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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... See more...
Aliases for MSX1 Gene
Aliases for MSX1 Gene
External Ids for MSX1 Gene
- HGNC: 7391
- Entrez Gene: 4487
- Ensembl: ENSG00000163132
- OMIM: 142983
- UniProtKB: P28360
Previous HGNC Symbols for MSX1 Gene
- HOX7
Previous GeneCards Identifiers for MSX1 Gene
- GC04P004739
- GC04P004907
- GC04P004925
- GC04P004979
Summaries for MSX1 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]
GeneCards Summary for MSX1 Gene
MSX1 (Msh Homeobox 1) is a Protein Coding gene. Diseases associated with MSX1 include Witkop Syndrome and Orofacial Cleft 5. Among its related pathways are Neuroscience and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and p53 binding. An important paralog of this gene is MSX2.
UniProtKB/Swiss-Prot Summary for MSX1 Gene
-
Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.
Additional gene information for MSX1 Gene
- HGNC(7391)
- Entrez Gene(4487)
- Ensembl(ENSG00000163132)
- OMIM(142983)
- UniProtKB(P28360)
- Open Targets Platform(ENSG00000163132)
- Monarch Initiative
- Search for MSX1 at DataMed
- Search for MSX1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MSX1 Gene
Genomics for MSX1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MSX1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MSX1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MSX1
- Top Transcription factor binding sites by QIAGEN in the MSX1 gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- GATA-3
- GR-alpha
- p53
- SRF
- SRF (504 AA)
Genomic Locations for MSX1 Gene
Genomic Locations for MSX1 Gene
- chr4:4,859,665-4,863,936
- (GRCh38/hg38)
- Size:
- 4,272 bases
- Orientation:
- Plus strand
- chr4:4,861,392-4,865,663
- (GRCh37/hg19)
- Size:
- 4,272 bases
- Orientation:
- Plus strand
Genomic View for MSX1 Gene
Genes around MSX1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p16.2 by HGNC
- 4p16.2 by Entrez Gene
- 4p16.2 by Ensembl
MSX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MSX1 Gene
Proteins for MSX1 Gene
-
Protein details for MSX1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P28360-MSX1_HUMAN
- Recommended name:
- Homeobox protein MSX-1
- Protein Accession:
- P28360
- A0SZU5
- A8K3M1
- Q96NY4
Protein attributes for MSX1 Gene
- Size:
- 303 amino acids
- Molecular mass:
- 31496 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAA52683.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA58665.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH67353.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAL17870.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=ABK81117.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF83325.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for MSX1 Gene
Post-translational modifications for MSX1 Gene
- Sumoylated by PIAS1, desumoylated by SENP1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for MSX1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- HUABIO Anti-MSX1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for MSX1
- Novus Biologicals Antibodies for MSX1
-
Abcam antibodies for MSX1
- Invitrogen Antibodies for MSX1 (AFLGC-MSX1)
- antibodies-online: Show 24 available MSX1 Antibodies ranked by validation data
- Compare Top MSX1 Antibodies
-
Recommended
- 65 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 15 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for MSX1
- Sino Biological Antibodies for MSX1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for MSX1
- Origene Custom Protein Services for MSX1
-
Abcam proteins for MSX1
Assay Products
- antibodies-online: Show 6 available MSX1 Elisa Kits ranked by validation data
- Compare Top MSX1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for MSX1 Gene
Domains & Families for MSX1 Gene
Gene Families for MSX1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for MSX1 Gene
- InterPro:
- Blocks:
-
- Lambda and other repressor helix-turn-helix signature
- ProtoNet:
Suggested Antigen Peptide Sequences for MSX1 Gene
- GenScript: Design optimal peptide antigens:
-
- Homeobox protein MSX-1 (E9KXS6_HUMAN)
- Homeobox protein MSX-1 (E9KXS7_HUMAN)
- Homeobox protein MSX-1 (E9KXS8_HUMAN)
- Homeobox protein MSX-1 (E9KXS9_HUMAN)
- Homeobox protein MSX-1 (E9KXT0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P28360- Family:
-
- Belongs to the Msh homeobox family.
Function for MSX1 Gene
Molecular function for MSX1 Gene
- UniProtKB/Swiss-Prot Function:
- Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.
