ID MEST_HUMAN Reviewed; 335 AA. AC Q5EB52; B2R6S1; O14973; O15007; Q6AI49; Q92571; DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot. DT 17-APR-2007, sequence version 2. DT 27-MAR-2024, entry version 151. DE RecName: Full=Mesoderm-specific transcript homolog protein; DE EC=3.-.-.-; DE AltName: Full=Paternally-expressed gene 1 protein; GN Name=MEST; Synonyms=PEG1; 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), TISSUE SPECIFICITY, AND RP DEVELOPMENTAL STAGE. RC TISSUE=Fetus; RX PubMed=8884280; DOI=10.1006/geno.1996.0502; RA Nishita Y., Yoshida I., Sado T., Takagi N.; RT "Genomic imprinting and chromosomal localization of the human MEST gene."; RL Genomics 36:539-542(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, AND RP DEVELOPMENTAL STAGE. RC TISSUE=Fetus; RX PubMed=9192843; DOI=10.1006/geno.1997.4731; RA Riesewijk A.M., Hu L., Schulz U., Tariverdian G., Hoglund P., Kere J., RA Ropers H.-H., Kalscheuer V.M.; RT "Monoallelic expression of human PEG1/MEST is paralleled by parent-specific RT methylation in fetuses."; RL Genomics 42:236-244(1997). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND DEVELOPMENTAL STAGE. RC TISSUE=Fetal kidney; RX PubMed=9158153; DOI=10.1093/hmg/6.5.781; RA Kobayashi S., Kohda T., Miyoshi N., Kuroiwa Y., Aisaka K., Tsutsumi O., RA Kaneko-Ishino T., Ishino F.; RT "Human PEG1/MEST, an imprinted gene on chromosome 7."; RL Hum. Mol. Genet. 6:781-786(1997). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RC TISSUE=Placenta; RA Kobayashi S., Uemura H., Kohda T., Niikawa N., Yamada M., Yamasaki R., RA Kaneko-Ishino T., Ishino F.; RT "Screening for the mutations of the PEG1/MEST gene in Silver Russell RT Syndrome."; RL Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."; RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases. RN [6] 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 [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). 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 [8] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=Small intestine; 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 [9] 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [10] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). RC TISSUE=Muscle, and Testis; 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 [11] RP TISSUE SPECIFICITY (ISOFORMS 1 AND 2). RX PubMed=10631159; DOI=10.1086/302712; RA Kosaki K., Kosaki R., Craigen W.J., Matsuo N.; RT "Isoform-specific imprinting of the human PEG1/MEST gene."; RL Am. J. Hum. Genet. 66:309-312(2000). CC -!- INTERACTION: CC Q5EB52; O95873: C6orf47; NbExp=3; IntAct=EBI-1050204, EBI-719613; CC Q5EB52; Q9H5X1: CIAO2A; NbExp=3; IntAct=EBI-1050204, EBI-752069; CC Q5EB52; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-1050204, EBI-7062247; CC Q5EB52; Q05329: GAD2; NbExp=3; IntAct=EBI-1050204, EBI-9304251; CC Q5EB52; Q9H400: LIME1; NbExp=3; IntAct=EBI-1050204, EBI-2830566; CC Q5EB52; Q6ZMZ0: RNF19B; NbExp=3; IntAct=EBI-1050204, EBI-2466594; CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; CC Multi-pass membrane protein {ECO:0000250}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q5EB52-1; Sequence=Displayed; CC Name=2; Synonyms=Isoform b; CC IsoId=Q5EB52-2; Sequence=VSP_024532; CC Name=3; CC IsoId=Q5EB52-3; Sequence=VSP_024532, VSP_024533; CC -!