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MEST mesoderm specific transcript [ Homo sapiens (human) ]

Gene ID: 4232, updated on 11-Apr-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
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Genomic context

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Location:
7q32.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (130486175..130506465)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (131799896..131820184)
105.20220307 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
  • 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. Hypermethylation of Mest promoter causes aberrant Wnt signaling in patients with Alzheimer's disease. Prasad R, et al. Sci Rep, 2021 Oct 8. PMID 34625606, Free PMC Article
  2. MEST promotes lung cancer invasion and metastasis by interacting with VCP to activate NF-κB signaling. Wang Y, et al. J Exp Clin Cancer Res, 2021 Sep 24. PMID 34560900, Free PMC Article
  3. The effect of folic acid deficiency on Mest/Peg1 in neural tube defects. Chang S, et al. Int J Neurosci, 2021 May. PMID 32241207
  4. 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
  5. Structural Analysis of G-Quadruplex Formation at the Human MEST Promoter. Stevens AJ, et al. PLoS One, 2017. PMID 28052120, Free PMC Article

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. MiR-29c-3p represses gastric cancer development via modulating MEST.
    Title: MiR-29c-3p represses gastric cancer development via modulating MEST.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.
    Title: The sperm epigenome does not display recurrent epimutations in patients with severely impaired spermatogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (43)

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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