ID   PORIM_HUMAN             Reviewed;         208 AA.
AC   Q8N131; Q8IWS2; Q96QV2;
DT   20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   24-JAN-2024, entry version 149.
DE   RecName: Full=Porimin;
DE   AltName: Full=Keratinocytes-associated transmembrane protein 3;
DE            Short=KCT-3;
DE   AltName: Full=Pro-oncosis receptor inducing membrane injury;
DE   AltName: Full=Transmembrane protein 123;
DE   Flags: Precursor;
GN   Name=TMEM123; Synonyms=KCT3; ORFNames=PSEC0111, UNQ641/PRO1271;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION IN ONCOSIS, AND TISSUE
RP   SPECIFICITY.
RX   PubMed=11481458; DOI=10.1073/pnas.171322898;
RA   Ma F., Zhang C., Prasad K.V.S., Freeman G.J., Schlossman S.F.;
RT   "Molecular cloning of Porimin, a novel cell surface receptor mediating
RT   oncotic cell death.";
RL   Proc. Natl. Acad. Sci. U.S.A. 98:9778-9783(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX   PubMed=12752121; DOI=10.1046/j.1365-2133.2003.05244.x;
RA   Bonkobara M., Das A., Takao J., Cruz P.D. Jr., Ariizumi K.;
RT   "Identification of novel genes for secreted and membrane-anchored proteins
RT   in human keratinocytes.";
RL   Br. J. Dermatol. 148:654-664(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX   PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA   Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA   Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA   Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA   Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA   Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT   identify novel human secreted and transmembrane proteins: a bioinformatics
RT   assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Teratocarcinoma;
RX   PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA   Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA   Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA   Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA   Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA   Isogai T.;
RT   "Signal sequence and keyword trap in silico for selection of full-length
RT   human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT   libraries.";
RL   DNA Res. 12:117-126(2005).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lymph;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   PROTEIN SEQUENCE OF 27-60 (ISOFORM 2).
RX   PubMed=15340161; DOI=10.1110/ps.04682504;
RA   Zhang Z., Henzel W.J.;
RT   "Signal peptide prediction based on analysis of experimentally verified
RT   cleavage sites.";
RL   Protein Sci. 13:2819-2824(2004).
CC   -!- FUNCTION: Implicated in oncotic cell death, characterized by cell
CC       swelling, organelle swelling, vacuolization and increased membrane
CC       permeability. {ECO:0000269|PubMed:11481458}.
CC   -!- INTERACTION:
CC       Q8N131; Q9ULR0: ISY1; NbExp=3; IntAct=EBI-749248, EBI-2557660;
CC       Q8N131; P43364: MAGEA11; NbExp=4; IntAct=EBI-749248, EBI-739552;
CC       Q8N131; P43364-2: MAGEA11; NbExp=3; IntAct=EBI-749248, EBI-10178634;
CC       Q8N131; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-749248, EBI-744081;
CC       Q8N131; Q96L03: SPATA17; NbExp=3; IntAct=EBI-749248, EBI-13322423;
CC       Q8N131; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-749248, EBI-947187;
CC       Q8N131; Q96EF9: ZHX1-C8orf76; NbExp=3; IntAct=EBI-749248, EBI-25830993;
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC       membrane protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8N131-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N131-2; Sequence=VSP_016605;
CC   -!- TISSUE SPECIFICITY: Ubiquitous. Not expressed in ovary. Expressed in
CC       keratinocytes. {ECO:0000269|PubMed:11481458,
CC       ECO:0000269|PubMed:12752121}.
CC   -!- SIMILARITY: Belongs to the CD164 family. {ECO:0000305}.
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DR   EMBL; AY008283; AAG21694.1; -; mRNA.
DR   EMBL; AY157580; AAO13164.1; -; mRNA.
DR   EMBL; AY358696; AAQ89059.1; -; mRNA.
DR   EMBL; AK075420; BAC11610.1; -; mRNA.
DR   EMBL; BC032296; AAH32296.1; -; mRNA.
DR   CCDS; CCDS41702.1; -. [Q8N131-1]
DR   RefSeq; NP_443164.2; NM_052932.2. [Q8N131-1]
DR   AlphaFoldDB; Q8N131; -.
DR   BioGRID; 125396; 14.
DR   IntAct; Q8N131; 8.
DR   STRING; 9606.ENSP00000381204; -.
DR   GlyCosmos; Q8N131; 10 sites, 1 glycan.
DR   GlyGen; Q8N131; 14 sites, 3 O-linked glycans (5 sites).
DR   iPTMnet; Q8N131; -.
DR   PhosphoSitePlus; Q8N131; -.
DR   BioMuta; TMEM123; -.
DR   DMDM; 74728484; -.
