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

Gene ID: 2012, updated on 8-Jul-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 bleb assembly and cell death. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in esophagus (RPKM 1426.7), gall bladder (RPKM 194.7) and 2 other tissues See more
Orthologs
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Genomic context

See EMP1 in Genome Data Viewer
Location:
12p13.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (13196726..13219941)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (13071022..13094235)
105.20220307 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
  • 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?

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)

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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_2023_10

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)