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    MSX1 msh homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 4487, updated on 22-Apr-2017
    Official Symbol
    MSX1provided by HGNC
    Official Full Name
    msh homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:7391
    See related
    Ensembl:ENSG00000163132 MIM:142983; Vega:OTTHUMG00000090335
    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
    HOX7; HYD1; ECTD3; STHAG1
    Summary
    This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    4p16.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (4859665..4863936)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4861392..4865663)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928279 Neighboring gene long intergenic non-protein coding RNA 1396 Neighboring gene lactate dehydrogenase A pseudogene 1 Neighboring gene uncharacterized LOC101928306 Neighboring gene RNA, 7SK small nuclear pseudogene 113

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome
    MedGen: C0406735 OMIM: 189500 GeneReviews: Not available
    Compare labs
    Orofacial cleft 5
    MedGen: C1837210 OMIM: 608874 GeneReviews: Not available
    Compare labs
    Selective tooth agenesis 1
    MedGen: C3489529 OMIM: 106600 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
    NHGRI GWA Catalog
    Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
    NHGRI GWA Catalog
    • Dopaminergic Neurogenesis, organism-specific biosystem (from WikiPathways)
      Dopaminergic Neurogenesis, organism-specific biosystemConverted to human from mouse: http://www.wikipathways.org/index.php/Pathway:WP1498
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
      Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    BMP signaling pathway involved in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    activation of meiosis IEA
    Inferred from Electronic Annotation
    more info
     
    anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cartilage morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic forelimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic nail plate morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    epithelial to mesenchymal transition involved in endocardial cushion formation IEA
    Inferred from Electronic Annotation
    more info
     
    face morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland epithelium development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    middle ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of striated muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription regulatory region DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    odontogenesis of dentin-containing tooth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    palate development IEA
    Inferred from Electronic Annotation
    more info
     
    pituitary gland development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of DNA damage response, signal transduction by p53 class mediator IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of mesenchymal cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of odontogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction involved in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    stem cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    homeobox protein MSX-1
    Names
    homeobox 7
    homeobox protein Hox-7
    msh homeo box 1
    msh homeobox 1-like protein
    msh homeobox homolog 1

    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_008121.1 RefSeqGene

      Range
      5001..9272
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002448.3NP_002439.2  homeobox protein MSX-1

      See identical proteins and their annotated locations for NP_002439.2

      Status: REVIEWED

      Source sequence(s)
      AC092437, AU117561, BC067353
      Consensus CDS
      CCDS3378.2
      UniProtKB/Swiss-Prot
      P28360
      Related
      ENSP00000372170.4, OTTHUMP00000115387, ENST00000382723.4, OTTHUMT00000206700
      Conserved Domains (1) summary
      pfam00046
      Location:175228
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      4859665..4863936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      4859330..4863591
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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