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Protein

Homeobox protein MOX-1

Gene

MEOX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi171 – 230HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiP50221.

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein MOX-1
Alternative name(s):
Mesenchyme homeobox 1
Gene namesi
Name:MEOX1
Synonyms:MOX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:7013. MEOX1.

Subcellular locationi

  • Nucleus By similarity
  • Cytoplasm By similarity

  • Note: Localizes predominantly in the nucleus.By similarity

GO - Cellular componenti

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Klippel-Feil syndrome 2, autosomal recessive (KFS2)2 Publications
The disease is caused by mutations 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.
See also OMIM:214300

Organism-specific databases

DisGeNETi4222.
MalaCardsiMEOX1.
MIMi214300. phenotype.
OpenTargetsiENSG00000005102.
Orphaneti2345. Isolated Klippel-Feil syndrome.
PharmGKBiPA30747.

Polymorphism and mutation databases

BioMutaiMEOX1.
DMDMi1709078.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000491951 – 254Homeobox protein MOX-1Add BLAST254

Proteomic databases

PaxDbiP50221.
PeptideAtlasiP50221.
PRIDEiP50221.

PTM databases

iPTMnetiP50221.
PhosphoSitePlusiP50221.

Expressioni

Gene expression databases

BgeeiENSG00000005102.
CleanExiHS_MEOX1.
ExpressionAtlasiP50221. baseline and differential.
GenevisibleiP50221. HS.

Organism-specific databases

HPAiHPA045214.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110385. 32 interactors.
IntActiP50221. 91 interactors.
MINTiMINT-202809.
STRINGi9606.ENSP00000321684.

Structurei

3D structure databases

ProteinModelPortaliP50221.
SMRiP50221.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000230987.
HOVERGENiHBG052456.
InParanoidiP50221.
KOiK09322.
OMAiWHFPVSE.
OrthoDBiEOG091G0PFO.
PhylomeDBiP50221.
TreeFamiTF351603.

Family and domain databases

InterProiView protein in InterPro
IPR009057. Homeobox-like.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
PfamiView protein in Pfam
PF00046. Homeobox. 1 hit.
PRINTSiPR00024. HOMEOBOX.
SMARTiView protein in SMART
SM00389. HOX. 1 hit.
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiView protein in PROSITE
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P50221-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:254
Mass (Da):27,997
Last modified:October 1, 1996 - v1
Checksum:iA53724BF77C02166
GO
Isoform 2 (identifier: P50221-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-254: DNQENRGKPE...GDSTASPSSE → GQSVVPEPKDEVEACEGRSAHLPQWAGP

Show »
Length:184
Mass (Da):19,557
Checksum:i59096E1E7C9801ED
GO
Isoform 3 (identifier: P50221-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: Missing.

Note: Gene prediction based on EST data.
Show »
Length:139
Mass (Da):15,628
Checksum:i004537165848FC9C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69A → G in BAF83828 (PubMed:14702039).1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04958427S → L. Corresponds to variant dbSNP:rs9898682Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0467001 – 115Missing in isoform 3. CuratedAdd BLAST115
Alternative sequenceiVSP_043340157 – 254DNQEN…SPSSE → GQSVVPEPKDEVEACEGRSA HLPQWAGP in isoform 2. 1 PublicationAdd BLAST98

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.
CCDSiCCDS11466.1. [P50221-1]
CCDS11467.1. [P50221-2]
CCDS42343.1. [P50221-3]
PIRiI38034.
RefSeqiNP_001035091.1. NM_001040002.1. [P50221-3]
NP_004518.1. NM_004527.3. [P50221-1]
NP_054705.1. NM_013999.3. [P50221-2]
UniGeneiHs.438.

Genome annotation databases

EnsembliENST00000318579; ENSP00000321684; ENSG00000005102. [P50221-1]
ENST00000329168; ENSP00000328678; ENSG00000005102. [P50221-2]
ENST00000393661; ENSP00000377271; ENSG00000005102. [P50221-3]
GeneIDi4222.
KEGGihsa:4222.
UCSCiuc002idz.4. human. [P50221-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMEOX1_HUMAN
AccessioniPrimary (citable) accession number: P50221
Secondary accession number(s): A8K524, A8MWF9, Q15069
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: August 30, 2017
This is version 151 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot