MSX1 msh homeobox 1 [Homo sapiens (human)] - Gene

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: mouse all

Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Gene-gene interaction between MSX1 and TP63 may influence the risk of nonsyndromic cleft lip with or without cleft palate in Asian populations.
Title: Gene-gene interaction between MSX1 and TP63 in Asian case-parent trios with nonsyndromic cleft lip with or without cleft palate.
MSX1 exerts tumor-suppressive functions by inducing G1/S cell cycle arrest and apoptosis in breast tumorigenesis.
Title: Homeobox protein MSX1 inhibits the growth and metastasis of breast cancer cells and is frequently silenced by promoter methylation.
In male infants, there was no association between the mother's homozygous MSX1 p(CA) *4/*4 genotype and nsCL+/-P (RR, 0.98; 95% CI, 0.63-1.54), but this maternal genotype resulted in a doubling of risk for female infants (RR, 2.21; 95% CI, 1.13-4.34).
Title: Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe-EUROCRAN Study.
p19(INK4d) plays an active role during human tooth development along with MSX1 and MSX2
Title: Regulation of proliferation in developing human tooth germs by MSX homeodomain proteins and cyclin-dependent kinase inhibitor p19<sup>INK4d</sup>.
Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.
Title: Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.
Hypomethylation of CpG sites within the MSX1 gene is associated with resistant high-grade serous ovarian cancer at presentation and identifies expression of MSX1 as conferring platinum drug sensitivity.
Title: Epigenetic Regulation of the Homeobox Gene MSX1 Associates with Platinum-Resistant Disease in High-Grade Serous Epithelial Ovarian Cancer.
MSX1 homeobox protein accumulation is associated with the secretory phase in endometrium of fertile couples, and is widely disrupted in infertile patients. It is the first study to examine MSX1 protein localization in the human endometrium, and supported by genetic findings in mice, suggests that genes regulated by MSX1 are linked to the loss of epithelial cell polarity required for uterine receptivity during implantation
Title: Reduced homeobox protein MSX1 in human endometrial tissue is linked to infertility.
a strong correlation between observed phenotypes and the location in the MSX1 protein structure of the disease causing mutations (review)
Title: MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.
this study shows that MSX1 is an important component of RLR-mediated signaling and reveal mechanisms on innate immune responses against RNA viruses
Title: MSX1 Modulates RLR-Mediated Innate Antiviral Signaling by Facilitating Assembly of TBK1-Associated Complexes.
MSX1 and DCLK1 might be used in colorectal cancer detection or as target of cancer therapies.
Title: Identification of MSX1 and DCLK1 as mRNA Biomarkers for Colorectal Cancer Detection Through DNA Methylation Information.

Submit: New GeneRIF Correction See all GeneRIFs (98)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

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 NHGRI GWA CatalogPubMed
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Msx1 (e-PCR), detects polymorphism
- UniSTS:532515

SHGC4-464 (e-PCR)
- UniSTS:90449

G33875 (e-PCR)
- UniSTS:71783

G62104 (e-PCR)
- UniSTS:139140

D4S3135 (e-PCR)
- UniSTS:37074

Homology

Homologs of the MSX1 gene: The MSX1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 230 organisms have orthologs with human gene MSX1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enhancer binding	IEA Inferred from Electronic Annotation more info
p53 binding	IPI Inferred from Physical Interaction more info	PubMed

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

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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)

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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.