MESP1 mesoderm posterior bHLH transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MESP1provided by HGNC
Official Full Name: mesoderm posterior bHLH transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:29658
See related: Ensembl:ENSG00000166823 MIM:608689
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: bHLHc5
Expression: Biased expression in fat (RPKM 4.6), prostate (RPKM 4.1) and 4 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 15q26.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	15	NC_000015.10 (89734772..89751309, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90293098..90294540, complement)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study demonstrates that while leaving primitive streak markers unaffected, MESP1 expression is required for timely vascular progenitor specification. Thus, MESP1 expression is essential for the molecular features of early CM, EC and VSMC lineage specification.
Title: MESP1 knock-down in human iPSC attenuates early vascular progenitor cell differentiation after completed primitive streak specification.
The present study firstly provided experimental evidence supporting the concept that a MESP1 lossoffunction mutation may contribute to the development of double outlet right ventricle in humans, which presents a significant insight into the molecular pathogenesis of congenital heart disease.
Title: MESP1 loss‑of‑function mutation contributes to double outlet right ventricle.
results suggest that pathologic variants in MESP1 may contribute to the development of congenital heart disease (CHD) and that additional protein partners and downstream targets could likewise contribute to the wide range of causes for CHD
Title: MESP1 Mutations in Patients with Congenital Heart Defects.
The MESP1-NKX2-5 hESC reporter line allows us to identify molecular cues crucial for specification and expansion of human cardiac mesoderm and early progenitors and their differentiation to specific cardiovascular derivatives.
Title: Dual reporter MESP1 mCherry/w-NKX2-5 eGFP/w hESCs enable studying early human cardiac differentiation.
MESP1 SNPs are associated with congenital heart disease in patients and altered transcription in vitro.
Title: Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1.
Transcription factors ETS2 and MESP1 transdifferentiate human dermal fibroblasts into cardiac progenitors.
Title: Transcription factors ETS2 and MESP1 transdifferentiate human dermal fibroblasts into cardiac progenitors.
MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling
Title: MesP1 drives vertebrate cardiovascular differentiation through Dkk-1-mediated blockade of Wnt-signalling.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Homology

Homologs of the MESP1 gene: The MESP1 gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, and rat.
Orthologs from Annotation Pipeline: 97 organisms have orthologs with human gene MESP1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
RNA polymerase II proximal promoter sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein dimerization activity	IEA Inferred from Electronic Annotation more info
transcription regulatory region DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
Notch signaling pathway	IEA Inferred from Electronic Annotation more info
cardiac atrium formation	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac cell fate determination	ISS Inferred from Sequence or Structural Similarity more info
cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac vascular smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
cardiac ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
cardioblast anterior-lateral migration	ISS Inferred from Sequence or Structural Similarity more info
cardioblast migration to the midline involved in heart field formation	ISS Inferred from Sequence or Structural Similarity more info
embryonic heart tube morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
gastrulation	ISS Inferred from Sequence or Structural Similarity more info
gene expression	IEA Inferred from Electronic Annotation more info
growth involved in heart morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
heart looping	ISS Inferred from Sequence or Structural Similarity more info
heart morphogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
lateral mesoderm development	ISS Inferred from Sequence or Structural Similarity more info
mesoderm formation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
mesodermal cell migration	IEA Inferred from Electronic Annotation more info
negative regulation of endodermal cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of mesodermal cell fate specification	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of Notch signaling pathway involved in heart induction	IEA Inferred from Electronic Annotation more info
positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of hepatocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of striated muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription, DNA-templated	ISS Inferred from Sequence or Structural Similarity more info
secondary heart field specification	ISS Inferred from Sequence or Structural Similarity more info
signal transduction involved in regulation of gene expression	IEA Inferred from Electronic Annotation more info
sinoatrial node cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
sinus venosus morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
somitogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
nuclear chromatin	ISA Inferred from Sequence Alignment more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: mesoderm posterior protein 1

Names: class C basic helix-loop-helix protein 5; mesoderm posterior 1 homolog; mesoderm posterior basic helix-loop-helix transcription factor 1

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.