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

    Gene ID: 55897, updated on 27-Nov-2024

    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 located in chromatin. Predicted to be active in nucleus. Implicated in myocardial infarction. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in fat (RPKM 4.6), prostate (RPKM 4.1) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See MESP1 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89732446..89751249, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (87488329..87507126, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (90293106..90294480, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene peroxisomal biogenesis factor 11 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10054 Neighboring gene ribosomal protein L36a pseudogene 43 Neighboring gene WD repeat domain 93 Neighboring gene RNA, U6 small nuclear 132, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6804 Neighboring gene mitochondrial ribosomal protein L15 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:90310867-90311584 Neighboring gene uncharacterized LOC124903550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6806 Neighboring gene mesoderm posterior bHLH transcription factor 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10676

    Gene Ontology Provided by GOA

    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 induction 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
     
    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
     
    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 canonical Wnt signaling pathway 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 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
     
    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
     
    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
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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)

    1. NM_018670.4NP_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, Q9NSF1, Q9NSF2
      Related
      ENSP00000300057.4, ENST00000300057.5
      Conserved Domains (1) summary
      cd18938
      Location:83147
      bHLH_TS_Mesp; basic helix-loop-helix (bHLH) domain found in the mesoderm posterior protein (Mesp) family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89732446..89751249 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007064473.1 RNA Sequence

    2. XR_001751352.2 RNA Sequence

    3. XR_001751350.2 RNA Sequence

    4. XR_001751351.2 RNA Sequence

    5. XR_001751354.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      87488329..87507126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488987.1 RNA Sequence

    2. XR_008488990.1 RNA Sequence

    3. XR_008488989.1 RNA Sequence

    4. XR_008488986.1 RNA Sequence

    5. XR_008488988.1 RNA Sequence

    6. XR_008488991.1 RNA Sequence