Homo sapiens Protein: MEOX1
Summary
InnateDB Protein IDBP-52862.6
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 ENSP00000328678
InnateDB Gene IDBG-52858 (MEOX1)
Protein Structure
UniProt Annotation
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
Interactions
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]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0007275 multicellular organismal development
GO:0008150 biological_process
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P50221
PhosphoSite PhosphoSite-P50221
TrEMBL
UniProt Splice Variant
Entrez Gene 4222
UniGene Hs.438
RefSeq NP_054705
HUGO HGNC:7013
OMIM 600147
CCDS CCDS11467
HPRD 02537
IMGT
EMBL AC004149 AC068675 BC069474 BC069506 CH471178 U10492 U10493
GenPept AAA19983 AAA19984 AAH69474 AAH69506 EAW51672