• Gene id: 4232

Gene Summary

• Gene Symbol: MEST   Gene   UCSC   Ensembl
• Aliases: PEG1
• Gene name: mesoderm specific transcript
• Alternate names: mesoderm-specific transcript homolog protein, paternally-expressed gene 1 protein,
• Gene location: 7q32.2 (130486174: 130506296)     Exons: 15     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been
• OMIM: 601029

Protein Summary

• Protein general information: Q5EB52  
  • Name: Mesoderm specific transcript homolog protein (EC 3. . . ) (Paternally expressed gene 1 protein)
  • Length: 335  
  • Mass: 38,830
  • Tissue specificity: In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen. Isoform 2 is absent from most tissues except for low levels in intestine and kidney. Highest expression of isoform 3 is
• Sequence:

  MVRRDRLRRMREWWVQVGLLAVPLLAAYLHIPPPQLSPALHSWKSSGKFFTYKGLRIFYQDSVGVVGSPEIVVLL
  HGFPTSSYDWYKIWEGLTLRFHRVIALDFLGFGFSDKPRPHHYSIFEQASIVEALLRHLGLQNRRINLLSHDYGD
  IVAQELLYRYKQNRSGRLTIKSLCLSNGGIFPETHRPLLLQKLLKDGGVLSPILTRLMNFFVFSRGLTPVFGPYT
  RPSESELWDMWAGIRNNDGNLVIDSLLQYINQRKKFRRRWVGALASVTIPIHFIYGPLDPVNPYPEFLELYRKTL
  PRSTVSILDDHISHYPQLEDPMGFLNAYMGFINSF

• Structural information:
  • Protein Domains: AB (71-310)
  • Interpro: IPR029058  IPR000073  IPR000639  
  • STRING: ENSP00000223215
• Other Databases: GeneCards:  MEST  Malacards:  MEST

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0007498	mesoderm development	TAS	biological process
GO:0010883	regulation of lipid storage	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0007498	mesoderm development	TAS	biological process
GO:0010883	regulation of lipid storage	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016787	hydrolase activity	IBA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0005783	endoplasmic reticulum	ISS	cellular component
GO:0007498	mesoderm development	TAS	biological process
GO:0010883	regulation of lipid storage	IBA	biological process
GO:0016787	hydrolase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component

Diseases

Associated diseases	References
Cancer (lung)	GAD: 18676680
Cancer (bladder)	GAD: 19692168
Cancer	GAD: 19692168
Cancer (ovarian)	GAD: 20628624
Male factor infertility	MIK: 19880108
Oligozoospermia	MIK: 19880108
Defective human spermatozoa	MIK: 26804237
Abnormal spermatogenesis	MIK: 19880108
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Abnormal spermatogenesis	MIK: IGF2
Asthenozoospermia	MIK: 26804237
Male infertility	MIK: 26804237
Cryptorchidism	MIK: 28606200
Defective human spermatozoa	MIK: 26804237
Idiopathic male infertility	MIK: 19878521
Oligozoospermia	MIK: 19880108
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
19880108	Male factor infertility			25 (10 oligozoospermic, 10 abnormal protamine replacement patients, 5 known fertile donors)	Male infertility	LIT1 MEST SNRPN PLAGL1 PEG3 H19 and IGF2
19880108	Oligozoospermic				Male infertility	LIT1 MEST SNRPN PLAGL1 PEG3 H19 and IGF2
19878521	Idiopathic male infertility	Aberrant imprinting		181 (148 idiopathic infertile men, 33 normozoospermic controls)	Male infertility	IGF2/H19 ICR1 MEST
	Abnormal spermatogenesis			24 (5 with anejaculation, 5 with secondary obstructive azoospermia, 5 with primary obstructive azoospermia, 9 with secretory azoospermia due to hypospermatogenesis)	Male infertility	MEST IGF2
18178607	Oligospermia			15 patients with a sperm count below 10 x 10(6)/ml	Male infertility	H19 MEST
26804237	Asthenozoospermia, Male infertility			95 (46 Asthenozoospermia patients and 49 age-matched normal controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq