TMM53_HUMAN
ID TMM53_HUMAN Reviewed; 277 AA.
AC Q6P2H8; B4DKG0; Q5JPH2; Q6IA07; Q9H6E2;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Transmembrane protein 53;
GN Name=TMEM53;
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 [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney epithelium, and Thalamus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Eye;
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).
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=Q6P2H8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P2H8-2; Sequence=VSP_024446;
CC -!- SIMILARITY: Belongs to the TMEM53 family. {ECO:0000305}.
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DR EMBL; AK026006; BAB15317.1; -; mRNA.
DR EMBL; AK296548; BAG59172.1; -; mRNA.
DR EMBL; CR457348; CAG33629.1; -; mRNA.
DR EMBL; AL832539; CAI46125.1; -; mRNA.
DR EMBL; AL122004; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX07029.1; -; Genomic_DNA.
DR EMBL; BC064520; AAH64520.1; -; mRNA.
DR CCDS; CCDS511.1; -. [Q6P2H8-1]
DR RefSeq; NP_001287675.1; NM_001300746.1. [Q6P2H8-2]
DR RefSeq; NP_001287676.1; NM_001300747.1.
DR RefSeq; NP_001287677.1; NM_001300748.1.
DR RefSeq; NP_078863.2; NM_024587.3. [Q6P2H8-1]
DR AlphaFoldDB; Q6P2H8; -.
DR BioGRID; 122767; 18.
DR IntAct; Q6P2H8; 1.
DR STRING; 9606.ENSP00000361311; -.
DR ESTHER; human-TMEM53; Duf_829.
DR iPTMnet; Q6P2H8; -.
DR PhosphoSitePlus; Q6P2H8; -.
DR BioMuta; TMEM53; -.
DR DMDM; 74758243; -.
DR EPD; Q6P2H8; -.
DR jPOST; Q6P2H8; -.
DR MassIVE; Q6P2H8; -.
DR PaxDb; Q6P2H8; -.
DR PeptideAtlas; Q6P2H8; -.
DR PRIDE; Q6P2H8; -.
DR ProteomicsDB; 66904; -. [Q6P2H8-1]
DR ProteomicsDB; 66905; -. [Q6P2H8-2]
DR Antibodypedia; 18471; 53 antibodies from 13 providers.
DR DNASU; 79639; -.
DR Ensembl; ENST00000372237.8; ENSP00000361311.3; ENSG00000126106.14. [Q6P2H8-1]
DR GeneID; 79639; -.
DR KEGG; hsa:79639; -.
DR MANE-Select; ENST00000372237.8; ENSP00000361311.3; NM_024587.4; NP_078863.2.
DR UCSC; uc001cmc.4; human. [Q6P2H8-1]
DR CTD; 79639; -.
DR GeneCards; TMEM53; -.
DR HGNC; HGNC:26186; TMEM53.
DR HPA; ENSG00000126106; Tissue enhanced (liver).
DR MIM; 619722; gene.
DR neXtProt; NX_Q6P2H8; -.
DR OpenTargets; ENSG00000126106; -.
DR PharmGKB; PA142670769; -.
DR VEuPathDB; HostDB:ENSG00000126106; -.
DR eggNOG; KOG2521; Eukaryota.
DR GeneTree; ENSGT00390000000715; -.
DR HOGENOM; CLU_036503_1_0_1; -.
DR InParanoid; Q6P2H8; -.
DR OMA; SPHVKHY; -.
DR OrthoDB; 916101at2759; -.
DR PhylomeDB; Q6P2H8; -.
DR TreeFam; TF313176; -.
DR PathwayCommons; Q6P2H8; -.
DR SignaLink; Q6P2H8; -.
DR BioGRID-ORCS; 79639; 34 hits in 1076 CRISPR screens.
DR ChiTaRS; TMEM53; human.
DR GenomeRNAi; 79639; -.
DR Pharos; Q6P2H8; Tdark.
DR PRO; PR:Q6P2H8; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q6P2H8; protein.
DR Bgee; ENSG00000126106; Expressed in right lobe of liver and 135 other tissues.
DR ExpressionAtlas; Q6P2H8; baseline and differential.
DR Genevisible; Q6P2H8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005634; C:nucleus; HDA:UniProtKB.
DR Gene3D; 3.40.50.1820; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR008547; DUF829_TMEM53.
DR PANTHER; PTHR12265; PTHR12265; 1.
DR Pfam; PF05705; DUF829; 1.
DR SUPFAM; SSF53474; SSF53474; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..277
FT /note="Transmembrane protein 53"
FT /id="PRO_0000284118"
FT TRANSMEM 171..191
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..73
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_024446"
FT CONFLICT 177
FT /note="F -> L (in Ref. 1; BAB15317)"
FT /evidence="ECO:0000305"
FT CONFLICT 184
FT /note="F -> L (in Ref. 2; CAG33629)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 277 AA; 31630 MW; 487C46C92F78629E CRC64;
MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN LAKYSAIYHK
RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY EIEKEPLLFH VFSNGGVMLY
RYVLELLQTR RFCRLRVVGT IFDSAPGDSN LVGALRALAA ILERRAAMLR LLLLVAFALV
VVLFHVLLAP ITALFHTHFY DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV
LARSVDFVSS AHVSHLRDYP TYYTSLCVDF MRNCVRC
