MSX1 - msh homeobox 1 Gene
Also Known as HOX7; HYD1; ECTD3; STHAG1
Species: Homo sapiens
About MSX1
This gene has 2 transcripts (splice variants), 127 orthologues, 1 paralogue and is associated with 10 phenotypes. Biased expression in endometrium (RPKM 10.8), fat (RPKM 4.4) and 8 other tissues.
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]
MSX1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002448.3 | NP_002439.2 | homeobox protein MSX-1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables p53 binding |
IPI
IPI: Inferred from physical interaction
|
15705871 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in cell morphogenesis |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
| involved in embryonic nail plate morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
11369996 | GOA |
| involved in face morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
10742093 | GOA |
| involved in negative regulation of cell growth |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
| involved in odontogenesis of dentin-containing tooth |
IMP
IMP: Inferred from mutant phenotype
|
8696335 | GOA |
| involved in positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
| involved in protein localization to nucleus |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
| involved in protein stabilization |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15705871 | GOA |
MSX1 Protein Structure
Homeobox: Homeobox domain (173 - 229)
- 0
- 100
- 200
- 303 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein MSX-1 |
|
MSX1 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P84234 | MSX1 Antibody (YA3931) | WB, ELISA | Human |
| HY-P84234A | MSX1 Antibody (YA3931)(PBS only) | WB, ELISA | Human |
| HY-P85285 | MSX1 Antibody (YA4977) | WB | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Witkop Syndrome |
|
|
| Orofacial Cleft 5 |
|
|
| Tooth Agenesis, Selective, 1 |
|
|
| Tooth Agenesis |
|
|
| Cleft Lip |
|
|
| Isolated Cleft Lip |
|
|
| Cleft Lip And Alveolus |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Cleft Lip/Palate |
|
|
| Cleft Lip With Or Without Cleft Palate |
|
|
| Cleft Palate, Isolated |
|
|
| Orofacial Cleft |
|
|
| Anodontia |
|
|
| Van Der Woude Syndrome |
|
|
| Ellis-Van Creveld Syndrome |
|
|
| Ectodermal Dysplasia |
|
|
| Ankyloglossia With Or Without Tooth Anomalies |
|
|
| Popliteal Pterygium Syndrome |
|
|
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
|
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
|
| Treacher Collins Syndrome 1 |
|
|
| Frontonasal Dysplasia 1 |
|
|
| Syngnathia |
|
|
| Branchiooculofacial Syndrome |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Parietal Foramina |
|
|
| Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
|
| Orofacial Cleft 10 |
|
|
| Chromosome 10q23 Deletion Syndrome |
|
|
| Craniofacial Microsomia |
|
|
| Chromosome 2q35 Duplication Syndrome |
|
|
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
|
| Polydactyly |
|
|
| Physical Disorder |
|
|
| Branchiootic Syndrome |
|
|
| Lymphoid Interstitial Pneumonia |
|
|
| Weyers Acrofacial Dysostosis |
|
|
| Omphalocele |
|
|
| Cleidocranial Dysplasia |
|
|
| Crouzon Syndrome |
|
|
| Synostosis |
|
|
| Saethre-Chotzen Syndrome |
|
|
| Lacrimoauriculodentodigital Syndrome |
|
|
| Huntington Disease |
|
|
| Neural Tube Defects |
|
|
| Double Outlet Right Ventricle |
|
|
| Stickler Syndrome |
|
|
| Craniosynostosis |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Hirschsprung Disease 1 |
|
|
| Coloboma Of Macula |
|
|
| Tetralogy Of Fallot |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | MSX1 | VGNC | VGNC:107349 |
| Bos taurus | MSX1 | VGNC | VGNC:31711 |
| Rattus norvegicus | MSX1 | RGD | RGD:620929 |
| Mus musculus | MSX1 | MGD | MGI:97168 |
| Canis familiaris | MSX1 | VGNC | VGNC:53188 |
| Others | MSX1 | NCBI |