Q5EB52 (MEST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Mesoderm-specific transcript homolog protein
EC=3.-.-.-

Alternative name(s):
Paternally-expressed gene 1 protein

Gene names

Name:	MEST
Synonyms:	PEG1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	335 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.
Tissue specificity	Highly expressed in hydatidiform moles, but barely expressed in dermoid cysts. Biallelic expression is detected in blood lymphocytes. Seems to imprinted in an isoform-specific manner rather than in a tissue-specific manner in lymphocytes. Isoform 1 is expressed only from the paternal allele. Isoform 2 is expressed from both the paternal allele and the maternal allele. Ref.1 Ref.2 Ref.11
Developmental stage	Monoallelic expression of paternally derived allele was observed in all fetal tissues examined, including brain, skeletal muscle, kidney, adrenal, tongue, heart, skin and placenta. In 75-day fetus, expressed in the amnion, brain, heart, lung, stomach, gut, adrenal, kidney, muscle and liver. Ref.1 Ref.2 Ref.3
Sequence similarities	Belongs to the AB hydrolase superfamily.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	mesoderm development Traceable author statement Ref.3. Source: ProtInc metabolic process Inferred from electronic annotation. Source: GOC regulation of lipid storage Inferred from electronic annotation. Source: Compara response to retinoic acid Inferred from electronic annotation. Source: Compara
Cellular_component	endoplasmic reticulum Inferred from sequence or structural similarity. Source: UniProtKB endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5EB52-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q5EB52-2)

Also known as: Isoform b;

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.

Isoform 3 (identifier: Q5EB52-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
     218-251: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 335	335	Mesoderm-specific transcript homolog protein		PRO_0000284418
Regions
	Transmembrane	13 – 33	21	Helical; Potential
	Transmembrane	63 – 83	21	Helical; Potential
	Transmembrane	266 – 286	21	Helical; Potential
	Motif	98 – 103	6	RVIALD
Amino acid modifications
	Glycosylation	163	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 9	9	Missing in isoform 2 and isoform 3.		VSP_024532
	Alternative sequence	218 – 251	34	Missing in isoform 3.		VSP_024533
Experimental info
	Sequence conflict	90	1	E → K in BAA11432. Ref.1
	Sequence conflict	168	1	L → H in BAA11432. Ref.1
	Sequence conflict	222	1	G → W in BAA21757. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 17, 2007. Version 2. Checksum: D2EC0CD6BEC9079A	FASTA	335	38,830
	10 20 30 40 50 60 MVRRDRLRRM REWWVQVGLL AVPLLAAYLH IPPPQLSPAL HSWKSSGKFF TYKGLRIFYQ 70 80 90 100 110 120 DSVGVVGSPE IVVLLHGFPT SSYDWYKIWE GLTLRFHRVI ALDFLGFGFS DKPRPHHYSI 130 140 150 160 170 180 FEQASIVEAL LRHLGLQNRR INLLSHDYGD IVAQELLYRY KQNRSGRLTI KSLCLSNGGI 190 200 210 220 230 240 FPETHRPLLL QKLLKDGGVL SPILTRLMNF FVFSRGLTPV FGPYTRPSES ELWDMWAGIR 250 260 270 280 290 300 NNDGNLVIDS LLQYINQRKK FRRRWVGALA SVTIPIHFIY GPLDPVNPYP EFLELYRKTL 310 320 330 PRSTVSILDD HISHYPQLED PMGFLNAYMG FINSF
	Isoform 2 (Isoform b) [UniParc]. Checksum: 3B524B416A48A292	FASTA	326	37,591
	10 20 30 40 50 60 MREWWVQVGL LAVPLLAAYL HIPPPQLSPA LHSWKSSGKF FTYKGLRIFY QDSVGVVGSP 70 80 90 100 110 120 EIVVLLHGFP TSSYDWYKIW EGLTLRFHRV IALDFLGFGF SDKPRPHHYS IFEQASIVEA 130 140 150 160 170 180 LLRHLGLQNR RINLLSHDYG DIVAQELLYR YKQNRSGRLT IKSLCLSNGG IFPETHRPLL 190 200 210 220 230 240 LQKLLKDGGV LSPILTRLMN FFVFSRGLTP VFGPYTRPSE SELWDMWAGI RNNDGNLVID 250 260 270 280 290 300 SLLQYINQRK KFRRRWVGAL ASVTIPIHFI YGPLDPVNPY PEFLELYRKT LPRSTVSILD 310 320 DHISHYPQLE DPMGFLNAYM GFINSF
	Isoform 3 [UniParc]. Checksum: E0F310C8D967DB49	FASTA	292	33,757
	10 20 30 40 50 60 MREWWVQVGL LAVPLLAAYL HIPPPQLSPA LHSWKSSGKF FTYKGLRIFY QDSVGVVGSP 70 80 90 100 110 120 EIVVLLHGFP TSSYDWYKIW EGLTLRFHRV IALDFLGFGF SDKPRPHHYS IFEQASIVEA 130 140 150 160 170 180 LLRHLGLQNR RINLLSHDYG DIVAQELLYR YKQNRSGRLT IKSLCLSNGG IFPETHRPLL 190 200 210 220 230 240 LQKLLKDGGV LSPILTRLMN FFVFSRGLLQ YINQRKKFRR RWVGALASVT IPIHFIYGPL 250 260 270 280 290 DPVNPYPEFL ELYRKTLPRS TVSILDDHIS HYPQLEDPMG FLNAYMGFIN SF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genomic imprinting and chromosomal localization of the human MEST gene." Nishita Y., Yoshida I., Sado T., Takagi N. Genomics 36:539-542(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Fetus.
[2]	"Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses." Riesewijk A.M., Hu L., Schulz U., Tariverdian G., Hoglund P., Kere J., Ropers H.-H., Kalscheuer V.M. Genomics 42:236-244(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE. Tissue: Fetus.
[3]	"Human PEG1/MEST, an imprinted gene on chromosome 7." Kobayashi S., Kohda T., Miyoshi N., Kuroiwa Y., Aisaka K., Tsutsumi O., Kaneko-Ishino T., Ishino F. Hum. Mol. Genet. 6:781-786(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE. Tissue: Fetal kidney.
[4]	"Screening for the mutations of the PEG1/MEST gene in Silver Russell Syndrome." Kobayashi S., Uemura H., Kohda T., Niikawa N., Yamada M., Yamasaki R., Kaneko-Ishino T., Ishino F. Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Placenta.
[5]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[7]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[8]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Small intestine.
[9]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Muscle and Testis.
[11]	"Isoform-specific imprinting of the human PEG1/MEST gene." Kosaki K., Kosaki R., Craigen W.J., Matsuo N. Am. J. Hum. Genet. 66:309-312(2000) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY (ISOFORMS 1 AND 2).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D78611 mRNA. Translation: BAA11432.1. Y11534 mRNA. Translation: CAA72297.1. D87367 mRNA. Translation: BAA21757.1. AB045582 Genomic DNA. Translation: BAC02716.1. BT007056 mRNA. Translation: AAP35705.1. CR457040 mRNA. Translation: CAG33321.1. AK312688 mRNA. Translation: BAG35568.1. CR627364 mRNA. Translation: CAH10465.1. CH471070 Genomic DNA. Translation: EAW83766.1. BC002413 mRNA. Translation: AAH02413.1. BC090049 mRNA. Translation: AAH90049.1. BC011908 mRNA. Translation: AAH11908.1. BC014564 mRNA. Translation: AAH14564.1. BC018695 mRNA. Translation: AAH18695.1.
IPI	IPI00298947. IPI00414000. IPI00554507.
RefSeq	NP_001240829.1. NM_001253900.1. NP_001240830.1. NM_001253901.1. NP_001240831.1. NM_001253902.1. NP_002393.2. NM_002402.3. NP_803490.1. NM_177524.2. NP_803491.1. NM_177525.2.
UniGene	Hs.270978.
3D structure databases
ProteinModelPortal	Q5EB52.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5EB52. 2 interactions.
MINT	MINT-8247567.
STRING	9606.ENSP00000223215.
Protein family/group databases
MEROPS	S33.972.
PTM databases
PhosphoSite	Q5EB52.
Polymorphism databases
DMDM	145566794.
Proteomic databases
PaxDb	Q5EB52.
PRIDE	Q5EB52.
Protocols and materials databases
DNASU	4232.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000223215; ENSP00000223215; ENSG00000106484. ENST00000341441; ENSP00000342749; ENSG00000106484. ENST00000378576; ENSP00000367839; ENSG00000106484. ENST00000393187; ENSP00000376884; ENSG00000106484. ENST00000416162; ENSP00000408933; ENSG00000106484. ENST00000578652; ENSP00000462286; ENSG00000264872. ENST00000580802; ENSP00000463277; ENSG00000264872. ENST00000582292; ENSP00000463571; ENSG00000264872. ENST00000583792; ENSP00000464161; ENSG00000264872. ENST00000585116; ENSP00000463883; ENSG00000264872.
GeneID	4232.
KEGG	hsa:4232.
UCSC	uc003vqc.3. human. uc003vqd.3. human.
Organism-specific databases
CTD	4232.
GeneCards	GC07P130126.
H-InvDB	HIX0167823.
HGNC	HGNC:7028. MEST.
HPA	HPA005623.
MIM	601029. gene.
neXtProt	NX_Q5EB52.
PharmGKB	PA30762.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0596.
HOGENOM	HOG000049677.
HOVERGEN	HBG052816.
InParanoid	Q5EB52.
OMA	YRFKQNR.
OrthoDB	EOG4J6RR7.
PhylomeDB	Q5EB52.
Gene expression databases
ArrayExpress	Q5EB52.
Bgee	Q5EB52.
CleanEx	HS_MEST.
Genevestigator	Q5EB52.
Family and domain databases
InterPro	IPR000639. Epox_hydrolase-like. [Graphical view]
PRINTS	PR00412. EPOXHYDRLASE.
ProtoNet	Search...
Other
ChiTaRS	MEST. human.
GenomeRNAi	4232.
NextBio	16681.
SOURCE	Search...

Entry information

Entry name

MEST_HUMAN

Accession

Primary (citable) accession number: Q5EB52
Secondary accession number(s): B2R6S1 , O14973, O15007, Q6AI49, Q92571

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	April 17, 2007
Last modified:	May 29, 2013
This is version 78 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.