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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
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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)

Genotypes

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

Gene LinkOut

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