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Q8N131 (PORIM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Porimin
Alternative name(s):
Keratinocytes-associated transmembrane protein 3
Short name=KCT-3
Pro-oncosis receptor inducing membrane injury
Transmembrane protein 123
Gene names
Name:TMEM123
Synonyms:KCT3
ORF Names:PSEC0111, UNQ641/PRO1271
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length208 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Membrane; Single-pass type I membrane protein Potential.

Tissue specificity

Ubiquitous. Not expressed in ovary. Expressed in keratinocytes. Ref.1 Ref.2

Sequence similarities

Belongs to the CD164 family.

Ontologies

Keywords
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   Molecular functionReceptor
   PTMGlycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processoncosis

Inferred from direct assay Ref.1PubMed 9600958. Source: UniProtKB

   Cellular_componentexternal side of plasma membrane

Inferred from direct assay PubMed 9600958. Source: UniProtKB

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

   Molecular_functionreceptor activity

Non-traceable author statement PubMed 9600958. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N131-1)

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.
Isoform 2 (identifier: Q8N131-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Ref.6
Chain27 – 208182Porimin
PRO_0000045058

Regions

Topological domain27 – 166140Extracellular Potential
Transmembrane167 – 18721Helical; Potential
Topological domain188 – 20821Cytoplasmic Potential
Compositional bias52 – 153102Thr-rich

Amino acid modifications

Glycosylation461N-linked (GlcNAc...) Potential
Glycosylation501N-linked (GlcNAc...) Potential
Glycosylation641N-linked (GlcNAc...) Potential
Glycosylation681N-linked (GlcNAc...) Potential
Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation961N-linked (GlcNAc...) Potential
Glycosylation1061N-linked (GlcNAc...) Potential
Glycosylation1241N-linked (GlcNAc...) Potential
Glycosylation1381N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence34 – 5219Missing in isoform 2.
VSP_016605
Natural variant711V → M.
Corresponds to variant rs2155587 [ dbSNP | Ensembl ].
VAR_053023
Natural variant861V → F.
Corresponds to variant rs11547915 [ dbSNP | Ensembl ].
VAR_053024
Natural variant1581A → T.
Corresponds to variant rs12288849 [ dbSNP | Ensembl ].
VAR_053025

Experimental info

Sequence conflict191V → A in AAO13164. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 5120EE933411819E

FASTA20821,531
        10         20         30         40         50         60 
MGLGARGAWA ALLLGTLQVL ALLGAAHESA AMAASANIEN SGLPHNSSAN STETLQHVPS 

        70         80         90        100        110        120 
DHTNETSNST VKPPTSVASD SSNTTVTTMK PTAASNTTTP GMVSTNMTST TLKSTPKTTS 

       130        140        150        160        170        180 
VSQNTSQIST STMTVTHNSS VTSAASSVTI TTTMHSEAKK GSKFDTGSFV GGIVLTLGVL 

       190        200 
SILYIGCKMY YSRRGIRYRT IDEHDAII 

« Hide

Isoform 2 [UniParc].

Checksum: 4730AE48A8203A3E
Show »

FASTA18919,678

References

« Hide 'large scale' references
[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]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_443164.2. NM_052932.2.
UniGeneHs.503709.

3D structure databases

ProteinModelPortalQ8N131.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125396. 2 interactions.
IntActQ8N131. 2 interactions.
MINTMINT-5006452.

PTM databases

PhosphoSiteQ8N131.

Polymorphism databases

DMDM74728484.

Proteomic databases

PaxDbQ8N131.
PRIDEQ8N131.

Protocols and materials databases

DNASU114908.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361236; ENSP00000355285; ENSG00000152558. [Q8N131-2]
ENST00000398136; ENSP00000381204; ENSG00000152558. [Q8N131-1]
GeneID114908.
KEGGhsa:114908.
UCSCuc001pha.3. human. [Q8N131-1]
uc009yxc.3. human. [Q8N131-2]

Organism-specific databases

CTD114908.
GeneCardsGC11M102267.
HGNCHGNC:30138. TMEM123.
HPACAB026001.
MIM606356. gene.
neXtProtNX_Q8N131.
PharmGKBPA143485643.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG120286.
HOGENOMHOG000115612.
HOVERGENHBG059722.
InParanoidQ8N131.
OMATTTMHSE.
OrthoDBEOG7SBNRV.
PhylomeDBQ8N131.
TreeFamTF350123.

Gene expression databases

ArrayExpressQ8N131.
BgeeQ8N131.
CleanExHS_TMEM123.
GenevestigatorQ8N131.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSTMEM123. human.
GeneWikiTMEM123.
GenomeRNAi114908.
NextBio79436.
PROQ8N131.
SOURCESearch...

Entry information

Entry namePORIM_HUMAN
AccessionPrimary (citable) accession number: Q8N131
Secondary accession number(s): Q8IWS2, Q96QV2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2002
Last modified: March 19, 2014
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM