MEOX1
entrez
4222
canonical
uniprot
P50221
canonical
ensembl
ENSG00000005102
resolver
ensp
ENSP00000321684
resolver
ensp
ENSP00000377271
resolver
ensp
ENSP00000449049
resolver
ensp
ENSP00000704875
resolver
genesymbol
MEOX1
resolver
genesymbol_syn
MOX1
resolver
hgnc
HGNC:7013
resolver
uniprot
A8K524
resolver
uniprot
A8MWF9
resolver
uniprot
Q15069
resolver
uniprot_entry
MEOX1_HUMAN
resolver
uniprot_sec
A8K524
resolver
uniprot_sec
A8MWF9
resolver
uniprot_sec
Q15069
resolver
amino_acid_sequence
MDPAASSCMRSLQPPAPVWGCLRNPHSEGNGASGLPHYPPTPFSFHQKPDFLATATAAYPDFSASCLAATPHSLPQEEHIFTEQHPAFPQSPNWHFPVSDARRRPNSGPAGGSKEMGTSSLGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23290072, ECO:0000269|PubMed:24073994}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mesodermal transcription factor that plays a key role in somitogenesis and is specifically required for sclerotome development. Required for maintenance of the sclerotome polarity and formation of the cranio-cervical joints (PubMed:23290072, PubMed:24073994). Binds specifically to the promoter of target genes and regulates their expression. Activates expression of NKX3-2 in the sclerotome. Activates expression of CDKN1A and CDKN2A in endothelial cells, acting as a regulator of vascular cell proliferation. While it activates CDKN1A in a DNA-dependent manner, it activates CDKN2A in a DNA-independent manner. Required for hematopoietic stem cell (HSCs) induction via its role in somitogenesis: specification of HSCs occurs via the deployment of a specific endothelial precursor population, which arises within a sub-compartment of the somite named endotome. {ECO:0000250|UniProtKB:F1Q4R9, ECO:0000250|UniProtKB:P32442, ECO:0000269|PubMed:23290072, ECO:0000269|PubMed:24073994}.
uniprot
proteins
mass_dalton
27997
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
23290072
uniprot
proteins
pubmed
24073994
uniprot
proteins
pubmed
7987315
uniprot
proteins
sequence_length
254
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P32442}. Cytoplasm {ECO:0000250|UniProtKB:P32442}. Note=Localizes predominantly in the nucleus. {ECO:0000250|UniProtKB:P32442}.
uniprot
proteins