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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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi171 – 23060HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

Complete GO annotation...

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

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

Polymorphism and mutation databases

BioMutaiMEOX1.
DMDMi1709078.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 254254Homeobox protein MOX-1PRO_0000049195Add
BLAST

Proteomic databases

PaxDbiP50221.
PRIDEiP50221.

Expressioni

Gene expression databases

BgeeiP50221.
CleanExiHS_MEOX1.
ExpressionAtlasiP50221. baseline and differential.
GenevisibleiP50221. HS.

Organism-specific databases

HPAiHPA045214.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
A8KAD63EBI-2864512,EBI-10174974
ALOX5P099173EBI-2864512,EBI-79934
APPL1Q9UKG13EBI-2864512,EBI-741243
CIAO1O760713EBI-2864512,EBI-725145
CIB3Q96Q773EBI-2864512,EBI-10292696
CKS1BP610243EBI-2864512,EBI-456371
DCXO436023EBI-2864512,EBI-8646694
MAPK9P459843EBI-2864512,EBI-713568
MID1O153443EBI-2864512,EBI-2340316
MORF4L1Q9UBU83EBI-2864512,EBI-399246
NAGKQ9UJ703EBI-2864512,EBI-372578
NEIL2Q969S23EBI-2864512,EBI-10281234
PAGE3Q5JUK93EBI-2864512,EBI-10244544
QRICH1Q2TAL83EBI-2864512,EBI-2798044
SYT17Q9BSW73EBI-2864512,EBI-745392
TCEANCQ8N8B73EBI-2864512,EBI-954696
TXLNAP402223EBI-2864512,EBI-359793
UBE2R2Q712K33EBI-2864512,EBI-2340879
UBXN2BQ14CS03EBI-2864512,EBI-1993619

Protein-protein interaction databases

BioGridi110385. 32 interactions.
IntActiP50221. 21 interactions.
MINTiMINT-202809.
STRINGi9606.ENSP00000321684.

Structurei

3D structure databases

ProteinModelPortaliP50221.
SMRiP50221. Positions 175-228.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000230987.
HOVERGENiHBG052456.
InParanoidiP50221.
KOiK09322.
OMAiQENRGKP.
OrthoDBiEOG7JDQZZ.
PhylomeDBiP50221.
TreeFamiTF351603.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti69 – 691A → G in BAF83828 (PubMed:14702039).

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271S → L.
Corresponds to variant rs9898682 [ dbSNP | Ensembl ].
VAR_049584

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 115115Missing in isoform 3. CuratedVSP_046700Add
BLAST
Alternative sequencei157 – 25498DNQEN…SPSSE → GQSVVPEPKDEVEACEGRSA HLPQWAGP in isoform 2. 1 PublicationVSP_043340Add
BLAST

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

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.
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.

3D structure databases

ProteinModelPortaliP50221.
SMRiP50221. Positions 175-228.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110385. 32 interactions.
IntActiP50221. 21 interactions.
MINTiMINT-202809.
STRINGi9606.ENSP00000321684.

Polymorphism and mutation databases

BioMutaiMEOX1.
DMDMi1709078.

Proteomic databases

PaxDbiP50221.
PRIDEiP50221.

Protocols and materials databases

DNASUi4222.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi4222.
GeneCardsiMEOX1.
HGNCiHGNC:7013. MEOX1.
HPAiHPA045214.
MalaCardsiMEOX1.
MIMi214300. phenotype.
600147. gene.
neXtProtiNX_P50221.
Orphaneti2345. Isolated Klippel-Feil syndrome.
PharmGKBiPA30747.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489. Eukaryota.
ENOG410ZTBY. LUCA.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000230987.
HOVERGENiHBG052456.
InParanoidiP50221.
KOiK09322.
OMAiQENRGKP.
OrthoDBiEOG7JDQZZ.
PhylomeDBiP50221.
TreeFamiTF351603.

Miscellaneous databases

GeneWikiiMEOX1.
GenomeRNAii4222.
NextBioi16659.
PROiP50221.
SOURCEiSearch...

Gene expression databases

BgeeiP50221.
CleanExiHS_MEOX1.
ExpressionAtlasiP50221. baseline and differential.
GenevisibleiP50221. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
    Tissue: Mammary gland.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly."
    Mohamed J.Y., Faqeih E., Alsiddiky A., Alshammari M.J., Ibrahim N.A., Alkuraya F.S.
    Am. J. Hum. Genet. 92:157-161(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN KFS2, FUNCTION.
  7. Cited for: INVOLVEMENT IN KFS2, FUNCTION.

Entry informationi

Entry nameiMEOX1_HUMAN
AccessioniPrimary (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: May 11, 2016
This is version 140 of the entry and version 1 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.