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MSX1 msh homeobox 1 [ Homo sapiens (human) ]

Gene ID: 4487, updated on 31-Jul-2021

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
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Genomic context

See MSX1 in Genome Data Viewer
Location:
4p16.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (4859665..4863936)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (4861392..4865663)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11147 Neighboring gene long intergenic non-protein coding RNA 1396 Neighboring gene lactate dehydrogenase A pseudogene 1 Neighboring gene uncharacterized LOC101928306 Neighboring gene RN7SK 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
GeneReviews: Not available
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.
GeneReviews: Not available
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 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-01-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-12)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in BMP signaling pathway involved in heart development IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of meiosis IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cardiac conduction system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cartilage morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to nicotine IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryonic nail plate morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial to mesenchymal transition involved in endocardial cushion formation IEA
Inferred from Electronic Annotation
more info
 
involved_in face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in mammary gland epithelium development IEA
Inferred from Electronic Annotation
more info
 
involved_in mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in midbrain development IEA
Inferred from Electronic Annotation
more info
 
involved_in middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell growth IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of striated muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription regulatory region DNA binding IEA
Inferred from Electronic Annotation
more info
 
involved_in odontogenesis of dentin-containing tooth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of odontogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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.

Genomic

  1. NG_008121.1 RefSeqGene

    Range
    5001..9272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1342

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, ENST00000382723.5
    Conserved Domains (2) summary
    PTZ00449
    Location:105248
    PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
    pfam00046
    Location:175229
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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