DR   EPD; Q8N131; -.
DR   jPOST; Q8N131; -.
DR   MassIVE; Q8N131; -.
DR   PaxDb; 9606-ENSP00000381204; -.
DR   PeptideAtlas; Q8N131; -.
DR   ProteomicsDB; 71532; -. [Q8N131-1]
DR   ProteomicsDB; 71533; -. [Q8N131-2]
DR   Pumba; Q8N131; -.
DR   Antibodypedia; 31754; 190 antibodies from 27 providers.
DR   DNASU; 114908; -.
DR   Ensembl; ENST00000361236.7; ENSP00000355285.3; ENSG00000152558.15. [Q8N131-2]
DR   Ensembl; ENST00000398136.7; ENSP00000381204.2; ENSG00000152558.15. [Q8N131-1]
DR   GeneID; 114908; -.
DR   KEGG; hsa:114908; -.
DR   MANE-Select; ENST00000398136.7; ENSP00000381204.2; NM_052932.3; NP_443164.2.
DR   UCSC; uc001pha.4; human. [Q8N131-1]
DR   AGR; HGNC:30138; -.
DR   CTD; 114908; -.
DR   GeneCards; TMEM123; -.
DR   HGNC; HGNC:30138; TMEM123.
DR   HPA; ENSG00000152558; Low tissue specificity.
DR   MIM; 606356; gene.
DR   neXtProt; NX_Q8N131; -.
DR   OpenTargets; ENSG00000152558; -.
DR   PharmGKB; PA143485643; -.
DR   VEuPathDB; HostDB:ENSG00000152558; -.
DR   eggNOG; ENOG502SAV2; Eukaryota.
DR   GeneTree; ENSGT00530000063929; -.
DR   InParanoid; Q8N131; -.
DR   OMA; FSANLCD; -.
DR   OrthoDB; 5267011at2759; -.
DR   PhylomeDB; Q8N131; -.
DR   TreeFam; TF350123; -.
DR   PathwayCommons; Q8N131; -.
DR   SignaLink; Q8N131; -.
DR   BioGRID-ORCS; 114908; 13 hits in 1163 CRISPR screens.
DR   ChiTaRS; TMEM123; human.
DR   GeneWiki; TMEM123; -.
DR   GenomeRNAi; 114908; -.
DR   Pharos; Q8N131; Tbio.
DR   PRO; PR:Q8N131; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q8N131; Protein.
DR   Bgee; ENSG00000152558; Expressed in palpebral conjunctiva and 210 other cell types or tissues.
DR   ExpressionAtlas; Q8N131; baseline and differential.
DR   GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
DR   GO; GO:0009897; C:external side of plasma membrane; IDA:UniProtKB.
DR   GO; GO:0016020; C:membrane; NAS:UniProtKB.
DR   GO; GO:0038023; F:signaling receptor activity; NAS:UniProtKB.
DR   InterPro; IPR007947; CD164_MGC24.
DR   PANTHER; PTHR11337; MUCIN/PORIMIN; 1.
DR   PANTHER; PTHR11337:SF14; PORIMIN; 1.
DR   Pfam; PF05283; MGC-24; 1.
DR   Genevisible; Q8N131; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Direct protein sequencing; Glycoprotein; Membrane;
KW   Receptor; Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT   SIGNAL          1..26
FT   CHAIN           27..208
FT                   /note="Porimin"
FT                   /id="PRO_0000045058"
FT   TOPO_DOM        27..166
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        167..187
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        188..208
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          42..125
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   CARBOHYD        46
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        50
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        64
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        68
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        83
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        96
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        106
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        124
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        138
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         34..52
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:11481458"
FT                   /id="VSP_016605"
FT   VARIANT         71
FT                   /note="V -> M (in dbSNP:rs2155587)"
FT                   /id="VAR_053023"
FT   VARIANT         86
FT                   /note="V -> F (in dbSNP:rs11547915)"
FT                   /id="VAR_053024"
FT   VARIANT         158
FT                   /note="A -> T (in dbSNP:rs12288849)"
FT                   /id="VAR_053025"
FT   CONFLICT        19
FT                   /note="V -> A (in Ref. 2; AAO13164)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   208 AA;  21531 MW;  5120EE933411819E CRC64;
     MGLGARGAWA ALLLGTLQVL ALLGAAHESA AMAASANIEN SGLPHNSSAN STETLQHVPS
     DHTNETSNST VKPPTSVASD SSNTTVTTMK PTAASNTTTP GMVSTNMTST TLKSTPKTTS
     VSQNTSQIST STMTVTHNSS VTSAASSVTI TTTMHSEAKK GSKFDTGSFV GGIVLTLGVL
     SILYIGCKMY YSRRGIRYRT IDEHDAII
//