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Aliases for MSX1 Gene

Aliases for MSX1 Gene

  • Msh Homeobox 1 2 3
  • HOX7 3 4 6
  • Msh Homeobox 1-Like Protein 3 4
  • Homeobox Protein Hox-7 3 4
  • STHAG1 3 6
  • ECTD3 3 6
  • HYD1 3 6
  • Msh (Drosophila) Homeo Box Homolog 1 (Formerly Homeo Box 7) 2
  • Msh Homeobox Homolog 1 (Drosophila) 2
  • Homeobox Protein MSX-1 3
  • Msh Homeobox Homolog 1 3
  • Msh Homeo Box 1 3
  • Homeobox 7 3
  • OFC5 6

External Ids for MSX1 Gene

Previous Symbols for MSX1 Gene

  • HOX7

Summaries for MSX1 Gene

Entrez Gene Summary for MSX1 Gene

  • 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]

GeneCards Summary for MSX1 Gene

MSX1 (Msh Homeobox 1) is a Protein Coding gene. Diseases associated with MSX1 include ectodermal dysplasia 3, witkop type and orofacial cleft 5. Among its related pathways are Neural Crest Differentiation and Wnt / Hedgehog / Notch. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and p53 binding. An important paralog of this gene is DLX5.

UniProtKB/Swiss-Prot for MSX1 Gene

  • Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.

Gene Wiki entry for MSX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MSX1 Gene

Genomics for MSX1 Gene

Genomic Location for MSX1 Gene

Start:
4,859,665 bp from pter
End:
4,863,936 bp from pter
Size:
4,272 bases
Orientation:
Plus strand

Genomic View for MSX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MSX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MSX1 Gene

Regulatory Elements for MSX1 Gene

Proteins for MSX1 Gene

  • Protein details for MSX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28360-MSX1_HUMAN
    Recommended name:
    Homeobox protein MSX-1
    Protein Accession:
    P28360
    Secondary Accessions:
    • A0SZU5
    • A8K3M1
    • Q96NY4

    Protein attributes for MSX1 Gene

    Size:
    303 amino acids
    Molecular mass:
    31496 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA52683.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA58665.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH67353.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAL17870.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=ABK81117.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF83325.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for MSX1 Gene

Proteomics data for MSX1 Gene at MOPED

Post-translational modifications for MSX1 Gene

Other Protein References for MSX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MSX1 Gene

Domains for MSX1 Gene

Gene Families for MSX1 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

UniProtKB/Swiss-Prot:

MSX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • P28360
Family:
  • Belongs to the Msh homeobox family.:
    • P28360
genes like me logo Genes that share domains with MSX1: view

Function for MSX1 Gene

Molecular function for MSX1 Gene

GENATLAS Biochemistry: Drosophila,muscle segment (msh) homolog 1,homeo domain encoding gene,inhibiting MYOD1 expression,highly expressed in dental mesenchyme during critical bud stage,involved in epithelial-mesenchymal signaling in many organs,and in the pathogenesis of cleft lip and palate,interacting with MSX2 in mouse limb bud patterning
UniProtKB/Swiss-Prot Function: Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.

Gene Ontology (GO) - Molecular Function for MSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity IEA --
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0002039 p53 binding IPI 15705871
genes like me logo Genes that share ontologies with MSX1: view
genes like me logo Genes that share phenotypes with MSX1: view

Animal Models for MSX1 Gene

MGI Knock Outs for MSX1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MSX1 Gene

Localization for MSX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MSX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MSX1 Gene COMPARTMENTS Subcellular localization image for MSX1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15705871
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with MSX1: view

Pathways for MSX1 Gene

genes like me logo Genes that share pathways with MSX1: view

Pathways by source for MSX1 Gene

2 Cell Signaling Technology pathways for MSX1 Gene
1 BioSystems pathway for MSX1 Gene
1 KEGG pathway for MSX1 Gene

Gene Ontology (GO) - Biological Process for MSX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0000902 cell morphogenesis IDA 15705871
GO:0001701 in utero embryonic development IEA --
GO:0001837 epithelial to mesenchymal transition --
GO:0003007 heart morphogenesis --
genes like me logo Genes that share ontologies with MSX1: view

Compounds for MSX1 Gene

(1) Novoseek inferred chemical compound relationships for MSX1 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 12.6 1
genes like me logo Genes that share compounds with MSX1: view

Transcripts for MSX1 Gene

mRNA/cDNA for MSX1 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(72) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MSX1 Gene

