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Protein

Homeobox protein MSX-1

Gene

MSX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Regions

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

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163132-MONOMER.
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

HGNCiHGNC:7391. MSX1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: BHF-UCL
Complete GO annotation...

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 rs121913130dbSNPEnsembl.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant rs121913129dbSNPEnsembl.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.

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 rs28928890dbSNPEnsembl.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 rs759548721dbSNPEnsembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant rs28933081dbSNPEnsembl.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant rs150284621dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNETi4487.
MalaCardsiMSX1.
MIMi106600. phenotype.
189500. phenotype.
608874. phenotype.
OpenTargetsiENSG00000163132.
Orphaneti199306. Cleft lip/palate.
2227. Hypodontia.
2228. Hypodontia - dysplasia of nails.
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.

PTM databases

iPTMnetiP28360.
PhosphoSitePlusiP28360.

Expressioni

Tissue specificityi

Expressed in the developing nail bed mesenchyme.1 Publication

Gene expression databases

BgeeiENSG00000163132.
CleanExiHS_MSX1.
GenevisibleiP28360. HS.

Organism-specific databases

HPAiCAB026198.
HPA049277.

Interactioni

GO - Molecular functioni

  • p53 binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi110593. 14 interactors.
IntActiP28360. 4 interactors.
MINTiMINT-6611751.
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
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0492. Eukaryota.
ENOG410YT2J. LUCA.
GeneTreeiENSGT00860000133666.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP28360.
KOiK09341.
OMAiEKQERTP.
OrthoDBiEOG091G0P1V.
PhylomeDBiP28360.
TreeFamiTF350699.

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]

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 rs121913130dbSNPEnsembl.1
Natural variantiVAR_01839184E → V in OFC5; cleft palate only. 1 PublicationCorresponds to variant rs28928890dbSNPEnsembl.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 rs759548721dbSNPEnsembl.1
Natural variantiVAR_018394122G → E in OFC5; bilateral cleft palate. 1 PublicationCorresponds to variant rs28933081dbSNPEnsembl.1
Natural variantiVAR_018395157R → S in OFC5; unilateral cleft palate. 2 PublicationsCorresponds to variant rs150284621dbSNPEnsembl.1
Natural variantiVAR_003754202R → P in STHAG1. 1 PublicationCorresponds to variant rs121913129dbSNPEnsembl.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.

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.
IntActiP28360. 4 interactors.
MINTiMINT-6611751.
STRINGi9606.ENSP00000372170.

PTM databases

iPTMnetiP28360.
PhosphoSitePlusiP28360.

Polymorphism and mutation databases

BioMutaiMSX1.
DMDMi557952603.

Proteomic databases

MaxQBiP28360.
PaxDbiP28360.
PeptideAtlasiP28360.
PRIDEiP28360.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4487.
DisGeNETi4487.
GeneCardsiMSX1.
HGNCiHGNC:7391. MSX1.
HPAiCAB026198.
HPA049277.
MalaCardsiMSX1.
MIMi106600. phenotype.
142983. gene.
189500. phenotype.
608874. phenotype.
neXtProtiNX_P28360.
OpenTargetsiENSG00000163132.
Orphaneti199306. Cleft lip/palate.
2227. Hypodontia.
2228. Hypodontia - dysplasia of nails.
99798. Oligodontia.
PharmGKBiPA31196.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0492. Eukaryota.
ENOG410YT2J. LUCA.
GeneTreeiENSGT00860000133666.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP28360.
KOiK09341.
OMAiEKQERTP.
OrthoDBiEOG091G0P1V.
PhylomeDBiP28360.
TreeFamiTF350699.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000163132-MONOMER.
SignaLinkiP28360.
SIGNORiP28360.

Miscellaneous databases

ChiTaRSiMSX1. human.
GeneWikiiMSX1.
GenomeRNAii4487.
PROiP28360.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163132.
CleanExiHS_MSX1.
GenevisibleiP28360. 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...

Entry informationi

Entry nameiMSX1_HUMAN
AccessioniPrimary (citable) accession number: P28360
Secondary accession number(s): A0SZU5, A8K3M1, Q96NY4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: November 13, 2013
Last modified: November 30, 2016
This is version 184 of the entry and version 3 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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.