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TMEM123 transmembrane protein 123 [ Homo sapiens (human) ]

Gene ID: 114908, updated on 18-Nov-2020

Summary

Official Symbol
TMEM123provided by HGNC
Official Full Name
transmembrane protein 123provided by HGNC
Primary source
HGNC:HGNC:30138
See related
Ensembl:ENSG00000152558 MIM:606356
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
KCT3; PORMIN; PORIMIN
Summary
This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 170.2), endometrium (RPKM 103.2) and 25 other tissues See more
Orthologs

Genomic context

See TMEM123 in Genome Data Viewer
Location:
11q22.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102396332..102452765, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102267056..102323775, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene baculoviral IAP repeat containing 3 Neighboring gene baculoviral IAP repeat containing 2 Neighboring gene uncharacterized LOC101928424 Neighboring gene uncharacterized LOC102723838

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

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
oncosis IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
porimin
Names
KCT-3
keratinocytes associated transmembrane protein 3
pro-oncosis receptor inducing membrane injury
serine/threonine-rich receptor

NCBI Reference Sequences (RefSeq)

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_052932.3NP_443164.2  porimin precursor

    See identical proteins and their annotated locations for NP_443164.2

    Status: REVIEWED

    Source sequence(s)
    AL137643, AP000942, BC032296, DB146474
    Consensus CDS
    CCDS41702.1
    UniProtKB/Swiss-Prot
    Q8N131
    Related
    ENSP00000381204.2, ENST00000398136.7
    Conserved Domains (1) summary
    pfam05283
    Location:67179
    MGC-24; Multi-glycosylated core protein 24 (MGC-24), sialomucin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    102396332..102452765 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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