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EMP1 (epithelial membrane protein 1)

Identity

Alias (NCBI)CL-20
EMP-1
TMP
HGNC (Hugo) EMP1
HGNC Alias symbTMP
CL-20
LocusID (NCBI) 2012
Atlas_Id 40448
Location 12p13.1  [Link to chromosome band 12p13]
Location_base_pair Starts at 13196726 and ends at 13219941 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)
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    epithelial membrane protein 1
AliasesCL-20; EMP-1; TMP
GeneCards (Weizmann)EMP1
Ensembl hg19 (Hinxton)ENSG00000134531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134531 [Gene_View]  ENSG00000134531 [Sequence]  chr12:13196726-13219941 [Contig_View]  EMP1 [Vega]
ICGC DataPortalENSG00000134531
TCGA cBioPortalEMP1
AceView (NCBI)EMP1
Genatlas (Paris)EMP1
SOURCE (Princeton)EMP1
Genetics Home Reference (NIH)EMP1
Genomic and cartography
GoldenPath hg38 (UCSC)EMP1  -     chr12:13196726-13219941 +  12p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EMP1  -     12p13.1   [Description]    (hg19-Feb_2009)
GoldenPathEMP1 - 12p13.1 [CytoView hg19]  EMP1 - 12p13.1 [CytoView hg38]
ImmunoBaseENSG00000134531
Genome Data Viewer NCBIEMP1 [Mapview hg19]  
OMIM602333   
Gene and transcription
Genbank (Entrez)AK299388 AK308505 AK310798 AK312246 BC017854
RefSeq transcript (Entrez)NM_001423
Consensus coding sequences : CCDS (NCBI)EMP1
Gene ExpressionEMP1 [ NCBI-GEO ]   EMP1 [ EBI - ARRAY_EXPRESS ]   EMP1 [ SEEK ]   EMP1 [ MEM ]
Gene Expression Viewer (FireBrowse)EMP1 [ Firebrowse - Broad ]
GenevisibleExpression of EMP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2012
GTEX Portal (Tissue expression)EMP1
Human Protein AtlasENSG00000134531-EMP1 [pathology]   [cell]   [tissue]
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
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
SuperfamilyP54849
AlphaFold pdb e-kbP54849   
Human Protein Atlas [tissue]ENSG00000134531-EMP1 [tissue]
HPRD11892
Protein Interaction databases
DIP (DOE-UCLA)P54849
IntAct (EBI)P54849
BioGRIDEMP1
STRING (EMBL)EMP1
ZODIACEMP1
Ontologies - Pathways
QuickGOP54849
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  cell death  epidermis development  integral component of membrane  bleb assembly  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  cell death  epidermis development  integral component of membrane  bleb assembly  
NDEx NetworkEMP1
Atlas of Cancer Signalling NetworkEMP1
Wikipedia pathwaysEMP1
Orthology - Evolution
OrthoDB2012
GeneTree (enSembl)ENSG00000134531
Phylogenetic Trees/Animal Genes : TreeFamEMP1
Homologs : HomoloGeneEMP1
Homology/Alignments : Family Browser (UCSC)EMP1
Gene fusions - Rearrangements
Fusion : MitelmanEMP1/ETV6 [12p13.1/12p13.2]  
Fusion : QuiverEMP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEMP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EMP1
dbVarEMP1
ClinVarEMP1
MonarchEMP1
1000_GenomesEMP1 
Exome Variant ServerEMP1
GNOMAD BrowserENSG00000134531
Varsome BrowserEMP1
ACMGEMP1 variants
VarityP54849
Genomic Variants (DGV)EMP1 [DGVbeta]
DECIPHEREMP1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DEMP1
Mutations and Diseases : HGMDEMP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEMP1
DgiDB (Drug Gene Interaction Database)EMP1
DoCM (Curated mutations)EMP1
CIViC (Clinical Interpretations of Variants in Cancer)EMP1
Cancer3DEMP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602333   
Orphanet
DisGeNETEMP1
MedgenEMP1
Genetic Testing Registry EMP1
NextProtP54849 [Medical]
GENETestsEMP1
Target ValidationEMP1
Huge Navigator EMP1 [HugePedia]
ClinGenEMP1
Clinical trials, drugs, therapy
MyCancerGenomeEMP1
Protein Interactions : CTDEMP1
Pharm GKB GenePA27770
PharosP54849
Clinical trialEMP1
Miscellaneous
canSAR (ICR)EMP1
HarmonizomeEMP1
DataMed IndexEMP1
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEMP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:08:09 CEST 2021

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