TM50A_HUMAN
ID TM50A_HUMAN Reviewed; 157 AA.
AC O95807;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 163.
DE RecName: Full=Transmembrane protein 50A;
DE AltName: Full=Small membrane protein 1;
GN Name=TMEM50A; Synonyms=SMP1; ORFNames=UNQ386/PRO718;
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].
RA Hu G.;
RT "A new member of the 18 kDa small membrane protein family in human.";
RL Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [GENOMIC DNA], AND VARIANT VAL-58.
RG SeattleSNPs variation discovery resource;
RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pancreas;
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 ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22223895; DOI=10.1074/mcp.m111.015131;
RA Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T.,
RA Giglione C.;
RT "Comparative large-scale characterisation of plant vs. mammal proteins
RT reveals similar and idiosyncratic N-alpha acetylation features.";
RL Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012).
RN [7]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [9]
RP ACETYLATION AT SER-2, AND CLEAVAGE OF INITIATOR METHIONINE.
RX PubMed=25489052; DOI=10.1093/hmg/ddu611;
RA Myklebust L.M., Van Damme P., Stoeve S.I., Doerfel M.J., Abboud A.,
RA Kalvik T.V., Grauffel C., Jonckheere V., Wu Y., Swensen J., Kaasa H.,
RA Liszczak G., Marmorstein R., Reuter N., Lyon G.J., Gevaert K., Arnesen T.;
RT "Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-
RT acetylation defects.";
RL Hum. Mol. Genet. 24:1956-1976(2015).
CC -!- INTERACTION:
CC O95807; Q9H172: ABCG4; NbExp=3; IntAct=EBI-12903814, EBI-8584118;
CC O95807; Q13520: AQP6; NbExp=3; IntAct=EBI-12903814, EBI-13059134;
CC O95807; P21964: COMT; NbExp=3; IntAct=EBI-12903814, EBI-372265;
CC O95807; Q95HB9: HLA-DPA1; NbExp=3; IntAct=EBI-12903814, EBI-17686856;
CC O95807; O15243: LEPROT; NbExp=3; IntAct=EBI-12903814, EBI-15672507;
CC O95807; O95214: LEPROTL1; NbExp=3; IntAct=EBI-12903814, EBI-750776;
CC O95807; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-12903814, EBI-7545592;
CC O95807; Q8IWU4: SLC30A8; NbExp=3; IntAct=EBI-12903814, EBI-10262251;
CC O95807; Q86SS6: SYT9; NbExp=3; IntAct=EBI-12903814, EBI-19129467;
CC O95807; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-12903814, EBI-8638294;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the UPF0220 family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/smp1/";
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DR EMBL; AF081282; AAD17754.1; -; mRNA.
DR EMBL; AL136627; CAB66562.1; -; mRNA.
DR EMBL; AY358650; AAQ89013.1; -; mRNA.
DR EMBL; AF458851; AAL51108.1; -; Genomic_DNA.
DR EMBL; BC007341; AAH07341.1; -; mRNA.
DR CCDS; CCDS264.1; -.
DR RefSeq; NP_055128.1; NM_014313.3.
DR RefSeq; XP_011539461.1; XM_011541159.1.
DR AlphaFoldDB; O95807; -.
DR BioGRID; 117120; 17.
DR CORUM; O95807; -.
DR IntAct; O95807; 11.
DR STRING; 9606.ENSP00000363478; -.
DR TCDB; 9.B.199.1.1; the 4 tms pf05225 (pf0225) family.
DR GlyGen; O95807; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; O95807; -.
DR PhosphoSitePlus; O95807; -.
DR SwissPalm; O95807; -.
DR BioMuta; TMEM50A; -.
DR jPOST; O95807; -.
DR MassIVE; O95807; -.
DR PaxDb; O95807; -.
DR PeptideAtlas; O95807; -.
DR PRIDE; O95807; -.
DR ProteomicsDB; 51061; -.
DR Antibodypedia; 77930; 5 antibodies from 5 providers.
DR DNASU; 23585; -.
DR Ensembl; ENST00000374358.5; ENSP00000363478.4; ENSG00000183726.11.
DR GeneID; 23585; -.
DR KEGG; hsa:23585; -.
DR MANE-Select; ENST00000374358.5; ENSP00000363478.4; NM_014313.4; NP_055128.1.
DR CTD; 23585; -.
DR DisGeNET; 23585; -.
DR GeneCards; TMEM50A; -.
DR HGNC; HGNC:30590; TMEM50A.
DR HPA; ENSG00000183726; Low tissue specificity.
DR MIM; 605348; gene.
DR neXtProt; NX_O95807; -.
DR OpenTargets; ENSG00000183726; -.
DR PharmGKB; PA142670766; -.
DR VEuPathDB; HostDB:ENSG00000183726; -.
DR eggNOG; KOG3393; Eukaryota.
DR GeneTree; ENSGT00940000157715; -.
DR HOGENOM; CLU_096876_1_0_1; -.
DR InParanoid; O95807; -.
DR OMA; WILFADF; -.
DR OrthoDB; 1422977at2759; -.
DR PhylomeDB; O95807; -.
DR TreeFam; TF300282; -.
DR PathwayCommons; O95807; -.
DR SignaLink; O95807; -.
DR BioGRID-ORCS; 23585; 16 hits in 1079 CRISPR screens.
DR ChiTaRS; TMEM50A; human.
DR GeneWiki; TMEM50A; -.
DR GenomeRNAi; 23585; -.
DR Pharos; O95807; Tdark.
DR PRO; PR:O95807; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O95807; protein.
DR Bgee; ENSG00000183726; Expressed in esophagus squamous epithelium and 197 other tissues.
DR ExpressionAtlas; O95807; baseline and differential.
DR Genevisible; O95807; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:LIFEdb.
DR GO; GO:0097386; C:glial cell projection; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0032511; P:late endosome to vacuole transport via multivesicular body sorting pathway; IBA:GO_Central.
DR InterPro; IPR007919; UPF0220.
DR PANTHER; PTHR13180; PTHR13180; 1.
DR Pfam; PF05255; UPF0220; 1.
PE 1: Evidence at protein level;
KW Acetylation; Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|PubMed:25489052,
FT ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378"
FT CHAIN 2..157
FT /note="Transmembrane protein 50A"
FT /id="PRO_0000174181"
FT TRANSMEM 26..46
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 58..78
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 95..115
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 126..146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0000269|PubMed:25489052,
FT ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378"
FT MOD_RES 2
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VARIANT 58
FT /note="A -> V (in dbSNP:rs3093647)"
FT /evidence="ECO:0000269|Ref.4"
FT /id="VAR_013121"
FT VARIANT 141
FT /note="F -> L"
FT /id="VAR_007851"
SQ SEQUENCE 157 AA; 17400 MW; 8CDF83AA23EBB1FA CRC64;
MSGFLEGLRC SECIDWGEKR NTIASIAAGV LFFTGWWIII DAAVIYPTMK DFNHSYHACG
VIATIAFLMI NAVSNGQVRG DSYSEGCLGQ TGARIWLFVG FMLAFGSLIA SMWILFGGYV
AKEKDIVYPG IAVFFQNAFI FFGGLVFKFG RTEDLWQ
