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Q8N131

- PORIM_HUMAN

UniProt

Q8N131 - PORIM_HUMAN

Protein

Porimin

Gene

TMEM123

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ8N131.
    BgeeiQ8N131.
    CleanExiHS_TMEM123.
    GenevestigatoriQ8N131.

    Organism-specific databases

    HPAiCAB026001.

    Interactioni

    Protein-protein interaction databases

    BioGridi125396. 2 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.
    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

    MGLGARGAWA ALLLGTLQVL ALLGAAHESA AMAASANIEN SGLPHNSSAN    50
    STETLQHVPS DHTNETSNST VKPPTSVASD SSNTTVTTMK PTAASNTTTP 100
    GMVSTNMTST TLKSTPKTTS VSQNTSQIST STMTVTHNSS VTSAASSVTI 150
    TTTMHSEAKK GSKFDTGSFV GGIVLTLGVL SILYIGCKMY YSRRGIRYRT 200
    IDEHDAII 208
    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. 2 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.
    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

    ArrayExpressi Q8N131.
    Bgeei Q8N131.
    CleanExi HS_TMEM123.
    Genevestigatori Q8N131.

    Family and domain databases

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

    Publicationsi

    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 1, 2014
    This is version 91 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