- GENATLAS Biochemistry:
- Drosophila,muscle segment (msh) homolog 1,homeo domain encoding gene,inhibiting MYOD1 expression,highly expressed in dental mesenchyme during critical bud stage,involved in epithelial-mesenchymal signaling in many organs,and in the pathogenesis of cleft lip and palate,interacting with MSX2 in mouse limb bud patterning
Phenotypes From GWAS Catalog for MSX1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA,IBA | 21873635 |
| GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
| GO:0000987 | proximal promoter sequence-specific DNA binding | IEA | -- |
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA | -- |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
Phenotypes for MSX1 Gene
- MGI mutant phenotypes for MSX1:
-
inferred from 6 alleles
- nervous system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for MSX1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased gamma-H2AX phosphorylation
- Decreased replication of vaccinia virus (VACV)
- Decreased focal adhesion (FA) abundance, increased peripheral FA formation
- Decreased cell migration
Animal Models for MSX1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MSX1 - Select products 50% OFF >
- * MSX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MSX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSX1
miRNA for MSX1 Gene
- miRTarBase miRNAs that target MSX1
-
- hsa-miR-1266-5p (MIRT736705)
- hsa-miR-1294 (MIRT737175)
- hsa-miR-211-3p (MIRT738936)
- hsa-miR-4270 (MIRT743580)
- hsa-miR-4302 (MIRT743869)
- hsa-miR-4316 (MIRT744000)
- hsa-miR-4441 (MIRT744547)
- hsa-miR-4518 (MIRT745778)
- hsa-miR-4519 (MIRT745789)
- hsa-miR-4680-5p (MIRT746916)
- hsa-miR-4738-3p (MIRT748020)
- hsa-miR-4746-3p (MIRT748211)
- hsa-miR-4747-5p (MIRT748253)
- hsa-miR-510-5p (MIRT749734)
- hsa-miR-5196-5p (MIRT750037)
- hsa-miR-583 (MIRT751529)
- hsa-miR-6081 (MIRT751768)
- hsa-miR-6499-3p (MIRT752810)
- hsa-miR-6754-5p (MIRT754722)
- hsa-miR-6804-5p (MIRT756435)
- hsa-miR-7854-3p (MIRT759926)
- hsa-miR-9500 (MIRT760893)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSX1
- Browse OriGene Inhibitory RNA Products For MSX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSX1
Clone Products
- Applied Biological Materials (abm): Clones for MSX1 - Select products 50% OFF >
- * MSX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MSX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSX1
Cell Line Products
-
Horizon Cell Lines for MSX1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MSX1 Gene
Localization for MSX1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MSX1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | ISA | -- |
| GO:0005634 | nucleus | IBA,IDA | 15705871 |
| GO:0005654 | nucleoplasm | IDA | -- |
Pathways & Interactions for MSX1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
| 2 | Wnt / Hedgehog / Notch | ||
| 3 | Human T-cell leukemia virus 1 infection | ||
| 4 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
| 5 | Dopaminergic Neurogenesis | ||
Pathways by source for MSX1 Gene
2 BioSystems pathways for MSX1 Gene
1 KEGG pathway for MSX1 Gene
1 R&D Systems pathway for MSX1 Gene
2 Cell Signaling Technology pathways for MSX1 Gene
Interacting Proteins for MSX1 Gene
Selected Interacting proteins:
P28360-MSX1_HUMAN
ENSP00000372170
for MSX1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MSX1
SIGNOR curated interactions for MSX1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000902 | cell morphogenesis | IDA | 15705871 |
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001837 | epithelial to mesenchymal transition | IEA | -- |
| GO:0003007 | heart morphogenesis | IEA | -- |
Drugs & Compounds for MSX1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| a-MSH, amide | Pharma | Melanocyte-stimulating hormones | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for MSX1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| a-MSH, amide | Melanocyte-stimulating hormones |
Transcripts for MSX1 Gene
mRNA/cDNA for MSX1 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000382723 1940 nts (view in UCSC)
- ENST00000468421 509 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MSX1 - Select products 50% OFF >
- * MSX1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MSX1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSX1
-
Santa Cruz Biotechnology (SCBT) CRISPR for MSX1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSX1
- Browse OriGene Inhibitory RNA Products For MSX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSX1
Clone Products
- Applied Biological Materials (abm): Clones for MSX1 - Select products 50% OFF >
- * MSX1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MSX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSX1
Relevant External Links for MSX1 Gene
- GeneLoc Exon Structure for
- MSX1
Expression for MSX1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
- Presumptive Suture Cells Rostral Sutures
- Intramembranous Preosteoblasts Membranous Facial Bones
- Prechondrocytic Mesenchymal Cells Vertebral Body
-
Neural Tube (Nervous System)
- Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
- Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
- Prosencephalon
- Primitive Spinal Cord
- Telencephalon
-
Head Mesenchyme (Muscoskeletal System)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Branchial Arch 2
- Cranial Neural Crest Cells Branchial Arch 1
- Branchial Arch 1
-
Neural Crest (Gastrulation Derivatives)
- Mesencephalic Neural Crest Cells Prechordal Mesenchyme
- Diencephalic Neural Crest Cells Prechordal Mesenchyme
- Cranial Neural Crest Cells Branchial Arch 2
- Cranial Neural Crest Cells Branchial Arch 1
- NGFR+ cells(Chan AA et. al. 2013)
-
Epithelial Cells
- Dental Placode Cells Dental Placode
- Limbal Basal Epithelial Cells Limbus Epithelium
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Fetal Cortex Cells Hair Shaft
-
Limb (Muscoskeletal System)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Progress Zone Cells Limb Bud
- Limb Bud Mesenchyme Cells Limb Bud
- Limb Muscle Progenitor Cells Forelimb Myotome
- Autopod
-
Dermis (Integumentary System)
- Dermal Progenitor Cells Thoracic Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Somatopleure
- Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Lumbar Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Cervical Dorsomedial Dermomyotome Lip
-
Cartilage (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Dorsal Neural Arch
- Prechondrocytic Mesenchymal Cells Spinous Process Of Vertebrae
- Prechondrocytic Mesenchymal Cells Annulus Fibrosus
- Prechondrocytic Mesenchymal Cells Vertebral Body
- Progress Zone Cells Limb Bud
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
- Dental Papilla Cells Dental Papilla
- Odontoblasts Dentin
- Dental Follicle Cells Dental Papilla
- Dentin
-
Brain (Nervous System)
- Meso-diencephalic Dopaminergic Precursor Cells Diencephalic Ventricular Zone
- Meso-diencephalic Dopaminergic Precursor Cells Mesencephalic Ventricular Zone
- Dopaminergic-like neurons(Swistowski A et. al. 2010)
- CPEC(Watanabe M et. al. 2012)
- Dopaminergic neuron-like cells(Vazin T et. al. 2009)
-
Somite (Muscoskeletal System)
- Dermal Progenitor Cells Thoracic Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Sacral Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Lumbar Dorsomedial Dermomyotome Lip
- Dermal Progenitor Cells Cervical Dorsomedial Dermomyotome Lip
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
- Atrioventricular Canal Cells Atrioventricular Canal
- Cushion Mesenchymal Cells Endocardium
-
Neural Ectoderm (Nervous System)
- Neural Plate Border Cells Neural Plate Border
- Neural Plate
- Neural ectoderm cells(Fasano CA et. al. 2010)
-
Ectoderm (Gastrulation Derivatives)
- Apical Ectodermal Ridge Cells Limb Ectoderm
- Surface Ectoderm Cells Surface Ectoderm
- Rathke�s Pouch
-
Hair (Integumentary System)
- Fetal Hair Shaft Cuticle Cells Hair Shaft
- Fetal Medulla Cells Hair Shaft
- Fetal Cortex Cells Hair Shaft
- Neurons
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Surface Ectoderm
- Dopaminergic Neurons (Nervous System)
-
Eye (Sensory Organs)
- Limbal Basal Epithelial Cells Limbus Epithelium
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Dermal Progenitor Cells Somatopleure
-
Endoderm (Gastrulation Derivatives)
- Definitive Endoderm Cells Definitive Endoderm
-
Epidermis (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
-
Mesoderm (Gastrulation Derivatives)
- Limb Bud Mesenchyme Cells Limb Bud
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Gut Tube (Gastrointestinal Tract)
- NULL (Nervous System)
-
Uterus (Reproductive System)
-
Fibroblasts (Uncategorized)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for MSX1 Gene
This gene is overexpressed in Cervix - Endocervix (x7.7) and Cervix - Ectocervix (x4.8).