- TISSUE SPECIFICITY: Highly expressed in hydatidiform moles, but barely CC expressed in dermoid cysts. Biallelic expression is detected in blood CC lymphocytes. Seems to imprinted in an isoform-specific manner rather CC than in a tissue-specific manner in lymphocytes. Isoform 1 is expressed CC only from the paternal allele. Isoform 2 is expressed from both the CC paternal allele and the maternal allele. {ECO:0000269|PubMed:8884280, CC ECO:0000269|PubMed:9192843}. CC -!- DEVELOPMENTAL STAGE: Monoallelic expression of paternally derived CC allele was observed in all fetal tissues examined, including brain, CC skeletal muscle, kidney, adrenal, tongue, heart, skin and placenta. In CC 75-day fetus, expressed in the amnion, brain, heart, lung, stomach, CC gut, adrenal, kidney, muscle and liver. {ECO:0000269|PubMed:8884280, CC ECO:0000269|PubMed:9158153, ECO:0000269|PubMed:9192843}. CC -!- SIMILARITY: Belongs to the AB hydrolase superfamily. {ECO:0000305}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; D78611; BAA11432.1; -; mRNA. DR EMBL; Y11534; CAA72297.1; -; mRNA. DR EMBL; D87367; BAA21757.1; -; mRNA. DR EMBL; AB045582; BAC02716.1; -; Genomic_DNA. DR EMBL; BT007056; AAP35705.1; -; mRNA. DR EMBL; CR457040; CAG33321.1; -; mRNA. DR EMBL; AK312688; BAG35568.1; -; mRNA. DR EMBL; CR627364; CAH10465.1; -; mRNA. DR EMBL; CH471070; EAW83766.1; -; Genomic_DNA. DR EMBL; BC002413; AAH02413.1; -; mRNA. DR EMBL; BC090049; AAH90049.1; -; mRNA. DR EMBL; BC011908; AAH11908.1; -; mRNA. DR EMBL; BC014564; AAH14564.1; -; mRNA. DR EMBL; BC018695; AAH18695.1; -; mRNA. DR CCDS; CCDS5822.1; -. [Q5EB52-1] DR CCDS; CCDS5823.1; -. [Q5EB52-2] DR CCDS; CCDS59081.1; -. [Q5EB52-3] DR RefSeq; NP_001240829.1; NM_001253900.1. DR RefSeq; NP_001240830.1; NM_001253901.1. [Q5EB52-3] DR RefSeq; NP_001240831.1; NM_001253902.1. [Q5EB52-3] DR RefSeq; NP_002393.2; NM_002402.3. [Q5EB52-1] DR RefSeq; NP_803490.1; NM_177524.2. [Q5EB52-2] DR RefSeq; NP_803491.1; NM_177525.2. [Q5EB52-2] DR RefSeq; XP_016867707.1; XM_017012218.1. [Q5EB52-2] DR AlphaFoldDB; Q5EB52; -. DR SMR; Q5EB52; -. DR BioGRID; 110390; 46. DR IntAct; Q5EB52; 24. DR MINT; Q5EB52; -. DR STRING; 9606.ENSP00000223215; -. DR ChEMBL; CHEMBL4523324; -. DR ESTHER; human-MEST; MEST-like. DR MEROPS; S33.972; -. DR GlyCosmos; Q5EB52; 1 site, No reported glycans. DR GlyGen; Q5EB52; 1 site. DR iPTMnet; Q5EB52; -. DR PhosphoSitePlus; Q5EB52; -. DR SwissPalm; Q5EB52; -. DR BioMuta; MEST; -. DR DMDM; 145566794; -. DR EPD; Q5EB52; -. DR jPOST; Q5EB52; -. DR MassIVE; Q5EB52; -. DR MaxQB; Q5EB52; -. DR PaxDb; 9606-ENSP00000223215; -. DR PeptideAtlas; Q5EB52; -. DR ProteomicsDB; 62757; -. [Q5EB52-1] DR ProteomicsDB; 62758; -. [Q5EB52-2] DR ProteomicsDB; 62759; -. [Q5EB52-3] DR Antibodypedia; 946; 138 antibodies from 32 providers. DR DNASU; 4232; -. DR Ensembl; ENST00000223215.10; ENSP00000223215.4; ENSG00000106484.16. [Q5EB52-1] DR Ensembl; ENST00000341441.9; ENSP00000342749.4; ENSG00000106484.16. [Q5EB52-2] DR Ensembl; ENST00000378576.9; ENSP00000367839.4; ENSG00000106484.16. [Q5EB52-3] DR Ensembl; ENST00000393187.5; ENSP00000376884.1; ENSG00000106484.16. [Q5EB52-2] DR Ensembl; ENST00000416162.7; ENSP00000408933.2; ENSG00000106484.16. [Q5EB52-3] DR Ensembl; ENST00000427521.6; ENSP00000409505.2; ENSG00000106484.16. [Q5EB52-3] DR Ensembl; ENST00000462132.6; ENSP00000495770.1; ENSG00000106484.16. [Q5EB52-2] DR GeneID; 4232; -. DR KEGG; hsa:4232; -. DR