UniProtKB - P50221 (MEOX1_HUMAN)
Protein
Homeobox protein MOX-1
Gene
MEOX1
Organism
Homo sapiens (Human)
Status
Functioni
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.By similarity2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 171 – 230 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- chromatin binding Source: Ensembl
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- HMG box domain binding Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: Ensembl
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- hematopoietic stem cell differentiation Source: UniProtKB
- multicellular organism development Source: ProtInc
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- sclerotome development Source: UniProtKB
- somite development Source: UniProtKB
- somite specification Source: Ensembl
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P50221 |
SIGNORi | P50221 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox protein MOX-1Alternative name(s): Mesenchyme homeobox 1 |
Gene namesi | Name:MEOX1 Synonyms:MOX1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7013, MEOX1 |
MIMi | 600147, gene |
neXtProti | NX_P50221 |
VEuPathDBi | HostDB:ENSG00000005102.12 |
Subcellular locationi
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Klippel-Feil syndrome 2, autosomal recessive (KFS2)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease 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.
Related information in OMIMOrganism-specific databases
DisGeNETi | 4222 |
MalaCardsi | MEOX1 |
MIMi | 214300, phenotype |
OpenTargetsi | ENSG00000005102 |
Orphaneti | 2345, Isolated Klippel-Feil syndrome |
PharmGKBi | PA30747 |
Miscellaneous databases
Pharosi | P50221, Tbio |
Genetic variation databases
BioMutai | MEOX1 |
DMDMi | 1709078 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000049195 | 1 – 254 | Homeobox protein MOX-1Add BLAST | 254 |
Proteomic databases
MassIVEi | P50221 |
PaxDbi | P50221 |
PeptideAtlasi | P50221 |
PRIDEi | P50221 |
ProteomicsDBi | 2245 56204 [P50221-1] 56205 [P50221-2] |
PTM databases
iPTMneti | P50221 |
PhosphoSitePlusi | P50221 |
Expressioni
Gene expression databases
Bgeei | ENSG00000005102, Expressed in tendon of biceps brachii and 170 other tissues |
ExpressionAtlasi | P50221, baseline and differential |
Genevisiblei | P50221, HS |
Organism-specific databases
HPAi | ENSG00000005102, Low tissue specificity |
Interactioni
Binary interactionsi
P50221
GO - Molecular functioni
- HMG box domain binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 110385, 104 interactors |
IntActi | P50221, 108 interactors |
MINTi | P50221 |
STRINGi | 9606.ENSP00000321684 |
Miscellaneous databases
RNActi | P50221, protein |
Family & Domainsi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0489, Eukaryota |
GeneTreei | ENSGT00940000154018 |
HOGENOMi | CLU_081326_1_0_1 |
InParanoidi | P50221 |
OMAi | APFSFHQ |
OrthoDBi | 1522857at2759 |
PhylomeDBi | P50221 |
TreeFami | TF351603 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR042634, MOX-1/MOX-2 |
PANTHERi | PTHR24328, PTHR24328, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: P50221-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MDPAASSCMR SLQPPAPVWG CLRNPHSEGN GASGLPHYPP TPFSFHQKPD
60 70 80 90 100
FLATATAAYP DFSASCLAAT PHSLPQEEHI FTEQHPAFPQ SPNWHFPVSD
110 120 130 140 150
ARRRPNSGPA GGSKEMGTSS LGLVDTTGGP GDDYGVLGST ANETEKKSSR
160 170 180 190 200
RRKESSDNQE NRGKPEGSSK ARKERTAFTK EQLRELEAEF AHHNYLTRLR
210 220 230 240 250
RYEIAVNLDL SERQVKVWFQ NRRMKWKRVK GGQPISPNGQ DPEDGDSTAS
PSSE
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 69 | A → G in BAF83828 (PubMed:14702039). | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049584 | 27 | S → L. Corresponds to variant dbSNP:rs9898682EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046700 | 1 – 115 | Missing in isoform 3. CuratedAdd BLAST | 115 | |
Alternative sequenceiVSP_043340 | 157 – 254 | DNQEN…SPSSE → GQSVVPEPKDEVEACEGRSA HLPQWAGP in isoform 2. 1 PublicationAdd BLAST | 98 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U10492 mRNA Translation: AAA19983.1 U10493 mRNA Translation: AAA19984.1 AK291139 mRNA Translation: BAF83828.1 AC004149 Genomic DNA No translation available. AC068675 Genomic DNA No translation available. CH471178 Genomic DNA Translation: EAW51672.1 BC069474 mRNA Translation: AAH69474.1 BC069506 mRNA Translation: AAH69506.1 |
CCDSi | CCDS11466.1 [P50221-1] CCDS11467.1 [P50221-2] CCDS42343.1 [P50221-3] |
PIRi | I38034 |
RefSeqi | NP_001035091.1, NM_001040002.1 [P50221-3] NP_004518.1, NM_004527.3 [P50221-1] NP_054705.1, NM_013999.3 [P50221-2] |
Genome annotation databases
Ensembli | ENST00000318579; ENSP00000321684; ENSG00000005102 [P50221-1] ENST00000393661; ENSP00000377271; ENSG00000005102 [P50221-3] ENST00000549132; ENSP00000449049; ENSG00000005102 [P50221-2] |
GeneIDi | 4222 |
KEGGi | hsa:4222 |
UCSCi | uc002idz.4, human [P50221-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U10492 mRNA Translation: AAA19983.1 U10493 mRNA Translation: AAA19984.1 AK291139 mRNA Translation: BAF83828.1 AC004149 Genomic DNA No translation available. AC068675 Genomic DNA No translation available. CH471178 Genomic DNA Translation: EAW51672.1 BC069474 mRNA Translation: AAH69474.1 BC069506 mRNA Translation: AAH69506.1 |
CCDSi | CCDS11466.1 [P50221-1] CCDS11467.1 [P50221-2] CCDS42343.1 [P50221-3] |
PIRi | I38034 |
RefSeqi | NP_001035091.1, NM_001040002.1 [P50221-3] NP_004518.1, NM_004527.3 [P50221-1] NP_054705.1, NM_013999.3 [P50221-2] |
3D structure databases
SMRi | P50221 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110385, 104 interactors |
IntActi | P50221, 108 interactors |
MINTi | P50221 |
STRINGi | 9606.ENSP00000321684 |
PTM databases
iPTMneti | P50221 |
PhosphoSitePlusi | P50221 |
Genetic variation databases
BioMutai | MEOX1 |
DMDMi | 1709078 |
Proteomic databases
MassIVEi | P50221 |
PaxDbi | P50221 |
PeptideAtlasi | P50221 |
PRIDEi | P50221 |
ProteomicsDBi | 2245 56204 [P50221-1] 56205 [P50221-2] |
Protocols and materials databases
Antibodypediai | 17286, 382 antibodies |
DNASUi | 4222 |
Genome annotation databases
Ensembli | ENST00000318579; ENSP00000321684; ENSG00000005102 [P50221-1] ENST00000393661; ENSP00000377271; ENSG00000005102 [P50221-3] ENST00000549132; ENSP00000449049; ENSG00000005102 [P50221-2] |
GeneIDi | 4222 |
KEGGi | hsa:4222 |
UCSCi | uc002idz.4, human [P50221-1] |
Organism-specific databases
CTDi | 4222 |
DisGeNETi | 4222 |
GeneCardsi | MEOX1 |
HGNCi | HGNC:7013, MEOX1 |
HPAi | ENSG00000005102, Low tissue specificity |
MalaCardsi | MEOX1 |
MIMi | 214300, phenotype 600147, gene |
neXtProti | NX_P50221 |
OpenTargetsi | ENSG00000005102 |
Orphaneti | 2345, Isolated Klippel-Feil syndrome |
PharmGKBi | PA30747 |
VEuPathDBi | HostDB:ENSG00000005102.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0489, Eukaryota |
GeneTreei | ENSGT00940000154018 |
HOGENOMi | CLU_081326_1_0_1 |
InParanoidi | P50221 |
OMAi | APFSFHQ |
OrthoDBi | 1522857at2759 |
PhylomeDBi | P50221 |
TreeFami | TF351603 |
Enzyme and pathway databases
PathwayCommonsi | P50221 |
SIGNORi | P50221 |
Miscellaneous databases
BioGRID-ORCSi | 4222, 4 hits in 897 CRISPR screens |
GeneWikii | MEOX1 |
GenomeRNAii | 4222 |
Pharosi | P50221, Tbio |
PROi | PR:P50221 |
RNActi | P50221, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000005102, Expressed in tendon of biceps brachii and 170 other tissues |
ExpressionAtlasi | P50221, baseline and differential |
Genevisiblei | P50221, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa IPR042634, MOX-1/MOX-2 |
PANTHERi | PTHR24328, PTHR24328, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MEOX1_HUMAN | |
Accessioni | P50221Primary (citable) accession number: P50221 Secondary accession number(s): A8K524, A8MWF9, Q15069 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | October 1, 1996 | |
Last modified: | February 10, 2021 | |
This is version 180 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot