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Protein

Porimin

Gene

TMEM123

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.1 Publication

GO - Molecular functioni

  • receptor activity Source: UniProtKB

GO - Biological processi

  • oncosis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
Porimin
Alternative name(s):
Keratinocytes-associated transmembrane protein 3
Short name:
KCT-3
Pro-oncosis receptor inducing membrane injury
Transmembrane protein 123
Gene namesi
Name:TMEM123
Synonyms:KCT3
ORF Names:PSEC0111, UNQ641/PRO1271
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30138. TMEM123.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 166ExtracellularSequence analysisAdd BLAST140
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 208CytoplasmicSequence analysisAdd BLAST21

GO - Cellular componenti

  • external side of plasma membrane Source: UniProtKB
  • integral component of membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000152558.
PharmGKBiPA143485643.

Polymorphism and mutation databases

BioMutaiTMEM123.
DMDMi74728484.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Add BLAST26
ChainiPRO_000004505827 – 208PoriminAdd BLAST182

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi46N-linked (GlcNAc...)Sequence analysis1
Glycosylationi50N-linked (GlcNAc...)Sequence analysis1
Glycosylationi64N-linked (GlcNAc...)Sequence analysis1
Glycosylationi68N-linked (GlcNAc...)Sequence analysis1
Glycosylationi83N-linked (GlcNAc...)Sequence analysis1
Glycosylationi96N-linked (GlcNAc...)Sequence analysis1
Glycosylationi106N-linked (GlcNAc...)Sequence analysis1
Glycosylationi124N-linked (GlcNAc...)Sequence analysis1
Glycosylationi138N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8N131.
PaxDbiQ8N131.
PeptideAtlasiQ8N131.
PRIDEiQ8N131.

PTM databases

iPTMnetiQ8N131.
PhosphoSitePlusiQ8N131.

Expressioni

Tissue specificityi

Ubiquitous. Not expressed in ovary. Expressed in keratinocytes.2 Publications

Gene expression databases

BgeeiENSG00000152558.
CleanExiHS_TMEM123.
ExpressionAtlasiQ8N131. baseline and differential.
GenevisibleiQ8N131. HS.

Organism-specific databases

HPAiCAB026001.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA11P43364-23EBI-749248,EBI-10178634

Protein-protein interaction databases

BioGridi125396. 3 interactors.
IntActiQ8N131. 3 interactors.
MINTiMINT-5006452.

Structurei

3D structure databases

ProteinModelPortaliQ8N131.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi52 – 153Thr-richAdd BLAST102

Sequence similaritiesi

Belongs to the CD164 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J1SC. Eukaryota.
ENOG410ZE8W. LUCA.
GeneTreeiENSGT00450000040378.
HOGENOMiHOG000115612.
HOVERGENiHBG059722.
InParanoidiQ8N131.
OMAiTTTMHSE.
OrthoDBiEOG091G141K.
PhylomeDBiQ8N131.
TreeFamiTF350123.

Family and domain databases

InterProiIPR007947. CD164_MGC24.
[Graphical view]
PANTHERiPTHR11337. PTHR11337. 1 hit.
PfamiPF05283. MGC-24. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N131-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGLGARGAWA ALLLGTLQVL ALLGAAHESA AMAASANIEN SGLPHNSSAN
60 70 80 90 100
STETLQHVPS DHTNETSNST VKPPTSVASD SSNTTVTTMK PTAASNTTTP
110 120 130 140 150
GMVSTNMTST TLKSTPKTTS VSQNTSQIST STMTVTHNSS VTSAASSVTI
160 170 180 190 200
TTTMHSEAKK GSKFDTGSFV GGIVLTLGVL SILYIGCKMY YSRRGIRYRT

IDEHDAII
Length:208
Mass (Da):21,531
Last modified:October 1, 2002 - v1
Checksum:i5120EE933411819E
GO
Isoform 2 (identifier: Q8N131-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-52: Missing.

Show »
Length:189
Mass (Da):19,678
Checksum:i4730AE48A8203A3E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti19V → A in AAO13164 (PubMed:12752121).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05302371V → M.Corresponds to variant rs2155587dbSNPEnsembl.1
Natural variantiVAR_05302486V → F.Corresponds to variant rs11547915dbSNPEnsembl.1
Natural variantiVAR_053025158A → T.Corresponds to variant rs12288849dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01660534 – 52Missing in isoform 2. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008283 mRNA. Translation: AAG21694.1.
AY157580 mRNA. Translation: AAO13164.1.
AY358696 mRNA. Translation: AAQ89059.1.
AK075420 mRNA. Translation: BAC11610.1.
BC032296 mRNA. Translation: AAH32296.1.
CCDSiCCDS41702.1. [Q8N131-1]
RefSeqiNP_443164.2. NM_052932.2. [Q8N131-1]
UniGeneiHs.503709.

Genome annotation databases

EnsembliENST00000361236; ENSP00000355285; ENSG00000152558. [Q8N131-2]
ENST00000398136; ENSP00000381204; ENSG00000152558. [Q8N131-1]
GeneIDi114908.
KEGGihsa:114908.
UCSCiuc001pha.4. human. [Q8N131-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY008283 mRNA. Translation: AAG21694.1.
AY157580 mRNA. Translation: AAO13164.1.
AY358696 mRNA. Translation: AAQ89059.1.
AK075420 mRNA. Translation: BAC11610.1.
BC032296 mRNA. Translation: AAH32296.1.
CCDSiCCDS41702.1. [Q8N131-1]
RefSeqiNP_443164.2. NM_052932.2. [Q8N131-1]
UniGeneiHs.503709.

3D structure databases

ProteinModelPortaliQ8N131.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125396. 3 interactors.
IntActiQ8N131. 3 interactors.
MINTiMINT-5006452.

PTM databases

iPTMnetiQ8N131.
PhosphoSitePlusiQ8N131.

Polymorphism and mutation databases

BioMutaiTMEM123.
DMDMi74728484.

Proteomic databases

EPDiQ8N131.
PaxDbiQ8N131.
PeptideAtlasiQ8N131.
PRIDEiQ8N131.

Protocols and materials databases

DNASUi114908.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361236; ENSP00000355285; ENSG00000152558. [Q8N131-2]
ENST00000398136; ENSP00000381204; ENSG00000152558. [Q8N131-1]
GeneIDi114908.
KEGGihsa:114908.
UCSCiuc001pha.4. human. [Q8N131-1]

Organism-specific databases

CTDi114908.
GeneCardsiTMEM123.
HGNCiHGNC:30138. TMEM123.
HPAiCAB026001.
MIMi606356. gene.
neXtProtiNX_Q8N131.
OpenTargetsiENSG00000152558.
PharmGKBiPA143485643.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J1SC. Eukaryota.
ENOG410ZE8W. LUCA.
GeneTreeiENSGT00450000040378.
HOGENOMiHOG000115612.
HOVERGENiHBG059722.
InParanoidiQ8N131.
OMAiTTTMHSE.
OrthoDBiEOG091G141K.
PhylomeDBiQ8N131.
TreeFamiTF350123.

Miscellaneous databases

ChiTaRSiTMEM123. human.
GeneWikiiTMEM123.
GenomeRNAii114908.
PROiQ8N131.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152558.
CleanExiHS_TMEM123.
ExpressionAtlasiQ8N131. baseline and differential.
GenevisibleiQ8N131. HS.

Family and domain databases

InterProiIPR007947. CD164_MGC24.
[Graphical view]
PANTHERiPTHR11337. PTHR11337. 1 hit.
PfamiPF05283. MGC-24. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPORIM_HUMAN
AccessioniPrimary (citable) accession number: Q8N131
Secondary accession number(s): Q8IWS2, Q96QV2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2002
Last modified: November 30, 2016
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.