Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EMP1 Gene

Aliases for EMP1 Gene

  • Epithelial Membrane Protein 1 2 3 5
  • Tumor-Associated Membrane Protein 3 4
  • CL-20 3 4
  • EMP-1 3 4
  • TMP 3 4
  • Protein B4B 4
  • B4B 4

External Ids for EMP1 Gene

Previous GeneCards Identifiers for EMP1 Gene

  • GC12P013091
  • GC12P013494
  • GC12P013249
  • GC12P013240
  • GC12P013210
  • GC12P013119
  • GC12P013349

Summaries for EMP1 Gene

GeneCards Summary for EMP1 Gene

EMP1 (Epithelial Membrane Protein 1) is a Protein Coding gene. Diseases associated with EMP1 include Endobronchial Lipoma. An important paralog of this gene is EMP2.

Gene Wiki entry for EMP1 Gene

Additional gene information for EMP1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMP1 Gene

Genomics for EMP1 Gene

Regulatory Elements for EMP1 Gene

Enhancers for EMP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H013171 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18.7 -22.8 -22788 5 PKNOX1 KLF17 BMI1 BATF YY1 FOS ETV6 RUNX3 IKZF2 CBFB EMP1 GSG1 GC12M013185 GC12P013156
GH12H013133 1.3 Ensembl ENCODE dbSUPER 23.8 -61.1 -61139 3 CTCF PKNOX1 ESRRA RAD21 ZIC2 ZFHX2 CTBP1 GATA3 ZNF366 HSF1 EMP1 GSG1 MIR614 HEBP1 HTR7P1 ENSG00000255621 GC12P013138 GC12P013134
GH12H013163 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17.8 -30.9 -30855 4 GTF2F1 JUN MAX BRCA1 YY1 TCF12 POLR2A FOSL2 FOS ZBTB20 EMP1 ENSG00000255621 GSG1 HEBP1 HTR7P1 FAM234B GC12P013156 GC12M013185
GH12H012887 1.3 ENCODE dbSUPER 12.5 -305.5 -305480 7 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 FOS DEK SP3 REST DDX47 EMP1 GPRC5A LRP6 GC12P012921
GH12H013124 0.9 FANTOM5 ENCODE 17.8 -71.2 -71245 1 JUN CEBPB RAD21 EP300 JUND BCL6 FOS TCF7L2 EMP1 MIR614 HEBP1 HTR7P1 ENSG00000255621 GC12P013123 GC12P013128 PIR54575
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EMP1 on UCSC Golden Path with GeneCards custom track

Promoters for EMP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000049059 1232 2601 TBP PKNOX1 KLF17 SIN3A FEZF1 RAD21 BATF RFX5 ZNF366 RCOR1

Genomic Location for EMP1 Gene

Chromosome:
12
Start:
13,196,668 bp from pter
End:
13,219,939 bp from pter
Size:
23,272 bases
Orientation:
Plus strand

Genomic View for EMP1 Gene

Genes around EMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMP1 Gene

Proteins for EMP1 Gene

  • Protein details for EMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54849-EMP1_HUMAN
    Recommended name:
    Epithelial membrane protein 1
    Protein Accession:
    P54849
    Secondary Accessions:
    • B2R5N1
    • B4DRR1
    • O00681
    • Q13481
    • Q13834

    Protein attributes for EMP1 Gene

    Size:
    157 amino acids
    Molecular mass:
    17563 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMP1 Gene

Post-translational modifications for EMP1 Gene

  • Glycosylation at isoforms=243 and posLast=4646

Other Protein References for EMP1 Gene

No data available for DME Specific Peptides for EMP1 Gene

Domains & Families for EMP1 Gene

Gene Families for EMP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

P54849

UniProtKB/Swiss-Prot:

EMP1_HUMAN :
  • Belongs to the PMP-22/EMP/MP20 family.
Family:
  • Belongs to the PMP-22/EMP/MP20 family.
genes like me logo Genes that share domains with EMP1: view

Function for EMP1 Gene

Molecular function for EMP1 Gene

GENATLAS Biochemistry:
epithelial membrane protein 1,rabbit CL-20 homolog,tumor associated membrane protein,expressed in mammary tumor and T cell lymphoma,c-Myc target

Phenotypes From GWAS Catalog for EMP1 Gene

Gene Ontology (GO) - Molecular Function for EMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12107182
genes like me logo Genes that share ontologies with EMP1: view

Phenotypes for EMP1 Gene

MGI mutant phenotypes for EMP1:
inferred from 1 alleles
GenomeRNAi human phenotypes for EMP1:
genes like me logo Genes that share phenotypes with EMP1: view