Msh homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MSX1 Gene

No ASD Table

Relevant External Links for MSX1 Gene

GeneLoc Exon Structure for
MSX1
ECgene alternative splicing isoforms for
MSX1

Expression for MSX1 Gene

mRNA expression in normal human tissues for MSX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MSX1 Gene

This gene is overexpressed in Cervix - Endocervix (7.7) and Cervix - Ectocervix (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MSX1 Gene

SOURCE GeneReport for Unigene cluster for MSX1 Gene Hs.424414

mRNA Expression by UniProt/SwissProt for MSX1 Gene

P28360-MSX1_HUMAN
Tissue specificity: Expressed in the developing nail bed mesenchyme.
genes like me logo Genes that share expressions with MSX1: view

Orthologs for MSX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MSX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MSX1 36
  • 99.67 (n)
  • 100 (a)
MSX1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MSX1 36
  • 90.68 (n)
  • 93.6 (a)
MSX1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MSX1 36
  • 89.55 (n)
  • 94.07 (a)
MSX1 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Msx1 36
  • 88.12 (n)
  • 93.73 (a)
Msx1 16
Msx1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MSX1 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MSX1 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Msx1 36
  • 87.77 (n)
  • 93.6 (a)
chicken
(Gallus gallus)
Aves GHOX-7 37
  • 81 (a)
OneToOne
MSX1 36
  • 78.17 (n)
  • 80.28 (a)
lizard
(Anolis carolinensis)
Reptilia MSX1 37
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16449 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394692 36
msx1 36
  • 68.73 (n)
  • 72.26 (a)
zebrafish
(Danio rerio)
Actinopterygii msxe 36
  • 71.33 (n)
  • 78 (a)
msxe 37
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dr 37
  • 22 (a)
OneToMany
Dr 38
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea vab-15 37
  • 39 (a)
OneToMany
vab-15 38
  • 67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
OneToMany
Species with no ortholog for MSX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for MSX1 Gene

ENSEMBL:
Gene Tree for MSX1 (if available)
TreeFam:
Gene Tree for MSX1 (if available)

Paralogs for MSX1 Gene

genes like me logo Genes that share paralogs with MSX1: view

Variants for MSX1 Gene

Sequence variations from dbSNP and Humsavar for MSX1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1095 -- 4,863,211(+) ACGTG(C/T)TCCCC utr-variant-3-prime
rs4075 -- 4,862,299(+) TTTCT(G/T)CATGT intron-variant
rs8670 -- 4,863,149(+) AGGGT(C/T)CCAGG utr-variant-3-prime
rs12532 -- 4,863,419(+) ATCTA(A/G)GGTCC utr-variant-3-prime
rs1042484 -- 4,862,654(-) AGCAT(C/T)GGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MSX1 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347

Relevant External Links for MSX1 Gene

HapMap Linkage Disequilibrium report
MSX1
Human Gene Mutation Database (HGMD)
MSX1

Disorders for MSX1 Gene

(3) OMIM Diseases for MSX1 Gene (142983)

UniProtKB/Swiss-Prot

MSX1_HUMAN
  • Tooth agenesis selective 1 (STHAG1) [MIM:106600]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients. {ECO:0000269 PubMed:12097313, ECO:0000269 PubMed:8696335}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.
  • Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected. {ECO:0000269 PubMed:11369996}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:12807959}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for MSX1 Gene

Disease -log(P) Hits PubMed IDs
tooth agenesis, selective 94.5 4
hypodontia 87.8 28
cleft palate 72.1 8
cleft lip 69 18
parkinson disease 27.6 2

Relevant External Links for MSX1

Genetic Association Database (GAD)
MSX1
Human Genome Epidemiology (HuGE) Navigator
MSX1
genes like me logo Genes that share disorders with MSX1: view

Publications for MSX1 Gene

  1. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. (PMID: 8696335) Vastardis H. … Seidman C.E. (Nat. Genet. 1996) 3 4 23
  2. A nonsense mutation in MSX1 causes Witkop syndrome. (PMID: 11369996) Jumlongras D. … Olsen B.R. (Am. J. Hum. Genet. 2001) 3 4 23
  3. Testing candidate genes for non-syndromic oral clefts using a case-parent trio design. (PMID: 11754469) Beaty T.H. … McIntosh I. (Genet. Epidemiol. 2002) 3 23 49
  4. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. (PMID: 12807959) Jezewski P.A. … Murray J.C. (J. Med. Genet. 2003) 3 4 23
  5. MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. (PMID: 16868654) Tongkobpetch S. … Shotelersuk V. (J. Hum. Genet. 2006) 3 23 49

Products for MSX1 Gene

Sources for MSX1 Gene

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