MEST_HUMAN
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 03-AUG-2022, entry version 143.
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}.
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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; 42.
DR IntAct; Q5EB52; 22.
DR MINT; Q5EB52; -.
DR STRING; 9606.ENSP00000223215; -.
DR ChEMBL; CHEMBL4523324; -.
DR ESTHER; human-MEST; MEST-like.
DR MEROPS; S33.972; -.
DR GlyGen; Q5EB52; 1 site.
DR iPTMnet; Q5EB52; -.
DR PhosphoSitePlus; Q5EB52; -.
DR BioMuta; MEST; -.
DR DMDM; 145566794; -.
DR EPD; Q5EB52; -.
DR jPOST; Q5EB52; -.
DR MassIVE; Q5EB52; -.
DR MaxQB; Q5EB52; -.
DR PaxDb; Q5EB52; -.
DR PeptideAtlas; Q5EB52; -.
DR PRIDE; Q5EB52; -.
DR ProteomicsDB; 62757; -. [Q5EB52-1]
DR ProteomicsDB; 62758; -. [Q5EB52-2]
DR ProteomicsDB; 62759; -. [Q5EB52-3]
DR Antibodypedia; 946; 125 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 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 PhylomeDB; Q5EB52; -.
DR TreeFam; TF329307; -.
DR PathwayCommons; Q5EB52; -.
DR SignaLink; Q5EB52; -.
DR SIGNOR; Q5EB52; -.
DR BioGRID-ORCS; 4232; 18 hits in 1065 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 211 other tissues.
DR ExpressionAtlas; Q5EB52; baseline and differential.
DR Genevisible; Q5EB52; HS.
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:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; -; 1.
DR InterPro; IPR029058; AB_hydrolase.
DR InterPro; IPR000073; AB_hydrolase_1.
DR InterPro; IPR000639; Epox_hydrolase-like.
DR Pfam; PF00561; Abhydrolase_1; 1.
DR PRINTS; PR00412; EPOXHYDRLASE.
DR SUPFAM; SSF53474; SSF53474; 1.
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
