Version 5.4
Homo sapiens Gene: MSX1
Summary
InnateDB Gene IDBG-8568.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MSX1
Gene Name msh homeobox 1
Synonyms ECTD3; HOX7; HYD1; STHAG1
Species Homo sapiens
Ensembl Gene ENSG00000163132
Encoded Proteins
IDBP-8570
msh homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:4859666-4863936
Strand Forward strand
Band p16.2
Transcripts
ENST00000382723 ENSP00000372170
ENST00000468421
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 19 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 3 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000982 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0002039 p53 binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000902 cell morphogenesis
GO:0001701 in utero embryonic development
GO:0001837 epithelial to mesenchymal transition
GO:0003007 heart morphogenesis
GO:0003198 epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0006366 transcription from RNA polymerase II promoter
GO:0007507 heart development
GO:0007517 muscle organ development
GO:0008285 negative regulation of cell proliferation
GO:0009952 anterior/posterior pattern specification
GO:0010463 mesenchymal cell proliferation
GO:0021983 pituitary gland development
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030308 negative regulation of cell growth
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0030900 forebrain development
GO:0030901 midbrain development
GO:0034504 protein localization to nucleus
GO:0035115 embryonic forelimb morphogenesis
GO:0035116 embryonic hindlimb morphogenesis
GO:0035880 embryonic nail plate morphogenesis
GO:0042474 middle ear morphogenesis
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042476 odontogenesis
GO:0042481 regulation of odontogenesis
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048863 stem cell differentiation
GO:0050821 protein stabilization
GO:0051154 negative regulation of striated muscle cell differentiation
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060325 face morphogenesis
GO:0060349 bone morphogenesis
GO:0060536 cartilage morphogenesis
GO:0061180 mammary gland epithelium development
GO:0061312 BMP signaling pathway involved in heart development
GO:0071316 cellular response to nicotine
GO:0090427 activation of meiosis
GO:1902255 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2001055 positive regulation of mesenchymal cell apoptotic process
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000048450
View Gene Order
ENSBTAG00000010875
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.424414
RefSeq NM_002448
HUGO
OMIM
CCDS CCDS3378
HPRD 00866
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca