MSX1

Protein identityUniProt · HPA

UniProt accession

P28360

Gene

MSX1

Ensembl

ENSG00000163132

Chromosome

4

Canonical length

303 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

303 residues, UniProt reviewed canonical sequence.

>P28360|MSX1
     1  MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA KPKVSPSLLP
    61  FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP GSLGAPDAPS SPRPLGHFSV
   121  GGLLKLPEDA LVKAESPEKP ERTPWMQSPR FSPPPARRLS PPACTLRKHK TNRKPRTPFT
   181  TAQLLALERK FRQKQYLSIA ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM
   241  AAKPMLPPAA FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY
   301  HLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MSX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.67

Highest tissue expression

140 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MSX1.

Disease | AllUniProt

Conditions MSX1 is implicated in, by any mechanism.

• Tooth agenesis, selective, 1 (STHAG1) MIM:106600
• Ectodermal dysplasia 3, Witkop type (ECTD3) MIM:189500
• Non-syndromic orofacial cleft 5 (OFC5) MIM:608874

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 184 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypoplastic enamel-onycholysis-hypohidrosis syndrome
• Tooth agenesis, selective, 1
• MSX1-related disorder
• Orofacial cleft 5
• Oligodontia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.01

gnomAD pLI

0.17

gnomAD missense Z

0.28

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• activation of meiosis
• anterior/posterior pattern specification
• BMP signaling pathway
• bone morphogenesis
• cardiac conduction system development
• cartilage morphogenesis
• cell morphogenesis
• cell surface receptor signaling pathway involved in heart development
• cellular response to nicotine
• embryonic forelimb morphogenesis
• embryonic hindlimb morphogenesis
• embryonic morphogenesis
• embryonic nail plate morphogenesis
• epithelial to mesenchymal transition involved in endocardial cushion formation
• face morphogenesis
• in utero embryonic development
• inner ear development
• mammary gland epithelium development
• mesenchymal cell apoptotic process
• mesenchymal cell proliferation
• midbrain development
• middle ear morphogenesis
• muscle organ development
• negative regulation of apoptotic process
• negative regulation of cell growth
• negative regulation of cell population proliferation
• negative regulation of gene expression
• negative regulation of striated muscle cell differentiation
• nose development
• odontogenesis of dentin-containing tooth
• pituitary gland development
• positive regulation of BMP signaling pathway
• positive regulation of cell cycle
• positive regulation of DNA damage response, signal transduction by p53 class mediator
• positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator
• positive regulation of mesenchymal cell apoptotic process
• positive regulation of odontogenesis
• protein localization to nucleus
• protein stabilization
• regulation of odontogenesis
• regulation of transcription by RNA polymerase II
• roof of mouth development
• signal transduction involved in regulation of gene expression
• stem cell differentiation
• transcription by RNA polymerase II
• negative regulation of odontoblast differentiation

Molecular functions

• cis-regulatory region sequence-specific DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• p53 binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• nuclear periphery
• nucleoplasm
• nucleus
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Msh Homeobox Transcriptional Regulators
• Homeodomain

KeywordsUniProt

• Developmental protein
• DNA-binding
• Ectodermal dysplasia
• Homeobox
• Isopeptide bond
• Nucleus
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of MSX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• H1-5
• SP1
• TBP
• CREBBP