Animal Models for EMP1 Gene

MGI Knock Outs for EMP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for EMP1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EMP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMP1 Gene

Localization for EMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMP1 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMP1 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA 12107182
GO:0016020 membrane TAS,IEA 8996089
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EMP1: view

Pathways & Interactions for EMP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development TAS 8996089
GO:0008219 cell death IDA 12107182
GO:0008283 cell proliferation TAS 8996089
GO:0008544 epidermis development TAS 7499420
GO:0016049 cell growth IEA --
genes like me logo Genes that share ontologies with EMP1: view

No data available for Pathways by source and SIGNOR curated interactions for EMP1 Gene

Drugs & Compounds for EMP1 Gene

(2) Drugs for EMP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EMP1: view

Transcripts for EMP1 Gene

Unigene Clusters for EMP1 Gene

Epithelial membrane protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EMP1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EMP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - -
SP5: - - - - - - - -
SP6: - - - -
SP7:
SP8:

Relevant External Links for EMP1 Gene

GeneLoc Exon Structure for
EMP1
ECgene alternative splicing isoforms for
EMP1

Expression for EMP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMP1 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.6), Vagina (x5.1), Cervix - Ectocervix (x4.2), and Minor Salivary Gland (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of EMP1 Gene:

EMP1

SOURCE GeneReport for Unigene cluster for EMP1 Gene:

Hs.719042

Evidence on tissue expression from TISSUES for EMP1 Gene

  • Liver(4.4)
  • Blood(4.3)
  • Nervous system(4.3)
  • Skin(4.2)
  • Kidney(3.5)
  • Lung(3.4)
  • Thyroid gland(2.7)
  • Muscle(2.4)
  • Gall bladder(2.3)
  • Heart(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with EMP1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EMP1 Gene

Orthologs for EMP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EMP1 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia EMP1 33 34
  • 85.35 (n)
cow
(Bos Taurus)
Mammalia EMP1 33 34
  • 82.17 (n)
mouse
(Mus musculus)
Mammalia Emp1 33 16 34
  • 79.83 (n)
rat
(Rattus norvegicus)
Mammalia Emp1 33
  • 77.28 (n)
oppossum
(Monodelphis domestica)
Mammalia EMP1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMP1 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves EMP1 33 34
  • 67.73 (n)
lizard
(Anolis carolinensis)
Reptilia EMP1 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emp1 33
  • 62.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5505 33
zebrafish
(Danio rerio)
Actinopterygii emp1 34
  • 31 (a)
OneToOne
Species where no ortholog for EMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EMP1 Gene

ENSEMBL:
Gene Tree for EMP1 (if available)
TreeFam:
Gene Tree for EMP1 (if available)

Paralogs for EMP1 Gene

Paralogs for EMP1 Gene

(3) SIMAP similar genes for EMP1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with EMP1: view

Variants for EMP1 Gene

Sequence variations from dbSNP and Humsavar for EMP1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000016134 -- 13,212,404(+) TCCCT(A/G)TCACA intron-variant
rs1000022865 -- 13,198,266(+) TTTTC(-/TTTT)TTTCT intron-variant
rs1000038649 -- 13,212,795(+) TCCAG(A/G)AGGAT intron-variant
rs1000154151 -- 13,212,992(+) TTATT(A/G)ACCAC intron-variant
rs1000291637 -- 13,201,304(+) TGGGA(A/G)GCTGA intron-variant

Variation tolerance for EMP1 Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EMP1 Gene

Disorders for EMP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
endobronchial lipoma
- elite association - COSMIC cancer census association via MalaCards
Search EMP1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EMP1

Genetic Association Database (GAD)
EMP1
Human Genome Epidemiology (HuGE) Navigator
EMP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMP1
genes like me logo Genes that share disorders with EMP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMP1 Gene

Publications for EMP1 Gene

  1. cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family. (PMID: 9126480) Chen Y … Jetten AM (Genomics 1997) 2 3 4 22 60
  2. Characterization of a tumor-associated gene, a member of a novel family of genes encoding membrane glycoproteins. (PMID: 8996089) Ben-Porath I … Benvenisty N (Gene 1996) 2 3 4 60
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 45 60
  4. Up-regulation of epithelial membrane protein-1 in the temporal neocortex of patients with intractable epilepsy. (PMID: 19288191) Li YQ … Yao L (Neurochemical research 2009) 3 22 60
  5. Epithelial membrane protein-1 is a biomarker of gefitinib resistance. (PMID: 16087880) Jain A … Agus DB (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 22 60

Products for EMP1 Gene

Sources for EMP1 Gene

Content
Loading form....