This gene is overexpressed in Breast (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MSX1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MSX1
SOURCE GeneReport for Unigene cluster for MSX1 Gene:
Hs.424414mRNA Expression by UniProt/SwissProt for MSX1 Gene:
P28360-MSX1_HUMAN
Tissue specificity:
Expressed in the developing nail bed mesenchyme.
Evidence on tissue expression from TISSUES for MSX1 Gene
- Blood(4.4)
- Nervous system(2.9)
- Skin(2.6)
- Muscle(2.5)
- Bone(2.5)
- Heart(2.3)
- Kidney(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for MSX1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- digestive
- integumentary
- skeleton
Regions:
Head and neck:
- chin
- face
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- hair
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for MSX1
-
OriGene qPCR primer pairs and template standards for MSX1
Gene Expression Assay Products
Orthologs for MSX1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MSX1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Msx1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Msx1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MSX1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MSX1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GHOX-7 31 |
|
OneToOne | |
| MSX1 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | MSX1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | msx1 30 |
|
||
| LOC394692 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16449 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | msxe 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Dr 31 32 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | vab-15 31 32 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for MSX1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for MSX1 Gene
- ENSEMBL:
- Gene Tree for MSX1 (if available)
- TreeFam:
- Gene Tree for MSX1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MSX1: view image
Paralogs for MSX1 Gene
(14) SIMAP similar genes for MSX1 Gene using alignment to 95 proteins:
- MSX1_HUMAN
- E9KXS6_HUMAN
- E9KXS7_HUMAN
- E9KXS8_HUMAN
- E9KXS9_HUMAN
- E9KXT0_HUMAN
- E9KXT1_HUMAN
- E9KXT2_HUMAN
- E9KXT3_HUMAN
- E9KXT4_HUMAN
- E9KXT5_HUMAN
- E9KXT6_HUMAN
- E9KXT7_HUMAN
- E9KXT8_HUMAN
- E9KXT9_HUMAN
- E9KXU0_HUMAN
- E9KXU1_HUMAN
- E9KXU2_HUMAN
- E9KXU3_HUMAN
- E9KXU4_HUMAN
- E9KXU5_HUMAN
- E9KXU6_HUMAN
- E9KXU7_HUMAN
- E9KXU8_HUMAN
- E9KXU9_HUMAN
- E9KXV0_HUMAN
- E9KXV1_HUMAN
- E9KXV2_HUMAN
- E9KXV3_HUMAN
- E9KXV4_HUMAN
- E9KXV5_HUMAN
- E9KXV6_HUMAN
- E9KXV7_HUMAN
- E9KXV8_HUMAN
- E9KXV9_HUMAN
- E9KXW0_HUMAN
- E9KXW1_HUMAN
- E9KXW2_HUMAN
- E9KXW3_HUMAN
- E9KXW4_HUMAN
- E9KXW5_HUMAN
- E9KXW6_HUMAN
- E9KXW7_HUMAN
- E9KXW8_HUMAN
- E9KXW9_HUMAN
- E9KXX0_HUMAN
- E9KXX1_HUMAN
- E9KXX2_HUMAN
- E9KXX3_HUMAN
- E9KXX4_HUMAN
- E9KXX5_HUMAN
- E9KXX6_HUMAN
- E9KXX7_HUMAN
- E9KXX8_HUMAN
- E9KXX9_HUMAN
- E9KXY0_HUMAN
- E9KXY1_HUMAN
- E9KXY2_HUMAN
- E9KXY3_HUMAN
- E9KXY4_HUMAN
- E9KXY5_HUMAN
- E9KXY6_HUMAN
- E9KXY7_HUMAN
- E9KXY8_HUMAN
- E9KXY9_HUMAN
- E9KXZ0_HUMAN
- E9KXZ1_HUMAN
- E9KXZ2_HUMAN
- E9KXZ3_HUMAN
- E9KXZ4_HUMAN
- E9KXZ5_HUMAN
- E9KXZ6_HUMAN
- E9KXZ7_HUMAN
- E9KXZ8_HUMAN
- E9KXZ9_HUMAN
- E9KY00_HUMAN
- E9KY01_HUMAN
- E9KY02_HUMAN
- E9KY03_HUMAN
- E9KY04_HUMAN
- E9KY05_HUMAN
- E9KY06_HUMAN
- E9KY07_HUMAN
- E9KY08_HUMAN
- E9KY09_HUMAN
- E9KY10_HUMAN
- E9KY11_HUMAN
- E9KY12_HUMAN
- E9KY13_HUMAN
- E9KY14_HUMAN
- E9KY15_HUMAN
- E9KY16_HUMAN
- E9KY17_HUMAN
- E9KY18_HUMAN
- E9KY19_HUMAN
Variants for MSX1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MSX1 Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 647201 | Uncertain Significance: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4,860,001(+) | C/G | MISSENSE_VARIANT | |
| 691922 | Uncertain Significance: Craniosynostosis | 4,863,048(+) | G/A | MISSENSE_VARIANT | |
| 702889 | Likely Benign: not provided | 4,862,855(+) | G/T | SYNONYMOUS_VARIANT | |
| 703022 | Benign: Hypoplastic enamel-onycholysis-hypohidrosis syndrome | 4,860,117(+) | C/T | MISSENSE_VARIANT | |
| 703322 | Likely Benign: not provided | 4,863,009(+) | C/A | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1451e212 | CNV | loss | 25503493 |
| dgv1452e212 | CNV | loss | 25503493 |
| esv34196 | OTHER | inversion | 12058347 |
