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Protein

Homeobox protein MSX-1

Gene

MSX1

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

Functioni

Acts as a transcriptional repressor. May play a role in limb-pattern formation. Acts in cranofacial development and specifically in odontogenesis. Expression in the developing nail bed mesenchyme is important for nail plate thickness and integrity.2 Publications

Caution

It is uncertain whether Met-1 or Met-7 is the initiator.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi172 – 231HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiP28360
SIGNORiP28360

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein MSX-1
Alternative name(s):
Homeobox protein Hox-7
Msh homeobox 1-like protein
Gene namesi
Name:MSX1
Synonyms:HOX7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163132.6
HGNCiHGNC:7391 MSX1
MIMi142983 gene
neXtProtiNX_P28360

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Tooth agenesis, selective, 1 (STHAG1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG1 can be associated with orofacial cleft in some patients.
See also OMIM:106600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01571267M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar.1
MSX1 is deleted in some patients with Wolf-Hirschhorn syndrome (WHS). WHS results from sub-telomeric deletions in the short arm of chromosome 4.1 Publication
Ectodermal dysplasia 3, Witkop type (ECTD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD3 is characterized by abnormalities largely limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails). This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands. The teeth are not as severely affected.
See also OMIM:189500
Non-syndromic orofacial cleft 5 (OFC5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.
See also OMIM:608874
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01839184E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar.1
Natural variantiVAR_01839297G → D in OFC5; cleft palate only. 1 Publication1
Natural variantiVAR_018393120V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi4487
MalaCardsiMSX1
MIMi106600 phenotype
189500 phenotype
608874 phenotype
OpenTargetsiENSG00000163132
Orphaneti141291 Cleft lip and alveolus
199306 Cleft lip/palate
2228 Hypodontia-dysplasia of nails syndrome
199302 Isolated cleft lip
2227 NON RARE IN EUROPE: Hypodontia
99798 Oligodontia
PharmGKBiPA31196

Polymorphism and mutation databases

BioMutaiMSX1
DMDMi557952603

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000490861 – 303Homeobox protein MSX-1Add BLAST303

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki133Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

Post-translational modificationi

Sumoylated by PIAS1, desumoylated by SENP1.By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MaxQBiP28360
PaxDbiP28360
PeptideAtlasiP28360
PRIDEiP28360
ProteomicsDBi54482

PTM databases

iPTMnetiP28360
PhosphoSitePlusiP28360

Expressioni

Tissue specificityi

Expressed in the developing nail bed mesenchyme.1 Publication

Gene expression databases

BgeeiENSG00000163132 Expressed in 190 organ(s), highest expression level in endometrium
CleanExiHS_MSX1
GenevisibleiP28360 HS

Organism-specific databases

HPAiCAB026198
HPA063895
HPA073604

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi110593, 14 interactors
CORUMiP28360
IntActiP28360, 5 interactors
MINTiP28360
STRINGi9606.ENSP00000372170

Structurei

3D structure databases

ProteinModelPortaliP28360
SMRiP28360
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 42Poly-Ala8
Compositional biasi261 – 269Poly-Ala9

Sequence similaritiesi

Belongs to the Msh homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0492 Eukaryota
ENOG410YT2J LUCA
GeneTreeiENSGT00920000148979
HOGENOMiHOG000231922
HOVERGENiHBG005205
InParanoidiP28360
KOiK09341
OMAiVGDIMNM
OrthoDBiEOG091G0P1V
PhylomeDBiP28360
TreeFamiTF350699

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
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

Sequencei

Sequence statusi: Complete.

P28360-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA
60 70 80 90 100
KPKVSPSLLP FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP
110 120 130 140 150
GSLGAPDAPS SPRPLGHFSV GGLLKLPEDA LVKAESPEKP ERTPWMQSPR
160 170 180 190 200
FSPPPARRLS PPACTLRKHK TNRKPRTPFT TAQLLALERK FRQKQYLSIA
210 220 230 240 250
ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPPAA
260 270 280 290 300
FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY

HLT
Length:303
Mass (Da):31,496
Last modified:November 13, 2013 - v3
Checksum:i1B5F01B35920E64F
GO

Sequence cautioni

The sequence AAA52683 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAA58665 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH67353 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAL17870 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence ABK81117 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAF83325 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28G → D in BAF83325 (PubMed:14702039).Curated1
Sequence conflicti45A → T in AAA58665 (PubMed:1284527).Curated1
Sequence conflicti97 – 99GVP → ASR in AAA58665 (PubMed:1284527).Curated3
Sequence conflicti146M → T in BAF83325 (PubMed:14702039).Curated1
Sequence conflicti222N → S in BAF83325 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01571267M → K in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913130EnsemblClinVar.1
Natural variantiVAR_01839184E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs28928890EnsemblClinVar.1
Natural variantiVAR_01839297G → D in OFC5; cleft palate only. 1 Publication1
Natural variantiVAR_018393120V → G in OFC5; cleft palate only. 1 PublicationCorresponds to variant dbSNP:rs759548721Ensembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant dbSNP:rs28933081EnsemblClinVar.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant dbSNP:rs150284621EnsemblClinVar.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant dbSNP:rs121913129EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation.
M97676 mRNA Translation: AAA52683.1 Different initiation.
AF426432 Genomic DNA Translation: AAL17870.1 Different initiation.
AK290636 mRNA Translation: BAF83325.1 Different initiation.
AC092437 Genomic DNA No translation available.
BC021285 mRNA Translation: AAH21285.4
BC067353 mRNA Translation: AAH67353.1 Different initiation.
EF065625 Genomic DNA Translation: ABK81117.1 Different initiation.
CCDSiCCDS3378.2
PIRiA40560
I54320
RefSeqiNP_002439.2, NM_002448.3
UniGeneiHs.424414

Genome annotation databases

EnsembliENST00000382723; ENSP00000372170; ENSG00000163132
GeneIDi4487
KEGGihsa:4487
UCSCiuc003gif.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M76732, M76731 Genomic DNA Translation: AAA58665.1 Different initiation.
M97676 mRNA Translation: AAA52683.1 Different initiation.
AF426432 Genomic DNA Translation: AAL17870.1 Different initiation.
AK290636 mRNA Translation: BAF83325.1 Different initiation.
AC092437 Genomic DNA No translation available.
BC021285 mRNA Translation: AAH21285.4
BC067353 mRNA Translation: AAH67353.1 Different initiation.
EF065625 Genomic DNA Translation: ABK81117.1 Different initiation.
CCDSiCCDS3378.2
PIRiA40560
I54320
RefSeqiNP_002439.2, NM_002448.3
UniGeneiHs.424414

3D structure databases

ProteinModelPortaliP28360
SMRiP28360
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110593, 14 interactors
CORUMiP28360
IntActiP28360, 5 interactors
MINTiP28360
STRINGi9606.ENSP00000372170

PTM databases

iPTMnetiP28360
PhosphoSitePlusiP28360

Polymorphism and mutation databases

BioMutaiMSX1
DMDMi557952603

Proteomic databases

MaxQBiP28360
PaxDbiP28360
PeptideAtlasiP28360
PRIDEiP28360
ProteomicsDBi54482

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382723; ENSP00000372170; ENSG00000163132
GeneIDi4487
KEGGihsa:4487
UCSCiuc003gif.4 human

Organism-specific databases

CTDi4487
DisGeNETi4487
EuPathDBiHostDB:ENSG00000163132.6
GeneCardsiMSX1
HGNCiHGNC:7391 MSX1
HPAiCAB026198
HPA063895
HPA073604
MalaCardsiMSX1
MIMi106600 phenotype
142983 gene
189500 phenotype
608874 phenotype
neXtProtiNX_P28360
OpenTargetsiENSG00000163132
Orphaneti141291 Cleft lip and alveolus
199306 Cleft lip/palate
2228 Hypodontia-dysplasia of nails syndrome
199302 Isolated cleft lip
2227 NON RARE IN EUROPE: Hypodontia
99798 Oligodontia
PharmGKBiPA31196
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0492 Eukaryota
ENOG410YT2J LUCA
GeneTreeiENSGT00920000148979
HOGENOMiHOG000231922
HOVERGENiHBG005205
InParanoidiP28360
KOiK09341
OMAiVGDIMNM
OrthoDBiEOG091G0P1V
PhylomeDBiP28360
TreeFamiTF350699

Enzyme and pathway databases

SignaLinkiP28360
SIGNORiP28360

Miscellaneous databases

ChiTaRSiMSX1 human
GeneWikiiMSX1
GenomeRNAii4487
PROiPR:P28360
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163132 Expressed in 190 organ(s), highest expression level in endometrium
CleanExiHS_MSX1
GenevisibleiP28360 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
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
ProtoNetiSearch...

Entry informationi

Entry nameiMSX1_HUMAN
AccessioniPrimary (citable) accession number: P28360
Secondary accession number(s): A0SZU5, A8K3M1, Q96NY4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: November 13, 2013
Last modified: November 7, 2018
This is version 200 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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