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MEST mesoderm specific transcript [ Homo sapiens (human) ]

Gene ID: 4232, updated on 14-Jun-2020

Summary

Official Symbol
MESTprovided by HGNC
Official Full Name
mesoderm specific transcriptprovided by HGNC
Primary source
HGNC:HGNC:7028
See related
Ensembl:ENSG00000106484 MIM:601029
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

Genomic context

See MEST in Genome Data Viewer
Location:
7q32.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (130486175..130506465)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130126016..130146138)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene centrosomal protein 41 Neighboring gene uncharacterized LOC105375505 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 RNA, 5S ribosomal pseudogene 246

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC8703, MGC111102, DKFZp686L18234

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
mesoderm development TAS
Traceable Author Statement
more info
PubMed 
regulation of lipid storage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

  1. NM_001253900.1NP_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/Swiss-Prot
    Q5EB52
    UniProtKB/TrEMBL
    B4DQW6
    Conserved Domains (2) summary
    pfam00561
    Location:58307
    Abhydrolase_1; alpha/beta hydrolase fold
    cl21494
    Location:56138
    Abhydrolase; alpha/beta hydrolases
  2. NM_001253901.1NP_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/Swiss-Prot
    Q5EB52
    Related
    ENSP00000408933.2, ENST00000416162.7
    Conserved Domains (1) summary
    COG0596
    Location:38278
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  3. NM_001253902.1NP_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/Swiss-Prot
    Q5EB52
    Related
    ENSP00000409505.2, ENST00000427521.6
    Conserved Domains (1) summary
    COG0596
    Location:38278
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  4. NM_002402.4NP_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
    Q5EB52
    UniProtKB/TrEMBL
    A0A024R768
    Related
    ENSP00000223215.4, ENST00000223215.10
    Conserved Domains (1) summary
    COG0596
    Location:47321
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  5. NM_177524.2NP_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/Swiss-Prot
    Q5EB52
    UniProtKB/TrEMBL
    A4D1L9
    Related
    ENSP00000342749.4, ENST00000341441.9
    Conserved Domains (1) summary
    COG0596
    Location:38312
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  6. NM_177525.2NP_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/Swiss-Prot
    Q5EB52
    UniProtKB/TrEMBL
    A4D1L9
    Related
    ENSP00000376884.1, ENST00000393187.5
    Conserved Domains (1) summary
    COG0596
    Location:38312
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024446764.1XP_024302532.1  mesoderm-specific transcript homolog protein isoform X1

    Conserved Domains (1) summary
    COG0596
    Location:38312
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  2. XM_024446765.1XP_024302533.1  mesoderm-specific transcript homolog protein isoform X3

    Conserved Domains (1) summary
    COG0596
    Location:38278
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  3. XM_011516222.2XP_011514524.1  mesoderm-specific transcript homolog protein isoform X2

    Conserved Domains (1) summary
    COG0596
    Location:47287
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
  4. XM_017012218.2XP_016867707.1  mesoderm-specific transcript homolog protein isoform X1

    UniProtKB/Swiss-Prot
    Q5EB52
    UniProtKB/TrEMBL
    A4D1L9
    Conserved Domains (1) summary
    COG0596
    Location:38312
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
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