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Aliases for MESP1 Gene

Aliases for MESP1 Gene

  • Mesoderm Posterior BHLH Transcription Factor 1 2 3 5
  • Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 1 2 3
  • Class C Basic Helix-Loop-Helix Protein 5 3 4
  • BHLHc5 3 4
  • Mesoderm Posterior 1 Homolog (Mouse) 2
  • Mesoderm Posterior 1 Homolog 3
  • Mesoderm Posterior Protein 1 3

External Ids for MESP1 Gene

Previous GeneCards Identifiers for MESP1 Gene

  • GC15M087880
  • GC15M088022
  • GC15M088095
  • GC15M090291
  • GC15M066406

Summaries for MESP1 Gene

GeneCards Summary for MESP1 Gene

MESP1 (Mesoderm Posterior BHLH Transcription Factor 1) is a Protein Coding gene. Diseases associated with MESP1 include Tricuspid Atresia and Heart Septal Defect. Among its related pathways are Cardiac Progenitor Differentiation. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein dimerization activity. An important paralog of this gene is MESP2.

UniProtKB/Swiss-Prot for MESP1 Gene

  • Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity).

Additional gene information for MESP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MESP1 Gene

Genomics for MESP1 Gene

GeneHancer (GH) Regulatory Elements for MESP1 Gene

Promoters and enhancers for MESP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I089749 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 561.4 +0.2 155 2.6 HDGF PKNOX1 CLOCK ATF1 ARID4B NEUROD1 SIN3A ZBTB7B ZNF48 POLR2B MESP1 MRPL15P1 POLG LOC100631255 ENSG00000259314 WDR93 PEX11A FANCI GC15M089695
GH15I089780 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.1 -32.1 -32130 5.9 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A ZBTB7B YY1 ZNF766 ZNF207 MESP1 ZNF710 ENSG00000259314 POLG WDR93 MESP2 PEX11A CIB1 ANPEP
GH15I090056 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -309.9 -309910 9.6 HDGF PKNOX1 ARNT IRF4 ZNF766 E2F8 ZNF207 ZNF143 SP3 SP5 ZNF710 IQGAP1 POLG UNC45A LOC100631255 ENSG00000259314 IDH2 MESP1 ENSG00000228998 AP3S2
GH15I090157 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -412.2 -412232 12.2 CLOCK MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 UNC45A CIB1 ENSG00000259314 POLG RCCD1 SEMA4B LOC100631255 RPL36AP43 GDPGP1 NGRN
GH15I089846 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -98.8 -98777 6.5 BCOR ZNF146 JUN BACH1 ZMYM3 BATF IRF4 ZBTB40 FOSL1 ZNF316 MIR5094 AP3S2 MESP1 MESP2 ANPEP PLIN1 WDR93 ZNF710 CIB1 LOC105370965
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MESP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MESP1 gene promoter:

Genomic Locations for MESP1 Gene

Genomic Locations for MESP1 Gene
chr15:89,748,661-89,751,310
(GRCh38/hg38)
Size:
2,650 bases
Orientation:
Minus strand
chr15:90,291,892-90,294,541
(GRCh37/hg19)

Genomic View for MESP1 Gene

Genes around MESP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MESP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MESP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MESP1 Gene

Proteins for MESP1 Gene

  • Protein details for MESP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRJ9-MESP1_HUMAN
    Recommended name:
    Mesoderm posterior protein 1
    Protein Accession:
    Q9BRJ9
    Secondary Accessions:
    • Q9NSF1
    • Q9NSF2

    Protein attributes for MESP1 Gene

    Size:
    268 amino acids
    Molecular mass:
    28501 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The N- and C-terminal domains are separated by a 2-repeat G-Q region.

neXtProt entry for MESP1 Gene

Post-translational modifications for MESP1 Gene

No Post-translational modifications

Other Protein References for MESP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MESP1 Gene

Domains & Families for MESP1 Gene

Gene Families for MESP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MESP1 Gene

Suggested Antigen Peptide Sequences for MESP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MESP1: view

No data available for UniProtKB/Swiss-Prot for MESP1 Gene

Function for MESP1 Gene

Molecular function for MESP1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity).

Phenotypes From GWAS Catalog for MESP1 Gene

Gene Ontology (GO) - Molecular Function for MESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA,IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,IDA 18297060
GO:0035326 enhancer binding IEA --
genes like me logo Genes that share ontologies with MESP1: view
genes like me logo Genes that share phenotypes with MESP1: view

Animal Models for MESP1 Gene

MGI Knock Outs for MESP1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MESP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MESP1 Gene

Localization for MESP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MESP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MESP1 gene
Compartment Confidence
nucleus 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IBA 18297060
genes like me logo Genes that share ontologies with MESP1: view

Pathways & Interactions for MESP1 Gene

genes like me logo Genes that share pathways with MESP1: view

Pathways by source for MESP1 Gene

1 BioSystems pathway for MESP1 Gene

Gene Ontology (GO) - Biological Process for MESP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001707 mesoderm formation IBA --
GO:0001756 somitogenesis IBA --
GO:0001947 heart looping ISS,IEA --
GO:0003007 heart morphogenesis IEA --
GO:0003139 secondary heart field specification ISS,IEA --
genes like me logo Genes that share ontologies with MESP1: view

No data available for SIGNOR curated interactions for MESP1 Gene

Drugs & Compounds for MESP1 Gene

No Compound Related Data Available

Transcripts for MESP1 Gene

mRNA/cDNA for MESP1 Gene

Unigene Clusters for MESP1 Gene

Mesoderm posterior 1 homolog (mouse):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MESP1

Alternative Splicing Database (ASD) splice patterns (SP) for MESP1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b
SP1:
SP2: -

Relevant External Links for MESP1 Gene

GeneLoc Exon Structure for
MESP1
ECgene alternative splicing isoforms for
MESP1

Expression for MESP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MESP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MESP1 Gene

This gene is overexpressed in Prostate (x4.7).

Protein differential expression in normal tissues from HIPED for MESP1 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MESP1 Gene



Protein tissue co-expression partners for MESP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MESP1 Gene:

MESP1

SOURCE GeneReport for Unigene cluster for MESP1 Gene:

Hs.447531

Evidence on tissue expression from TISSUES for MESP1 Gene

  • Lung(4)
  • Heart(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with MESP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MESP1 Gene

Orthologs for MESP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MESP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MESP1 33 34
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia MESP1 33 34
  • 82.42 (n)
mouse
(Mus musculus)
Mammalia Mesp1 33 16 34
  • 74.55 (n)
rat
(Rattus norvegicus)
Mammalia Mesp1 33
  • 71.87 (n)
oppossum
(Monodelphis domestica)
Mammalia MESP1 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves MESP2 34
  • 28 (a)
OneToMany
-- 34
  • 26 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MESP1 34
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mespbb 34
  • 30 (a)
ManyToMany
mespba 34
  • 28 (a)
ManyToMany
BX572619.4 34
  • 26 (a)
ManyToMany
mespaa 34
  • 26 (a)
ManyToMany
mespab 34
  • 25 (a)
ManyToMany
Species where no ortholog for MESP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MESP1 Gene

ENSEMBL:
Gene Tree for MESP1 (if available)
TreeFam:
Gene Tree for MESP1 (if available)

Paralogs for MESP1 Gene

Paralogs for MESP1 Gene

(1) SIMAP similar genes for MESP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MESP1: view

Variants for MESP1 Gene

Sequence variations from dbSNP and Humsavar for MESP1 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000226414 -- 89,750,937(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000489282 -- 89,736,682(-) C/G genic_downstream_transcript_variant, intron_variant
rs1000898542 -- 89,742,076(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000903175 -- 89,737,896(-) C/A genic_downstream_transcript_variant, intron_variant
rs1001057463 -- 89,743,720(-) A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MESP1 Gene

Variant ID Type Subtype PubMed ID
nsv952025 CNV deletion 24416366
nsv570388 CNV loss 21841781
nsv1046117 CNV gain 25217958

Variation tolerance for MESP1 Gene

Gene Damage Index Score: 9.38; 88.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MESP1 Gene

Human Gene Mutation Database (HGMD)
MESP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MESP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MESP1 Gene

Disorders for MESP1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MESP1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
tricuspid atresia
  • congenital agenesis of the tricuspid valve
heart septal defect
  • cardiac septal defects
conotruncal heart malformations
  • cthm
- elite association - COSMIC cancer census association via MalaCards
Search MESP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MESP1

genes like me logo Genes that share disorders with MESP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MESP1 Gene

Publications for MESP1 Gene

  1. Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development. (PMID: 11578861) Haraguchi S … Saga Y (Mechanisms of development 2001) 2 3 22 58
  2. MesP1: a novel basic helix-loop-helix protein expressed in the nascent mesodermal cells during mouse gastrulation. (PMID: 8787751) Saga Y … Taketo MM (Development (Cambridge, England) 1996) 2 3 58
  3. MESP1 Mutations in Patients with Congenital Heart Defects. (PMID: 26694203) Werner P … Goldmuntz E (Human mutation 2016) 3 58
  4. Dual reporter MESP1 mCherry/w-NKX2-5 eGFP/w hESCs enable studying early human cardiac differentiation. (PMID: 25187301) Den Hartogh SC … Passier R (Stem cells (Dayton, Ohio) 2015) 3 58
  5. Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1. (PMID: 24056064) Lahm H … Krane M (European journal of medical genetics 2013) 3 58

Products for MESP1 Gene

Sources for MESP1 Gene

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