESYT1
Atlas of Cancer Signalling NetworkESYT1
Wikipedia pathwaysESYT1
Orthology - Evolution
OrthoDB23344
GeneTree (enSembl)ENSG00000139641
Phylogenetic Trees/Animal Genes : TreeFamESYT1
HOVERGENQ9BSJ8
HOGENOMQ9BSJ8
Homologs : HomoloGeneESYT1
Homology/Alignments : Family Browser (UCSC)ESYT1
Gene fusions - Rearrangements
Fusion : MitelmanESYT1/MED14 [12q13.2/Xp11.4]  
Fusion: TCGAESYT1 12q13.2 MED14 Xp11.4 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerESYT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ESYT1
dbVarESYT1
ClinVarESYT1
1000_GenomesESYT1 
Exome Variant ServerESYT1
ExAC (Exome Aggregation Consortium)ESYT1 (select the gene name)
Genetic variants : HAPMAP23344
Genomic Variants (DGV)ESYT1 [DGVbeta]
DECIPHER (Syndromes)12:56521986-56538460  ENSG00000139641
CONAN: Copy Number AnalysisESYT1 
Mutations
ICGC Data PortalESYT1 
TCGA Data PortalESYT1 
Broad Tumor PortalESYT1
OASIS PortalESYT1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICESYT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDESYT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ESYT1
DgiDB (Drug Gene Interaction Database)ESYT1
DoCM (Curated mutations)ESYT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ESYT1 (select a term)
intoGenESYT1
Cancer3DESYT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616670   
Orphanet
MedgenESYT1
Genetic Testing Registry ESYT1
NextProtQ9BSJ8 [Medical]
TSGene23344
GENETestsESYT1
Huge Navigator ESYT1 [HugePedia]
snp3D : Map Gene to Disease23344
BioCentury BCIQESYT1
ClinGenESYT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23344
Chemical/Pharm GKB GenePA165512688
Clinical trialESYT1
Miscellaneous
canSAR (ICR)ESYT1 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineESYT1
EVEXESYT1
GoPubMedESYT1
iHOPESYT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:05:02 CET 2017

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