P50221 · MEOX1_HUMAN
- ProteinHomeobox protein MOX-1
- GeneMEOX1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids254 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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
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
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 171-230 | Homeobox | ||||
Sequence: ARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVK |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | cytoplasm | |
Cellular Component | nucleus | |
Molecular Function | chromatin binding | |
Molecular Function | DNA-binding transcription activator activity, RNA polymerase II-specific | |
Molecular Function | DNA-binding transcription factor activity | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | HMG box domain binding | |
Molecular Function | RNA polymerase II cis-regulatory region sequence-specific DNA binding | |
Molecular Function | sequence-specific DNA binding | |
Molecular Function | sequence-specific double-stranded DNA binding | |
Biological Process | hematopoietic stem cell differentiation | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | sclerotome development | |
Biological Process | somite development | |
Biological Process | somite specification |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHomeobox protein MOX-1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP50221
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Involvement in disease
Klippel-Feil syndrome 2, autosomal recessive (KFS2)
- Note
- DescriptionA 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.
- See alsoMIM:214300
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_049584 | 27 | in dbSNP:rs9898682 | |||
Sequence: S → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 336 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000049195 | 1-254 | UniProt | Homeobox protein MOX-1 | |||
Sequence: MDPAASSCMRSLQPPAPVWGCLRNPHSEGNGASGLPHYPPTPFSFHQKPDFLATATAAYPDFSASCLAATPHSLPQEEHIFTEQHPAFPQSPNWHFPVSDARRRPNSGPAGGSKEMGTSSLGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE | |||||||
Modified residue (large scale data) | 236 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Interaction
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 86-178 | Disordered | ||||
Sequence: PAFPQSPNWHFPVSDARRRPNSGPAGGSKEMGTSSLGLVDTTGGPGDDYGVLGSTANETEKKSSRRRKESSDNQENRGKPEGSSKARKERTAF | ||||||
Compositional bias | 144-178 | Basic and acidic residues | ||||
Sequence: TEKKSSRRRKESSDNQENRGKPEGSSKARKERTAF | ||||||
Region | 227-254 | Disordered | ||||
Sequence: KRVKGGQPISPNGQDPEDGDSTASPSSE | ||||||
Compositional bias | 240-254 | Polar residues | ||||
Sequence: QDPEDGDSTASPSSE |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
P50221-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length254
- Mass (Da)27,997
- Last updated1996-10-01 v1
- ChecksumA53724BF77C02166
P50221-2
- Name2
- Differences from canonical
- 157-254: DNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE → GQSVVPEPKDEVEACEGRSAHLPQWAGP
P50221-3
- Name3
- Differences from canonical
- 1-115: Missing
Features
Showing features for alternative sequence, sequence conflict, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_046700 | 1-115 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 69 | in Ref. 2; BAF83828 | ||||
Sequence: A → G | ||||||
Compositional bias | 144-178 | Basic and acidic residues | ||||
Sequence: TEKKSSRRRKESSDNQENRGKPEGSSKARKERTAF | ||||||
Alternative sequence | VSP_043340 | 157-254 | in isoform 2 | |||
Sequence: DNQENRGKPEGSSKARKERTAFTKEQLRELEAEFAHHNYLTRLRRYEIAVNLDLSERQVKVWFQNRRMKWKRVKGGQPISPNGQDPEDGDSTASPSSE → GQSVVPEPKDEVEACEGRSAHLPQWAGP | ||||||
Compositional bias | 240-254 | Polar residues | ||||
Sequence: QDPEDGDSTASPSSE |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U10492 EMBL· GenBank· DDBJ | AAA19983.1 EMBL· GenBank· DDBJ | mRNA | ||
U10493 EMBL· GenBank· DDBJ | AAA19984.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291139 EMBL· GenBank· DDBJ | BAF83828.1 EMBL· GenBank· DDBJ | mRNA | ||
AC004149 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC068675 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471178 EMBL· GenBank· DDBJ | EAW51672.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC069474 EMBL· GenBank· DDBJ | AAH69474.1 EMBL· GenBank· DDBJ | mRNA | ||
BC069506 EMBL· GenBank· DDBJ | AAH69506.1 EMBL· GenBank· DDBJ | mRNA |