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MSX1 msh homeobox 1 [ Homo sapiens (human) ]

Gene ID: 4487, updated on 5-Dec-2018

Summary

Official Symbol
MSX1provided by HGNC
Official Full Name
msh homeobox 1provided by HGNC
Primary source
HGNC:HGNC:7391
See related
Ensembl:ENSG00000163132 MIM:142983
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]
Expression
Biased expression in endometrium (RPKM 10.8), fat (RPKM 4.4) and 8 other tissues See more
Orthologs

Genomic context

See MSX1 in Genome Data Viewer
Location:
4p16.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by RNA polymerase II 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 
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 by RNA polymerase II 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
 
roof of mouth development 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
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, ENST00000382723.4
    Conserved Domains (2) summary
    pfam00046
    Location:175228
    Homeobox; Homeobox domain
    cl25751
    Location:105248
    DUF4045; Domain of unknown function (DUF4045)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

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