Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MSX1 (msh homeobox 1)

Identity

Alias (NCBI)ECTD3
HOX7
HYD1
STHAG1
HGNC (Hugo) MSX1
HGNC Alias symbHYD1
OFC5
HGNC Previous nameHOX7
HGNC Previous namemsh (Drosophila) homeo box homolog 1 (formerly homeo box 7)
 msh homeobox homolog 1 (Drosophila)
LocusID (NCBI) 4487
Atlas_Id 51797
Location 4p16.2  [Link to chromosome band 4p16]
Location_base_pair Starts at 4859665 and ends at 4863933 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MSX1 (4p16.2)::MSX1 (4p16.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

 

Nomenclature
HGNC (Hugo)MSX1   7391
Cards
Entrez_Gene (NCBI)MSX1    msh homeobox 1
AliasesECTD3; HOX7; HYD1; STHAG1
GeneCards (Weizmann)MSX1
Ensembl hg19 (Hinxton)ENSG00000163132 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163132 [Gene_View]  ENSG00000163132 [Sequence]  chr4:4859665-4863933 [Contig_View]  MSX1 [Vega]
ICGC DataPortalENSG00000163132
TCGA cBioPortalMSX1
AceView (NCBI)MSX1
Genatlas (Paris)MSX1
SOURCE (Princeton)MSX1
Genetics Home Reference (NIH)MSX1
Genomic and cartography
GoldenPath hg38 (UCSC)MSX1  -     chr4:4859665-4863933 +  4p16.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MSX1  -     4p16.2   [Description]    (hg19-Feb_2009)
GoldenPathMSX1 - 4p16.2 [CytoView hg19]  MSX1 - 4p16.2 [CytoView hg38]
ImmunoBaseENSG00000163132
Genome Data Viewer NCBIMSX1 [Mapview hg19]  
OMIM106600   142983   189500   608874   
Gene and transcription
Genbank (Entrez)AK290636 AU117561 BC021285 BC067353 BU624994
RefSeq transcript (Entrez)NM_002448
Consensus coding sequences : CCDS (NCBI)MSX1
Gene ExpressionMSX1 [ NCBI-GEO ]   MSX1 [ EBI - ARRAY_EXPRESS ]   MSX1 [ SEEK ]   MSX1 [ MEM ]
Gene Expression Viewer (FireBrowse)MSX1 [ Firebrowse - Broad ]
GenevisibleExpression of MSX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4487
GTEX Portal (Tissue expression)MSX1
Human Protein AtlasENSG00000163132-MSX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28360   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28360  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28360
PhosPhoSitePlusP28360
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)Homeodomain (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)MSX1
SuperfamilyP28360
AlphaFold pdb e-kbP28360   
Human Protein Atlas [tissue]ENSG00000163132-MSX1 [tissue]
HPRD00866
Protein Interaction databases
DIP (DOE-UCLA)P28360
IntAct (EBI)P28360
BioGRIDMSX1
STRING (EMBL)MSX1
ZODIACMSX1
Ontologies - Pathways
QuickGOP28360
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  cell morphogenesis  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  cis-regulatory region sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  in utero embryonic development  p53 binding  cardiac conduction system development  epithelial to mesenchymal transition involved in endocardial cushion formation  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  muscle organ development  negative regulation of cell population proliferation  anterior/posterior pattern specification  mesenchymal cell proliferation  pituitary gland development  signal transduction involved in regulation of gene expression  negative regulation of cell growth  positive regulation of BMP signaling pathway  midbrain development  protein localization to nucleus  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  embryonic nail plate morphogenesis  middle ear morphogenesis  odontogenesis of dentin-containing tooth  regulation of odontogenesis  negative regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of transcription by RNA polymerase II  embryonic morphogenesis  stem cell differentiation  protein stabilization  negative regulation of striated muscle cell differentiation  roof of mouth development  face morphogenesis  bone morphogenesis  cartilage morphogenesis  mammary gland epithelium development  BMP signaling pathway involved in heart development  cellular response to nicotine  activation of meiosis  positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator  sequence-specific double-stranded DNA binding  negative regulation of transcription regulatory region DNA binding  positive regulation of mesenchymal cell apoptotic process  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  cell morphogenesis  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  cis-regulatory region sequence-specific DNA binding  DNA-binding transcription repressor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  in utero embryonic development  p53 binding  cardiac conduction system development  epithelial to mesenchymal transition involved in endocardial cushion formation  protein binding  nucleus  nucleus  nucleoplasm  regulation of transcription by RNA polymerase II  muscle organ development  negative regulation of cell population proliferation  anterior/posterior pattern specification  mesenchymal cell proliferation  pituitary gland development  signal transduction involved in regulation of gene expression  negative regulation of cell growth  positive regulation of BMP signaling pathway  midbrain development  protein localization to nucleus  embryonic forelimb morphogenesis  embryonic hindlimb morphogenesis  embryonic nail plate morphogenesis  middle ear morphogenesis  odontogenesis of dentin-containing tooth  regulation of odontogenesis  negative regulation of apoptotic process  positive regulation of DNA damage response, signal transduction by p53 class mediator  positive regulation of transcription by RNA polymerase II  embryonic morphogenesis  stem cell differentiation  protein stabilization  negative regulation of striated muscle cell differentiation  roof of mouth development  face morphogenesis  bone morphogenesis  cartilage morphogenesis  mammary gland epithelium development  BMP signaling pathway involved in heart development  cellular response to nicotine  activation of meiosis  positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator  sequence-specific double-stranded DNA binding  negative regulation of transcription regulatory region DNA binding  positive regulation of mesenchymal cell apoptotic process  
Pathways : KEGGHTLV-I infection   
NDEx NetworkMSX1
Atlas of Cancer Signalling NetworkMSX1
Wikipedia pathwaysMSX1
Orthology - Evolution
OrthoDB4487
GeneTree (enSembl)ENSG00000163132
Phylogenetic Trees/Animal Genes : TreeFamMSX1
Homologs : HomoloGeneMSX1
Homology/Alignments : Family Browser (UCSC)MSX1
Gene fusions - Rearrangements
Fusion : QuiverMSX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMSX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MSX1
dbVarMSX1
ClinVarMSX1
MonarchMSX1
1000_GenomesMSX1 
Exome Variant ServerMSX1
GNOMAD BrowserENSG00000163132
Varsome BrowserMSX1
ACMGMSX1 variants
VarityP28360
Genomic Variants (DGV)MSX1 [DGVbeta]
DECIPHERMSX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMSX1 
Mutations
ICGC Data PortalMSX1 
TCGA Data PortalMSX1 
Broad Tumor PortalMSX1
OASIS PortalMSX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMSX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMSX1
Mutations and Diseases : HGMDMSX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMSX1
DgiDB (Drug Gene Interaction Database)MSX1
DoCM (Curated mutations)MSX1
CIViC (Clinical Interpretations of Variants in Cancer)MSX1
Cancer3DMSX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM106600    142983    189500    608874   
Orphanet2102    14371   
DisGeNETMSX1
MedgenMSX1
Genetic Testing Registry MSX1
NextProtP28360 [Medical]
GENETestsMSX1
Target ValidationMSX1
Huge Navigator MSX1 [HugePedia]
ClinGenMSX1 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeMSX1
Protein Interactions : CTDMSX1
Pharm GKB GenePA31196
PharosP28360
Clinical trialMSX1
Miscellaneous
canSAR (ICR)MSX1
HarmonizomeMSX1
ARCHS4MSX1
DataMed IndexMSX1
Probes
Litterature
PubMed156 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMSX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:23:26 CET 2022
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