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    EMP3 epithelial membrane protein 3 (MAM blood group) [ Homo sapiens (human) ]

    Gene ID: 2014, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EMP3provided by HGNC
    Official Full Name
    epithelial membrane protein 3 (MAM blood group)provided by HGNC
    Primary source
    HGNC:HGNC:3335
    See related
    Ensembl:ENSG00000142227 MIM:602335; AllianceGenome:HGNC:3335
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    YMP
    Summary
    The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
    Expression
    Ubiquitous expression in bone marrow (RPKM 63.7), appendix (RPKM 40.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EMP3 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48325552..48330553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51319698..51324699)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48828809..48833810)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF114 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48774579-48775085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48775086-48775591 Neighboring gene zinc finger protein 114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14878 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48794631-48795279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48798559-48799060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48799061-48799560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48800397-48800914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48806581-48807105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48807106-48807629 Neighboring gene outer dynein arm docking complex subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48811608-48812298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48812299-48812988 Neighboring gene Sharpr-MPRA regulatory region 8297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10875 Neighboring gene uncharacterized LOC124904735 Neighboring gene Sharpr-MPRA regulatory region 73 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14881 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:48827824-48828055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14885 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48836515-48837250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48842328-48843265 Neighboring gene transmembrane protein 143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845414-48845914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48845915-48846415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876382-48876882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48876883-48877383 Neighboring gene synaptogyrin 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma. Martija AA, et al. Acta Neuropathol Commun, 2023 Nov 7. PMID 37936247, Free PMC Article
    2. EMP3 overexpression is associated with oligodendroglial tumors retaining chromosome arms 1p and 19q. Li KK, et al. Int J Cancer, 2007 Feb 15. PMID 17187361
    3. DNA hypermethylation and aberrant expression of the EMP3 gene at 19q13.3 in Human Gliomas. Kunitz A, et al. Brain Pathol, 2007 Oct. PMID 17610521, Free PMC Article
    4. EMP3 as a tumor suppressor gene for esophageal squamous cell carcinoma. Fumoto S, et al. Cancer Lett, 2009 Feb 8. PMID 18823699
    5. EMP3 overexpression in primary breast carcinomas is not associated with epigenetic aberrations. Zhou W, et al. J Korean Med Sci, 2009 Feb. PMID 19270820, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EMP3 as a prognostic biomarker correlates with EMT in GBM.
      Title: EMP3 as a prognostic biomarker correlates with EMT in GBM.
    2. EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.
      Title: EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.
    3. Yes, MAM: how the cancer-related EMP3 protein became a regulator of erythropoiesis and the key protein underlying a new blood group system.
      Title: Yes, MAM: how the cancer-related EMP3 protein became a regulator of erythropoiesis and the key protein underlying a new blood group system.
    4. Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer.
      Title: Expression of epithelial membrane protein (EMP) 1, EMP 2, and EMP 3 in thyroid cancer.
    5. EMP3 negatively modulates breast cancer cell DNA replication, DNA damage repair, and stem-like properties.
      Title: EMP3 negatively modulates breast cancer cell DNA replication, DNA damage repair, and stem-like properties.
    6. Epithelial membrane protein 3 regulates lung cancer stem cells via the TGFbeta signaling pathway.
      Title: Epithelial membrane protein 3 regulates lung cancer stem cells via the TGF‑β signaling pathway.
    7. Establishment of a nomogram with EMP3 for predicting clinical outcomes in patients with glioma: A bi-center study.
      Title: Establishment of a nomogram with EMP3 for predicting clinical outcomes in patients with glioma: A bi-center study.
    8. Identification of candidate biomarker EMP3 and its prognostic potential in clear cell renal cell carcinoma.
      Title: Identification of candidate biomarker EMP3 and its prognostic potential in clear cell renal cell carcinoma.
    9. EMP3 mediates glioblastoma-associated macrophage infiltration to drive T cell exclusion.
      Title: EMP3 mediates glioblastoma-associated macrophage infiltration to drive T cell exclusion.
    10. The Multifunctional Role of EMP3 in the Regulation of Membrane Receptors Associated with IDH-Wild-Type Glioblastoma.
      Title: The Multifunctional Role of EMP3 in the Regulation of Membrane Receptors Associated with IDH-Wild-Type Glioblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in bleb assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    epithelial membrane protein 3
    Names
    EMP-3
    HNMP-1
    hematopoietic neural membrane protein 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001313905.1 → NP_001300834.1  epithelial membrane protein 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC008392
      Consensus CDS
      CCDS12715.1
      UniProtKB/Swiss-Prot
      P54852, Q6FH01
      UniProtKB/TrEMBL
      Q6IBD3
      Related
      ENSP00000520862.1, ENST00000850572.1
      Conserved Domains (1) summary
      pfam00822
      Location:20 → 156
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    2. NM_001425.3 → NP_001416.1  epithelial membrane protein 3

      See identical proteins and their annotated locations for NP_001416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL541088, BC009718
      Consensus CDS
      CCDS12715.1
      UniProtKB/Swiss-Prot
      P54852, Q6FH01
      UniProtKB/TrEMBL
      Q6IBD3
      Related
      ENSP00000270221.5, ENST00000270221.11
      Conserved Domains (1) summary
      pfam00822
      Location:20 → 156
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48325552..48330553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526605.4 → XP_011524907.1  epithelial membrane protein 3 isoform X1

      See identical proteins and their annotated locations for XP_011524907.1

      UniProtKB/Swiss-Prot
      P54852, Q6FH01
      UniProtKB/TrEMBL
      Q6IBD3
      Related
      ENSP00000469194.1, ENST00000597279.5
      Conserved Domains (1) summary
      pfam00822
      Location:20 → 156
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51319698..51324699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320174.1 → XP_054176149.1  epithelial membrane protein 3 isoform X1

      UniProtKB/Swiss-Prot
      P54852, Q6FH01
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P54852.1 GenPept UniProtKB/Swiss-Prot:P54852

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