| esv3569251 | CNV | loss | 25503493 |
| esv3569255 | CNV | loss | 25503493 |
| esv3569256 | CNV | loss | 25503493 |
| nsv1074677 | CNV | deletion | 25765185 |
| nsv997889 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.93;
67.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MSX1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MSX1 Gene
Disorders for MSX1 Gene
(43) MalaCards diseases for MSX1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| witkop syndrome |
|
|
| orofacial cleft 5 |
|
|
| tooth agenesis, selective, 1 |
|
|
| tooth agenesis |
|
|
| cleft lip |
|
Search MSX1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
MSX1_HUMAN- Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]: A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients. {ECO:0000269 PubMed:12097313, ECO:0000269 PubMed:8696335}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4. {ECO:0000305 PubMed:1969845}.
- Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected. {ECO:0000269 PubMed:11369996}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:12807959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for MSX1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for MSX1 Gene
Publications for MSX1 Gene
- The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. (PMID: 18932005) van den Boogaard MJ … Steegers-Theunissen RP (Human genetics 2008) 3 23 41
- [Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. (PMID: 18705505) Zhang L … Liang SZ (Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology 2008) 3 23 41
- [Association study on microsatellite polymorphisms of MSX1 gene and nonsyndromic cleft lip and palate]. (PMID: 17557248) Wu PA … Wang K (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007) 3 23 41
- MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. (PMID: 16868654) Tongkobpetch S … Shotelersuk V (Journal of human genetics 2006) 3 23 41
- Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. (PMID: 12807959) Jezewski PA … Murray JC (Journal of medical genetics 2003) 3 4 23
ExternalLinks
Products for MSX1 Gene
- Custom Antibody ServicesOriGene Antibodies for MSX1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for MSX1
- Origene Custom Protein Services for MSX1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MSX1
- Browse OriGene Inhibitory RNA Products For MSX1
- OriGene qPCR primer pairs for MSX1
- OriGene qPCR primer pairs and template standards for MSX1
- OriGene CRISPR knockouts for MSX1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MSX1
- Sino Biological Human cDNA Clone for MSX1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for MSX1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for MSX1
- Novus Biologicals proteins and lysates for MSX1
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for MSX1
- Abcam proteins for MSX1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for MSX1 (AFLGC-MSX1)
- ApexBio compounds for MSX1
- VectorBuilder Custom and pre-made DNA vectors for MSX1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MSX1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MSX1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MSX1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MSX1
- antibodies-online: Show 24 available MSX1 Antibodies ranked by validation data
- Compare Top MSX1 Antibodies
- Recommended
- 65 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC Antibody (anti-human)
- 28 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 15 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- antibodies-online: Show 6 available MSX1 Elisa Kits ranked by validation data
- Compare Top MSX1 Elisa Kits
- Quality Products:
- antibodies-online: Show 18 available MSX1 Proteins ranked by validation data
- Compare Top MSX1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for MSX1
- Search Santa Cruz Biotechnology (SCBT) for MSX1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MSX1
- Horizon Cell Lines for MSX1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MSX1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MSX1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MSX1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MSX1
Sources for MSX1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB