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Q8N131

- PORIM_HUMAN

UniProt

Q8N131 - PORIM_HUMAN

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Protein

Porimin

Gene

TMEM123

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. receptor activity Source: UniProtKB

GO - Biological processi

  1. 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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:30138. TMEM123.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485643.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Add
BLAST
Chaini27 – 208182PoriminPRO_0000045058Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi46 – 461N-linked (GlcNAc...)Sequence Analysis
Glycosylationi50 – 501N-linked (GlcNAc...)Sequence Analysis
Glycosylationi64 – 641N-linked (GlcNAc...)Sequence Analysis
Glycosylationi68 – 681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi83 – 831N-linked (GlcNAc...)Sequence Analysis
Glycosylationi96 – 961N-linked (GlcNAc...)Sequence Analysis
Glycosylationi106 – 1061N-linked (GlcNAc...)Sequence Analysis
Glycosylationi124 – 1241N-linked (GlcNAc...)Sequence Analysis
Glycosylationi138 – 1381N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N131.
PRIDEiQ8N131.

PTM databases

PhosphoSiteiQ8N131.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ8N131.
CleanExiHS_TMEM123.
ExpressionAtlasiQ8N131. baseline and differential.
GenevestigatoriQ8N131.

Organism-specific databases

HPAiCAB026001.

Interactioni

Protein-protein interaction databases

BioGridi125396. 3 interactions.
IntActiQ8N131. 2 interactions.
MINTiMINT-5006452.

Structurei

3D structure databases

ProteinModelPortaliQ8N131.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 166140ExtracellularSequence AnalysisAdd
BLAST
Topological domaini188 – 20821CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei167 – 18721HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi52 – 153102Thr-richAdd
BLAST

Sequence similaritiesi

Belongs to the CD164 family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG120286.
GeneTreeiENSGT00450000040378.
HOGENOMiHOG000115612.
HOVERGENiHBG059722.
InParanoidiQ8N131.
OMAiTTTMHSE.
OrthoDBiEOG7SBNRV.
PhylomeDBiQ8N131.
TreeFamiTF350123.

Family and domain databases

InterProiIPR007947. CD164_MGC24.
[Graphical view]
PANTHERiPTHR11337. PTHR11337. 1 hit.

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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191V → A in AAO13164. (PubMed:12752121)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti71 – 711V → M.
Corresponds to variant rs2155587 [ dbSNP | Ensembl ].
VAR_053023
Natural varianti86 – 861V → F.
Corresponds to variant rs11547915 [ dbSNP | Ensembl ].
VAR_053024
Natural varianti158 – 1581A → T.
Corresponds to variant rs12288849 [ dbSNP | Ensembl ].
VAR_053025

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei34 – 5219Missing in isoform 2. 1 PublicationVSP_016605Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [Q8N131-1]
uc009yxc.3. human. [Q8N131-2]

Polymorphism databases

DMDMi74728484.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS41702.1. [Q8N131-1 ]
RefSeqi NP_443164.2. NM_052932.2. [Q8N131-1 ]
UniGenei Hs.503709.

3D structure databases

ProteinModelPortali Q8N131.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 125396. 3 interactions.
IntActi Q8N131. 2 interactions.
MINTi MINT-5006452.

PTM databases

PhosphoSitei Q8N131.

Polymorphism databases

DMDMi 74728484.

Proteomic databases

PaxDbi Q8N131.
PRIDEi Q8N131.

Protocols and materials databases

DNASUi 114908.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361236 ; ENSP00000355285 ; ENSG00000152558 . [Q8N131-2 ]
ENST00000398136 ; ENSP00000381204 ; ENSG00000152558 . [Q8N131-1 ]
GeneIDi 114908.
KEGGi hsa:114908.
UCSCi uc001pha.3. human. [Q8N131-1 ]
uc009yxc.3. human. [Q8N131-2 ]

Organism-specific databases

CTDi 114908.
GeneCardsi GC11M102267.
HGNCi HGNC:30138. TMEM123.
HPAi CAB026001.
MIMi 606356. gene.
neXtProti NX_Q8N131.
PharmGKBi PA143485643.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG120286.
GeneTreei ENSGT00450000040378.
HOGENOMi HOG000115612.
HOVERGENi HBG059722.
InParanoidi Q8N131.
OMAi TTTMHSE.
OrthoDBi EOG7SBNRV.
PhylomeDBi Q8N131.
TreeFami TF350123.

Miscellaneous databases

ChiTaRSi TMEM123. human.
GeneWikii TMEM123.
GenomeRNAii 114908.
NextBioi 79436.
PROi Q8N131.
SOURCEi Search...

Gene expression databases

Bgeei Q8N131.
CleanExi HS_TMEM123.
ExpressionAtlasi Q8N131. baseline and differential.
Genevestigatori Q8N131.

Family and domain databases

InterProi IPR007947. CD164_MGC24.
[Graphical view ]
PANTHERi PTHR11337. PTHR11337. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of Porimin, a novel cell surface receptor mediating oncotic cell death."
    Ma F., Zhang C., Prasad K.V.S., Freeman G.J., Schlossman S.F.
    Proc. Natl. Acad. Sci. U.S.A. 98:9778-9783(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION IN ONCOSIS, TISSUE SPECIFICITY.
  2. "Identification of novel genes for secreted and membrane-anchored proteins in human keratinocytes."
    Bonkobara M., Das A., Takao J., Cruz P.D. Jr., Ariizumi K.
    Br. J. Dermatol. 148:654-664(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Teratocarcinoma.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lymph.
  6. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
    Zhang Z., Henzel W.J.
    Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 27-60 (ISOFORM 2).

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: October 29, 2014
This is version 92 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

External Data

Dasty 3