InnateDB Protein
|
IDBP-52860.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
MEOX1
|
Protein Name
|
mesenchyme homeobox 1
|
Synonyms
|
KFS2; MOX1;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000321684
|
InnateDB Gene
|
IDBG-52858 (MEOX1)
|
Protein Structure
|
|
Function |
Role in mesoderm induction and its earliest regional specification, somitogenesis, and myogenic and sclerotomal differentiation. {ECO:0000250}.
|
Subcellular Localization |
Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.
|
Disease Associations |
Klippel-Feil syndrome 2, autosomal recessive (KFS2) [MIM:214300]: A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. {ECO:0000269PubMed:23290072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
|
Protein-Protein |
9
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
3 [view]
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0000978
|
RNA polymerase II core promoter proximal region sequence-specific DNA binding
|
GO:0001077
|
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
|
GO:0003674
|
molecular_function
|
GO:0003677
|
DNA binding
|
GO:0003682
|
chromatin binding
|
GO:0003700
|
sequence-specific DNA binding transcription factor activity
|
GO:0043565
|
sequence-specific DNA binding
|
GO:0071837
|
HMG box domain binding
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001356
Homeobox domain
IPR009057
Homeodomain-like
IPR020479
Homeodomain, metazoa
|
PFAM |
PF00046
|
PRINTS |
PR00024
|
PIRSF |
|
SMART |
SM00389
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P50221
|
PhosphoSite |
PhosphoSite-P50221
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
4222
|
UniGene |
Hs.438
|
RefSeq |
NP_004518
|
HUGO |
HGNC:7013
|
OMIM |
600147
|
CCDS |
CCDS11466
|
HPRD |
02537
|
IMGT |
|
EMBL |
AC004149
AC068675
BC069474
BC069506
CH471178
U10492
U10493
|
GenPept |
AAA19983
AAA19984
AAH69474
AAH69506
EAW51672
|
|
|