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EMP1 (epithelial membrane protein 1)

Identity

Alias_symbol (synonym)TMP
CL-20
Other aliasEMP-1
HGNC (Hugo) EMP1
LocusID (NCBI) 2012
Atlas_Id 40448
Location 12p13.1  [Link to chromosome band 12p13]
Location_base_pair Starts at 13349602 and ends at 13369708 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACKR1 (1q23.2) / EMP1 (12p13.1)EMP1 (12p13.1) / DNAJA2 (16q11.2)EMP1 (12p13.1) / EMP1 (12p13.1)
EMP1 (12p13.1) / ETV6 (12p13.2)EMP1 (12p13.1) / TTC28-AS1 (22q12.1)IRF2 (4q35.1) / EMP1 (12p13.1)
EMP1 12p13.1 / ETV6 12p13.2

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)EMP1   3333
Cards
Entrez_Gene (NCBI)EMP1  2012  epithelial membrane protein 1
AliasesCL-20; EMP-1; TMP
GeneCards (Weizmann)EMP1
Ensembl hg19 (Hinxton)ENSG00000134531 [Gene_View]  chr12:13349602-13369708 [Contig_View]  EMP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000134531 [Gene_View]  chr12:13349602-13369708 [Contig_View]  EMP1 [Vega]
ICGC DataPortalENSG00000134531
TCGA cBioPortalEMP1
AceView (NCBI)EMP1
Genatlas (Paris)EMP1
WikiGenes2012
SOURCE (Princeton)EMP1
Genetics Home Reference (NIH)EMP1
Genomic and cartography
GoldenPath hg19 (UCSC)EMP1  -     chr12:13349602-13369708 +  12p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)EMP1  -     12p13.1   [Description]    (hg38-Dec_2013)
EnsemblEMP1 - 12p13.1 [CytoView hg19]  EMP1 - 12p13.1 [CytoView hg38]
Mapping of homologs : NCBIEMP1 [Mapview hg19]  EMP1 [Mapview hg38]
OMIM602333   
Gene and transcription
Genbank (Entrez)AK299388 AK308505 AK310798 AK312246 BC017854
RefSeq transcript (Entrez)NM_001423
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_009714 NW_004929383
Consensus coding sequences : CCDS (NCBI)EMP1
Cluster EST : UnigeneHs.719042 [ NCBI ]
CGAP (NCI)Hs.719042
Alternative Splicing GalleryENSG00000134531
Gene ExpressionEMP1 [ NCBI-GEO ]   EMP1 [ EBI - ARRAY_EXPRESS ]   EMP1 [ SEEK ]   EMP1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2012
GTEX Portal (Tissue expression)EMP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54849   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54849  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54849
Splice isoforms : SwissVarP54849
PhosPhoSitePlusP54849
Domaine pattern : Prosite (Expaxy)PMP22_1 (PS01221)    PMP22_2 (PS01222)   
Domains : Interpro (EBI)EMP_1    PMP22/EMP/MP20/Claudin    PMP22_EMP_MP20   
Domain families : Pfam (Sanger)PMP22_Claudin (PF00822)   
Domain families : Pfam (NCBI)pfam00822   
Conserved Domain (NCBI)EMP1
DMDM Disease mutations2012
Blocks (Seattle)EMP1
SuperfamilyP54849
Human Protein AtlasENSG00000134531
Peptide AtlasP54849
HPRD11892
IPIIPI00008880   IPI00815837   IPI01011135   IPI01012460   IPI00790494   IPI00910209   IPI01016047   IPI00789974   
Protein Interaction databases
DIP (DOE-UCLA)P54849
IntAct (EBI)P54849
FunCoupENSG00000134531
BioGRIDEMP1
STRING (EMBL)EMP1
ZODIACEMP1
Ontologies - Pathways
QuickGOP54849
Ontology : AmiGOprotein binding  plasma membrane  multicellular organism development  cell death  cell proliferation  epidermis development  membrane  integral component of membrane  cell growth  bleb assembly  
Ontology : EGO-EBIprotein binding  plasma membrane  multicellular organism development  cell death  cell proliferation  epidermis development  membrane  integral component of membrane  cell growth  bleb assembly  
NDEx NetworkEMP1
Atlas of Cancer Signalling NetworkEMP1
Wikipedia pathwaysEMP1
Orthology - Evolution
OrthoDB2012
GeneTree (enSembl)ENSG00000134531
Phylogenetic Trees/Animal Genes : TreeFamEMP1
HOVERGENP54849
HOGENOMP54849
Homologs : HomoloGeneEMP1
Homology/Alignments : Family Browser (UCSC)EMP1
Gene fusions - Rearrangements
Fusion : MitelmanEMP1/ETV6 [12p13.1/12p13.2]  
Fusion: TCGAEMP1 12p13.1 ETV6 12p13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMP1
dbVarEMP1
ClinVarEMP1
1000_GenomesEMP1 
Exome Variant ServerEMP1
ExAC (Exome Aggregation Consortium)EMP1 (select the gene name)
Genetic variants : HAPMAP2012
Genomic Variants (DGV)EMP1 [DGVbeta]
DECIPHER (Syndromes)12:13349602-13369708  ENSG00000134531
CONAN: Copy Number AnalysisEMP1 
Mutations
ICGC Data PortalEMP1 
TCGA Data PortalEMP1 
Broad Tumor PortalEMP1
OASIS PortalEMP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEMP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEMP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EMP1
DgiDB (Drug Gene Interaction Database)EMP1
DoCM (Curated mutations)EMP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EMP1 (select a term)
intoGenEMP1
Cancer3DEMP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602333   
Orphanet
MedgenEMP1
Genetic Testing Registry EMP1
NextProtP54849 [Medical]
TSGene2012
GENETestsEMP1
Huge Navigator EMP1 [HugePedia]
snp3D : Map Gene to Disease2012
BioCentury BCIQEMP1
ClinGenEMP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2012
Chemical/Pharm GKB GenePA27770
Clinical trialEMP1
Miscellaneous
canSAR (ICR)EMP1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEMP1
EVEXEMP1
GoPubMedEMP1
iHOPEMP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:00:05 CEST 2017

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