ID   TMM52_HUMAN             Reviewed;         209 AA.
AC   Q8NDY8; Q4VXS6; Q6UX25;
DT   17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   03-AUG-2022, entry version 114.
DE   RecName: Full=Transmembrane protein 52;
DE   Flags: Precursor;
GN   Name=TMEM52; ORFNames=UNQ3048/PRO9864;
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 1).
RC   TISSUE=Skeletal muscle;
RA   Ievolella C., Zara I., Frigimelica E., Faulkner G., Lanfranchi G.;
RT   "Full length sequencing of some human and murine muscular transcripts
RT   (Telethon Italy project B41).";
RL   Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT THR-141.
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC       protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8NDY8-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8NDY8-2; Sequence=VSP_024420;
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DR   EMBL; AJ278736; CAC82104.1; -; mRNA.
DR   EMBL; AY358544; AAQ88908.1; -; mRNA.
DR   EMBL; AL109917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS35.1; -. [Q8NDY8-1]
DR   RefSeq; NP_848640.1; NM_178545.3. [Q8NDY8-1]
DR   AlphaFoldDB; Q8NDY8; -.
DR   BioGRID; 130887; 1.
DR   IntAct; Q8NDY8; 4.
DR   STRING; 9606.ENSP00000311122; -.
DR   BioMuta; TMEM52; -.
DR   DMDM; 74751239; -.
DR   PaxDb; Q8NDY8; -.
DR   PeptideAtlas; Q8NDY8; -.
DR   PRIDE; Q8NDY8; -.
DR   Antibodypedia; 12513; 4 antibodies from 3 providers.
DR   DNASU; 339456; -.
DR   Ensembl; ENST00000310991.8; ENSP00000311122.3; ENSG00000178821.13. [Q8NDY8-1]
DR   Ensembl; ENST00000378602.3; ENSP00000367865.3; ENSG00000178821.13. [Q8NDY8-2]
DR   GeneID; 339456; -.
DR   KEGG; hsa:339456; -.
DR   MANE-Select; ENST00000310991.8; ENSP00000311122.3; NM_178545.4; NP_848640.1.
DR   UCSC; uc001aii.2; human. [Q8NDY8-1]
DR   CTD; 339456; -.
DR   DisGeNET; 339456; -.
DR   GeneCards; TMEM52; -.
DR   HGNC; HGNC:27916; TMEM52.
DR   HPA; ENSG00000178821; Group enriched (pancreas, skeletal muscle, tongue).
DR   neXtProt; NX_Q8NDY8; -.
DR   OpenTargets; ENSG00000178821; -.
DR   PharmGKB; PA142670768; -.
DR   VEuPathDB; HostDB:ENSG00000178821; -.
DR   eggNOG; ENOG502S32F; Eukaryota.
DR   GeneTree; ENSGT00730000111432; -.
DR   HOGENOM; CLU_100623_1_0_1; -.
DR   InParanoid; Q8NDY8; -.
DR   OMA; CDPSDLC; -.
DR   OrthoDB; 1440362at2759; -.
DR   PhylomeDB; Q8NDY8; -.
DR   TreeFam; TF336037; -.
DR   PathwayCommons; Q8NDY8; -.
DR   SignaLink; Q8NDY8; -.
DR   BioGRID-ORCS; 339456; 24 hits in 1083 CRISPR screens.
DR   GenomeRNAi; 339456; -.
DR   Pharos; Q8NDY8; Tdark.
DR   PRO; PR:Q8NDY8; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q8NDY8; protein.
DR   Bgee; ENSG00000178821; Expressed in hindlimb stylopod muscle and 118 other tissues.
DR   ExpressionAtlas; Q8NDY8; baseline and differential.
DR   Genevisible; Q8NDY8; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   InterPro; IPR038942; TMEM52.
DR   PANTHER; PTHR33955; PTHR33955; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Membrane; Reference proteome; Signal; Transmembrane;
KW   Transmembrane helix.
FT   SIGNAL          1..32
FT                   /evidence="ECO:0000255"
FT   CHAIN           33..209
FT                   /note="Transmembrane protein 52"
FT                   /id="PRO_0000284057"
FT   TRANSMEM        56..76
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   REGION          145..209
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         2..57
FT                   /note="ARGPLAARGLRLLLPLLPLLPLLPLPQVALGFADGSCDPSDQCPPQARWSSL
FT                   WHVG -> ERHCLLFILLTCLRWLCHDIPQGAGARWPRVSPVVEPCSPR (in
FT                   isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:12975309"
FT                   /id="VSP_024420"
FT   VARIANT         141
FT                   /note="M -> T (in dbSNP:rs28640257)"
FT                   /evidence="ECO:0000269|PubMed:12975309"
FT                   /id="VAR_031653"
FT   VARIANT         141
FT                   /note="M -> V (in dbSNP:rs4459050)"
FT                   /id="VAR_051448"
FT   CONFLICT        Q8NDY8-2:25
FT                   /note="A -> S (in Ref. 2; AAQ88908)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   209 AA;  22122 MW;  FF6947931C84311A CRC64;
     MARGPLAARG LRLLLPLLPL LPLLPLPQVA LGFADGSCDP SDQCPPQARW SSLWHVGLIL
     LAVLLLLLCG VTAGCVRFCC LRKQAQAQPH LPPARQPCDV AVIPMDSDSP VHSTVTSYSS
     VQYPLGMRLP LPFGELDLDS MAPPAYSLYT PEPPPSYDEA VKMAKPREEG PALSQKPSPL
     LGASGLETTP VPQESGPNTQ LPPCSPGAP