PORIM_HUMAN
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 03-AUG-2022, entry version 141.
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 GlyGen; Q8N131; 10 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N131; -.
DR PhosphoSitePlus; Q8N131; -.
DR BioMuta; TMEM123; -.
DR DMDM; 74728484; -.
DR EPD; Q8N131; -.
DR jPOST; Q8N131; -.
DR MassIVE; Q8N131; -.
DR PaxDb; Q8N131; -.
DR PeptideAtlas; Q8N131; -.
DR PRIDE; Q8N131; -.
DR ProteomicsDB; 71532; -. [Q8N131-1]
DR ProteomicsDB; 71533; -. [Q8N131-2]
DR Antibodypedia; 31754; 154 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 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; 1551427at2759; -.
DR PhylomeDB; Q8N131; -.
DR TreeFam; TF350123; -.
DR PathwayCommons; Q8N131; -.
DR SignaLink; Q8N131; -.
DR BioGRID-ORCS; 114908; 11 hits in 1085 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 208 other tissues.
DR ExpressionAtlas; Q8N131; baseline and differential.
DR Genevisible; Q8N131; HS.
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:0016021; C:integral component of membrane; NAS:UniProtKB.
DR GO; GO:0038023; F:signaling receptor activity; NAS:UniProtKB.
DR GO; GO:0070267; P:oncosis; IDA:UniProtKB.
DR InterPro; IPR007947; CD164_MGC24.
DR PANTHER; PTHR11337; PTHR11337; 1.
DR Pfam; PF05283; MGC-24; 1.
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
