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    MEST mesoderm specific transcript [ Homo sapiens (human) ]

    Gene ID: 4232, updated on 14-Nov-2024

    Summary

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    Official Symbol
    MESTprovided by HGNC
    Official Full Name
    mesoderm specific transcriptprovided by HGNC
    Primary source
    HGNC:HGNC:7028
    See related
    Ensembl:ENSG00000106484 MIM:601029; AllianceGenome:HGNC:7028
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEG1
    Summary
    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 linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
    Expression
    Biased expression in placenta (RPKM 292.2), fat (RPKM 48.4) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MEST in Genome Data Viewer
    Location:
    7q32.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130486175..130506465)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131799896..131820184)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130126016..130146306)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26655 Neighboring gene centrosomal protein 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130080543-130081297 Neighboring gene uncharacterized LOC105375505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26656 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:130126788-130127007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18646 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:130143892-130145091 Neighboring gene MEST intronic transcript 1, antisense RNA Neighboring gene microRNA 335 Neighboring gene COPI coat complex subunit gamma 2 Neighboring gene COPG2 imprinted transcript 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:130261863-130262448 Neighboring gene uncharacterized LOC124901746

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Imprinting and expression status of isoforms 1 and 2 of PEG1/MEST gene in uterine leiomyoma. Moon YS, et al. Gynecol Obstet Invest, 2010. PMID 20339302
    2. DNA methylation-associated repression of MEST/PEG1 expression contributes to the invasion of extravillous trophoblast cells. Peng W, et al. Placenta, 2016 Oct. PMID 27697227
    3. Structural Analysis of G-Quadruplex Formation at the Human MEST Promoter. Stevens AJ, et al. PLoS One, 2017. PMID 28052120, Free PMC Article
    4. Mesoderm-specific transcript (MEST) is a negative regulator of human adipocyte differentiation. Karbiener M, et al. Int J Obes (Lond), 2015 Dec. PMID 26119994, Free PMC Article
    5. MEST mediates the impact of prenatal bisphenol A exposure on long-term body weight development. Junge KM, et al. Clin Epigenetics, 2018. PMID 29721103, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MEST promotes immune escape in gastric cancer by downregulating MHCI expression via SHP2.
      Title: MEST promotes immune escape in gastric cancer by downregulating MHCI expression via SHP2.
    2. alpha1,3-fucosylation of MEST promotes invasion potential of cytotrophoblast cells by activating translation initiation.
      Title: α1,3-fucosylation of MEST promotes invasion potential of cytotrophoblast cells by activating translation initiation.
    3. Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis.
      Title: Genome-wide CRISPR/Cas9 screening identifies a targetable MEST-PURA interaction in cancer metastasis.
    4. MiR-29c-3p represses gastric cancer development via modulating MEST.
      Title: MiR-29c-3p represses gastric cancer development via modulating MEST.
    5. Human umbilical cord blood mesenchymal stem cells-derived exosomal microRNA-503-3p inhibits progression of human endometrial cancer cells through downregulating MEST.
      Title: Human umbilical cord blood mesenchymal stem cells-derived exosomal microRNA-503-3p inhibits progression of human endometrial cancer cells through downregulating MEST.
    6. Increased co-expression of MEST and BRCA1 is associated with worse prognosis and immune infiltration in ovarian cancer.
      Title: Increased co-expression of MEST and BRCA1 is associated with worse prognosis and immune infiltration in ovarian cancer.
    7. miR-145-5p Modulates Gefitinib Resistance by Targeting NRAS and MEST in Non-Small Cell Lung Cancer.
      Title: miR-145-5p Modulates Gefitinib Resistance by Targeting NRAS and MEST in Non-Small Cell Lung Cancer.
    8. MEST promotes lung cancer invasion and metastasis by interacting with VCP to activate NF-kappaB signaling.
      Title: MEST promotes lung cancer invasion and metastasis by interacting with VCP to activate NF-κB signaling.
    9. Hypermethylation of Mest promoter causes aberrant Wnt signaling in patients with Alzheimer's disease.
      Title: Hypermethylation of Mest promoter causes aberrant Wnt signaling in patients with Alzheimer's disease.
    10. The effect of folic acid deficiency on Mest/Peg1 in neural tube defects.
      Title: The effect of folic acid deficiency on Mest/Peg1 in neural tube defects.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-04-04)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-04-04)

    ClinGen Genome Curation Page

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC8703, MGC111102, DKFZp686L18234

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mesoderm development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    mesoderm-specific transcript homolog protein
    Names
    paternally-expressed gene 1 protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009226.1 RefSeqGene

      Range
      10881..25261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1033

    mRNA and Protein(s)

