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TMEM123 transmembrane protein 123 [ Homo sapiens (human) ]

Gene ID: 114908, updated on 8-May-2016
Official Symbol
TMEM123provided by HGNC
Official Full Name
transmembrane protein 123provided by HGNC
Primary source
HGNC:HGNC:30138
See related
Ensembl:ENSG00000152558 MIM:606356; Vega:OTTHUMG00000167326
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]
Orthologs
Location:
11q22.1
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (102396325..102453044, 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 LOC105369461 Neighboring gene uncharacterized LOC102723838

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
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 
Preferred Names
porimin
Names
KCT-3
keratinocytes associated transmembrane protein 3
keratinocytes-associated transmembrane protein 3
pro oncosis receptor inducing membrane injury
pro-oncosis receptor inducing membrane injury
serine/threonine-rich receptor

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_052932.2NP_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, OTTHUMP00000235712, ENST00000398136, OTTHUMT00000394178
    Conserved Domains (1) summary
    pfam05283
    Location:3184
    MGC-24; Multi-glycosylated core protein 24 (MGC-24)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    102396325..102453044 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    102150071..102206782 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)