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Aliases for EMP1 Gene

Aliases for EMP1 Gene

  • Epithelial Membrane Protein 1 2 3 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

GeneHancer (GH) Regulatory Elements for EMP1 Gene

Promoters and enhancers for EMP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J013193 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 655.6 +6.4 6424 19.5 PKNOX1 SIN3A FEZF1 YY1 ZNF143 FOS RXRA REST MAFF STAT3 EMP1 HTR7P1 MIR614 GSG1 DDX47 GPRC5D-AS1 ENSG00000255621 HEBP1 ENSG00000221611 LOH12CR2
GH12J013171 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.7 -22.8 -22788 5.4 PKNOX1 KLF17 BMI1 BATF IRF4 YY1 FOS ETV6 IKZF2 RUNX3 EMP1 GSG1 GC12M013185 GC12P013156
GH12J012887 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.5 -305.5 -305480 7.3 PKNOX1 CLOCK FOXA2 NEUROD1 SIN3A FEZF1 ZNF2 YY1 FOS KLF13 GPRC5A DDX47 EMP1 LRP6 GC12P012923
GH12J013133 Enhancer 1.1 Ensembl ENCODE dbSUPER 23.8 -61.1 -61139 3.3 NCOA3 CTCF PKNOX1 ESRRA NEUROD1 ZIC2 RAD21 ZFHX2 CTBP1 GATA3 GC12P013134 EMP1 GSG1 MIR614 HTR7P1 HEBP1 ENSG00000255621 GC12P013138 FAM234B
GH12J013163 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.8 -30.9 -30855 4.8 GTF2F1 USF1 JUN MAX BRCA1 YY1 TCF12 ZNF335 POLR2A CBFA2T2 EMP1 ENSG00000255621 GSG1 HEBP1 HTR7P1 FAM234B GC12P013156 GC12M013185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMP1 gene promoter:
  • AP-1
  • SRF (504 AA)
  • SRF
  • HNF-4alpha2
  • HNF-4alpha1
  • COUP-TF1

Genomic Locations for EMP1 Gene

Genomic Locations for EMP1 Gene
chr12:13,196,668-13,219,939
(GRCh38/hg38)
Size:
23,272 bases
Orientation:
Plus strand
chr12:13,349,602-13,369,708
(GRCh37/hg19)
Size:
20,107 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=246 and isoforms=243
  • Modification sites at PhosphoSitePlus

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
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

Clone Products

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
nucleus 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 IEA,TAS 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

mRNA/cDNA for EMP1 Gene

Unigene Clusters for EMP1 Gene

Epithelial membrane protein 1:
Representative Sequences:

Clone Products

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

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 34 33
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMP1 34 33
  • 85.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMP1 34 33
  • 82.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Emp1 16 34 33
  • 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 34 33
  • 67.73 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for EMP1: view image

Paralogs for EMP1 Gene

Paralogs for EMP1 Gene

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

  • EMP1_HUMAN
  • B4DRR1_HUMAN
  • F5GYV0_HUMAN
  • F5H2P5_HUMAN
  • F5H397_HUMAN
  • J3KQX4_HUMAN
  • Q8WWD6_HUMAN
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 Variation AA Info Type
rs1000016134 -- 13,212,404(+) A/G intron_variant
rs1000022865 -- 13,198,266(+) TTTTTTT/TT/TTT intron_variant
rs1000038649 -- 13,212,795(+) A/G intron_variant
rs1000154151 -- 13,212,992(+) A/G intron_variant
rs1000291637 -- 13,201,304(+) A/G 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)

Additional Variant Information for EMP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for EMP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  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 58
  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 58

Products for EMP1 Gene

Sources for EMP1 Gene

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