    1. NM_001253900.1 → NP_001240829.1  mesoderm-specific transcript homolog protein isoform c

      See identical proteins and their annotated locations for NP_001240829.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AA728839, AK298984, BC090049, CN425918, DC367784
      UniProtKB/TrEMBL
      B4DQW6
      Conserved Domains (2) summary
      pfam00561
      Location:58 → 307
      Abhydrolase_1; alpha/beta hydrolase fold
      cl21494
      Location:56 → 138
      Abhydrolase; alpha/beta hydrolases

    2. NM_001253901.1 → NP_001240830.1  mesoderm-specific transcript homolog protein isoform d precursor

      See identical proteins and their annotated locations for NP_001240830.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks an exon in the coding region and uses a downstream, in-frame start codon, compared to variant 1. Variants 5 and 6 encode the same isoform (d), which is shorter than isoform a.
      Source sequence(s)
      AA728839, BC090049, BG831799
      Consensus CDS
      CCDS59081.1
      UniProtKB/TrEMBL
      C9JW74
      Related
      ENSP00000408933.2, ENST00000416162.7
      Conserved Domains (1) summary
      COG0596
      Location:38 → 278
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    3. NM_001253902.1 → NP_001240831.1  mesoderm-specific transcript homolog protein isoform d precursor

      See identical proteins and their annotated locations for NP_001240831.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks an exon in the coding region and uses a downstream, in-frame start codon, compared to variant 1. Variants 5 and 6 encode the same isoform (d), which is shorter than isoform a.
      Source sequence(s)
      AA728839, BC090049, DA487705
      Consensus CDS
      CCDS59081.1
      UniProtKB/TrEMBL
      C9JW74
      Related
      ENSP00000409505.2, ENST00000427521.6
      Conserved Domains (1) summary
      COG0596
      Location:38 → 278
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    4. NM_002402.4 → NP_002393.2  mesoderm-specific transcript homolog protein isoform a

      See identical proteins and their annotated locations for NP_002393.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). This isoform (a) is imprinted and expressed only from the paternal allele.
      Source sequence(s)
      AA728839, AC007938, BC011908, BC090049, DC367784
      Consensus CDS
      CCDS5822.1
      UniProtKB/Swiss-Prot
      B2R6S1, O14973, O15007, Q5EB52, Q6AI49, Q92571
      UniProtKB/TrEMBL
      C9JW74
      Related
      ENSP00000223215.4, ENST00000223215.10
      Conserved Domains (1) summary
      COG0596
      Location:47 → 321
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    5. NM_177524.2 → NP_803490.1  mesoderm-specific transcript homolog protein isoform b precursor

      See identical proteins and their annotated locations for NP_803490.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (b), which has a shorter N-terminus compared to isoform a. This isoform (b) is biallelically expressed.
      Source sequence(s)
      AA728839, AK098397, BC090049, BG831799
      Consensus CDS
      CCDS5823.1
      UniProtKB/TrEMBL
      A4D1L9, C9JW74
      Related
      ENSP00000342749.4, ENST00000341441.9
      Conserved Domains (1) summary
      COG0596
      Location:38 → 312
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    6. NM_177525.2 → NP_803491.1  mesoderm-specific transcript homolog protein isoform b precursor

      See identical proteins and their annotated locations for NP_803491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 3 encode the same isoform (b), which has a shorter N-terminus compared to isoform a. This isoform (b) is biallelically expressed.
      Source sequence(s)
      AA728839, AU118070, BC090049, DB454206
      Consensus CDS
      CCDS5823.1
      UniProtKB/TrEMBL
      A4D1L9, C9JW74
      Related
      ENSP00000376884.1, ENST00000393187.5
      Conserved Domains (1) summary
      COG0596
      Location:38 → 312
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      130486175..130506465
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011516222.3 → XP_011514524.1  mesoderm-specific transcript homolog protein isoform X2

      UniProtKB/TrEMBL
      C9JW74
      Conserved Domains (1) summary
      COG0596
      Location:47 → 287
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    2. XM_017012218.3 → XP_016867707.1  mesoderm-specific transcript homolog protein isoform X1

      UniProtKB/TrEMBL
      A4D1L9, C9JW74
      Conserved Domains (1) summary
      COG0596
      Location:38 → 312
      MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      131799896..131820184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358254.1 → XP_054214229.1  mesoderm-specific transcript homolog protein isoform X2

    2. XM_054358253.1 → XP_054214228.1  mesoderm-specific transcript homolog protein isoform X1

      UniProtKB/TrEMBL
      A4D1L9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5EB52.2 GenPept UniProtKB/Swiss-Prot:Q5EB52

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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