MANE-Select; ENST00000223215.10; ENSP00000223215.4; NM_002402.4; NP_002393.2. DR UCSC; uc003vqc.4; human. [Q5EB52-1] DR AGR; HGNC:7028; -. DR CTD; 4232; -. DR DisGeNET; 4232; -. DR GeneCards; MEST; -. DR HGNC; HGNC:7028; MEST. DR HPA; ENSG00000106484; Tissue enriched (placenta). DR MIM; 601029; gene. DR neXtProt; NX_Q5EB52; -. DR OpenTargets; ENSG00000106484; -. DR PharmGKB; PA30762; -. DR VEuPathDB; HostDB:ENSG00000106484; -. DR eggNOG; KOG4178; Eukaryota. DR GeneTree; ENSGT00510000047602; -. DR HOGENOM; CLU_020336_3_0_1; -. DR InParanoid; Q5EB52; -. DR OMA; CDMLGFG; -. DR OrthoDB; 907220at2759; -. DR PhylomeDB; Q5EB52; -. DR TreeFam; TF329307; -. DR PathwayCommons; Q5EB52; -. DR SignaLink; Q5EB52; -. DR SIGNOR; Q5EB52; -. DR BioGRID-ORCS; 4232; 18 hits in 1143 CRISPR screens. DR ChiTaRS; MEST; human. DR GeneWiki; MEST_(gene); -. DR GenomeRNAi; 4232; -. DR Pharos; Q5EB52; Tbio. DR PRO; PR:Q5EB52; -. DR Proteomes; UP000005640; Chromosome 7. DR RNAct; Q5EB52; Protein. DR Bgee; ENSG00000106484; Expressed in cartilage tissue and 213 other cell types or tissues. DR ExpressionAtlas; Q5EB52; baseline and differential. DR GO; GO:0005783; C:endoplasmic reticulum; ISS:UniProtKB. DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell. DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB. DR GO; GO:0016787; F:hydrolase activity; IEA:UniProtKB-KW. DR GO; GO:0007498; P:mesoderm development; TAS:ProtInc. DR Gene3D; 3.40.50.1820; alpha/beta hydrolase; 1. DR InterPro; IPR029058; AB_hydrolase. DR InterPro; IPR000073; AB_hydrolase_1. DR InterPro; IPR000639; Epox_hydrolase-like. DR PANTHER; PTHR43798; MONOACYLGLYCEROL LIPASE; 1. DR PANTHER; PTHR43798:SF5; MONOACYLGLYCEROL LIPASE ABHD6; 1. DR Pfam; PF00561; Abhydrolase_1; 1. DR PRINTS; PR00412; EPOXHYDRLASE. DR SUPFAM; SSF53474; alpha/beta-Hydrolases; 1. DR Genevisible; Q5EB52; HS. PE 1: Evidence at protein level; KW Alternative splicing; Endoplasmic reticulum; Glycoprotein; Hydrolase; KW Membrane; Reference proteome; Transmembrane; Transmembrane helix. FT CHAIN 1..335 FT /note="Mesoderm-specific transcript homolog protein" FT /id="PRO_0000284418" FT TRANSMEM 13..33 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 63..83 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 266..286 FT /note="Helical" FT /evidence="ECO:0000255" FT DOMAIN 71..310 FT /note="AB hydrolase-1" FT /evidence="ECO:0000255" FT MOTIF 98..103 FT /note="RVIALD" FT CARBOHYD 163 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT VAR_SEQ 1..9 FT /note="Missing (in isoform 2 and isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:17974005" FT /id="VSP_024532" FT VAR_SEQ 218..251 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_024533" FT CONFLICT 90 FT /note="E -> K (in Ref. 1; BAA11432)" FT /evidence="ECO:0000305" FT CONFLICT 168 FT /note="L -> H (in Ref. 1; BAA11432)" FT /evidence="ECO:0000305" FT CONFLICT 222 FT /note="G -> W (in Ref. 3; BAA21757)" FT /evidence="ECO:0000305" SQ SEQUENCE 335 AA; 38830 MW; D2EC0CD6BEC9079A CRC64; MVRRDRLRRM REWWVQVGLL AVPLLAAYLH IPPPQLSPAL HSWKSSGKFF TYKGLRIFYQ DSVGVVGSPE IVVLLHGFPT SSYDWYKIWE GLTLRFHRVI ALDFLGFGFS DKPRPHHYSI FEQASIVEAL LRHLGLQNRR INLLSHDYGD IVAQELLYRY KQNRSGRLTI KSLCLSNGGI FPETHRPLLL QKLLKDGGVL SPILTRLMNF FVFSRGLTPV FGPYTRPSES ELWDMWAGIR NNDGNLVIDS LLQYINQRKK FRRRWVGALA SVTIPIHFIY GPLDPVNPYP EFLELYRKTL PRSTVSILDD HISHYPQLED PMGFLNAYMG FINSF //