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    EMP1 epithelial membrane protein 1 [ Homo sapiens (human) ]

    Gene ID: 2012, updated on 2-Nov-2024

    Summary

    Official Symbol
    EMP1provided by HGNC
    Official Full Name
    epithelial membrane protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3333
    See related
    Ensembl:ENSG00000134531 MIM:602333; AllianceGenome:HGNC:3333
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TMP; CL-20; EMP-1
    Summary
    Involved in apoptotic process and bleb assembly. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in esophagus (RPKM 1426.7), gall bladder (RPKM 194.7) and 2 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EMP1 in Genome Data Viewer
    Location:
    12p13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (13196726..13219941)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (13071022..13094235)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (13349660..13372875)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4273 Neighboring gene Sharpr-MPRA regulatory region 6445 Neighboring gene germ cell associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:13277735-13278236 Neighboring gene uncharacterized LOC124902882 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:13318180-13319379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6032 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6033 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13336996-13337496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13337497-13337997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:13351700-13352200 Neighboring gene Sharpr-MPRA regulatory region 3500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13409703-13410569 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:13417435-13418010 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:13418011-13418585 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:13492223-13493422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:13521335-13521834 Neighboring gene NANOG hESC enhancer GRCh37_chr12:13521894-13522420 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:13528282-13529481 Neighboring gene long intergenic non-protein coding RNA 1559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13591195-13591716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:13591717-13592238 Neighboring gene RNA, 5S ribosomal pseudogene 353

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    involved_in epidermis development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    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

    Preferred Names
    epithelial membrane protein 1
    Names
    tumor-associated membrane protein

    NCBI Reference Sequences (RefSeq)

    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_001423.3NP_001414.1  epithelial membrane protein 1

      See identical proteins and their annotated locations for NP_001414.1

      Status: VALIDATED

      Source sequence(s)
      AC022276, BC047300, U77085
      Consensus CDS
      CCDS8660.1
      UniProtKB/Swiss-Prot
      B2R5N1, B4DRR1, O00681, P54849, Q13481, Q13834
      Related
      ENSP00000256951.5, ENST00000256951.10
      Conserved Domains (1) summary
      pfam00822
      Location:1151
      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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      13196726..13219941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      13071022..13094235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)