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; AllianceGenome:HGNC:29658
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
Summary: Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in fat (RPKM 4.6), prostate (RPKM 4.1) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89732446..89751249, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87505752..87507126, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90293106..90294480, 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?

we demonstrate that upregulation of MESP1, a key tumor-promoting alteration, functions to create tumor dependency on an inbuilt lineage-survival process. MESP1, being the nodal point of this survival process, sustains the tumor dependency by transcriptionally activating key genes involved in tumor cell initiation, proliferation and progression including EMT
Title: Aberrant expression of embryonic mesendoderm factor MESP1 promotes tumorigenesis.
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.

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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: 139 organisms have orthologs with human gene MESP1
Orthologs

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in 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.

mRNA and Protein(s)

NM_018670.4 → NP_061140.1 mesoderm posterior protein 1

See identical proteins and their annotated locations for NP_061140.1

Status: VALIDATED

Source sequence(s)

AC079075

Consensus CDS

CCDS10355.1

UniProtKB/Swiss-Prot

Q9BRJ9, Q9NSF2

Related

ENSP00000300057.4, ENST00000300057.5

Conserved Domains (1) summary

cd18938
Location:83 → 147

bHLH_TS_Mesp; basic helix-loop-helix (bHLH) domain found in the mesoderm posterior protein (Mesp) family