MSX1 msh homeobox 1 [Homo sapiens] - Gene

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Summary

Official Symbol: MSX1provided by HGNC
Official Full Name: msh homeobox 1provided by HGNC
Primary source: HGNC:7391
See related: Ensembl:ENSG00000163132; HPRD:00866; 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; 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]

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Genomic context

Location :: 4p16.2

Sequence :: Chromosome: 4; NC_000004.11 (4861392..4865663)

See MSX1 in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In sequencing the MSX1 coding regions in 124 patients with oral cleft, five variants were found, including three known variants (A34G, G110G and P147Q) and two novel variants (M37L and G267A).
Title: Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population.
No significant association was found between NSOC and rs3821949 or rs12532 in MSX1 gene, whereas an association was observed between the P147Q variant and cleft lip with cleft palate in the case-control analysis.
Title: Association between MSX1 variants and oral clefts in Han Chinese in western China.
PIAS1 negatively regulates ubiquitination of Msx1 homeoprotein independent of its SUMO ligase activity.
Title: PIAS1 negatively regulates ubiquitination of Msx1 homeoprotein independent of its SUMO ligase activity.
results indicate that MSX1 may be associated with the invasion capacity of Wilms tumors
Title: Expression profiling reveals MSX1 and EphB2 expression correlates with the invasion capacity of Wilms tumors.
a cohort of 93 Swedish probands with non-syndromic, isolated oligodontia, mutations were identified in the EDARADD), AXIN2, MSX1, and PAX9 genes
Title: Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
An MSX1 allele identified in a single Japanese proband with unilateral cleft lip and palate; secondarily is in patients with mild tooth agenesis identified this same MSX1 variant, functioning as a mildly deleterious, moderately penetrant allele.
Title: Clinical and functional data implicate the Arg(151)Ser variant of MSX1 in familial hypodontia.
Msx-1, RANKL suppression and BMP-2 induction were consistent with bisphosphonate-associated osteopetrosis and impaired bone remodelling in BP- and aRANKL-induced ONJ. Msx-1 suppression suggested a possible explanation of exclusivity of ONJ in jaw bone.
Title: Msx-1 is suppressed in bisphosphonate-exposed jaw bone analysis of bone turnover-related cell signalling after bisphosphonate treatment.
Common variants located out of the DNA binding domain of the MSX1 gene can be related to tooth agenesis.
Title: PAX9 and MSX1 transcription factor genes in non-syndromic dental agenesis.
MSX1 and TGF-beta3 are direct targets of FOXE1.
Title: MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.
IVS1-2A > G was a novel splicing mutation identified in the MSX-1 gene and it might be responsible for nonsyndromic oligodontia in this family.
Title: [A novel mutation of MSX1 gene in a Chinese pedigree with oligodontia].

Submit: New GeneRIF Correction See all (50)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.

Tooth agenesis, selective, 1, with or without orofacial cleft

MIM: 106600

Products	Interactant	Other Gene	Source	Pubs	Description
NP_002439.1	NP_000537.2	TP53	BIND	PubMed	MSX1 interacts with TP53 (p53). This interaction was modeled on a demonstrated interaction between MSX1 from an unspecified species, and human p53.
P28360	Q08117	AES	HPRD	PubMed
P28360	Q92793	CREBBP	HPRD	PubMed
P28360	P50458	LHX2	HPRD	PubMed
P28360	P28360	MSX1	HPRD	PubMed
P28360	P35548	MSX2	HPRD	PubMed
P28360	P23760	PAX3	HPRD	PubMed
P28360	P55771	PAX9	HPRD	PubMed
P28360	O75925	PIAS1	HPRD	PubMed
P28360	P14859	POU2F1	HPRD	PubMed
P28360	P49802	RGS7	HPRD	PubMed
P28360	P08047	SP1	HPRD	PubMed
P28360	P63165	SUMO1	HPRD	PubMed
P28360	P61956	SUMO2	HPRD	PubMed
P28360	P21675	TAF1	HPRD	PubMed
P28360	P20226	TBP	HPRD	PubMed
P28360	Q04724	TLE1	HPRD	PubMed
P28360	Q04727	TLE4	HPRD	PubMed
P28360	P04637	TP53	HPRD	PubMed
BioGRID:110593	BioGRID:107777	CREBBP	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression
BioGRID:110593	BioGRID:108090	DLX2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110593	BioGRID:108093	DLX5	BioGRID	PubMed	Reconstituted Complex
BioGRID:110593	BioGRID:109464	HOXC8	BioGRID	PubMed	Reconstituted Complex
BioGRID:110593	BioGRID:114758	LHX2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110593	BioGRID:110593	MSX1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110593	BioGRID:110594	MSX2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110593	BioGRID:111111	PAX3	BioGRID	PubMed	Reconstituted Complex
BioGRID:110593	BioGRID:112550	SP1	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression
BioGRID:110593	BioGRID:112771	TBP	BioGRID	PubMed	Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
BioGRID:110593	BioGRID:112944	TLE2	BioGRID	PubMed	Two-hybrid
BioGRID:110593	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
p53 binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
BMP signaling pathway involved in heart development	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
apoptotic nuclear change	IDA Inferred from Direct Assay more info	PubMed
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
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	IEA Inferred from Electronic Annotation more info
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
forebrain development	IEA Inferred from Electronic Annotation more info
heart morphogenesis	IEA Inferred from Electronic Annotation more info
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
multicellular organismal development	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
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 apoptotic process	IDA Inferred from Direct Assay more info	PubMed
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

Component	Evidence Code	Pubs
nucleus	IDA Inferred from Direct Assay more info	PubMed
transcription factor complex	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: homeobox protein MSX-1

Names: homeobox protein MSX-1; homeobox 7; msh homeo box 1; homeobox protein Hox-7; msh homeobox homolog 1; msh homeobox 1-like protein

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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

NG_008121.1 RefSeqGene

Range

5001..9272

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC092437, AU117561, BC067353

Consensus CDS

CCDS3378.2

UniProtKB/Swiss-Prot

P28360

Related

ENSP00000372170, OTTHUMP00000115387, ENST00000382723, OTTHUMT00000206700

Conserved Domains (1) summary

cd00086
Location:173 – 231
Blast Score: 196

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

4861392..4865663

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

4797648..4801917

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC092437.4 (79750..84008)	None
genomic	AF426432.1	AAL17870.1
genomic	CH471131.2	EAW82420.1
genomic	M76731.1	AAA58665.1
genomic	M76732.1	AAA58665.1
mRNA	AK290636.1	BAF83325.1
mRNA	AU117561.1	None
mRNA	BC021285.2	AAH21285.4
mRNA	BC067353.1	AAH67353.1
mRNA	BU624994.1	None
mRNA	DB356637.1	None
mRNA	M97676.1	AAA52683.1