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P28360

- MSX1_HUMAN

UniProt

P28360 - MSX1_HUMAN

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Protein

Homeobox protein MSX-1

Gene

MSX1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi172 – 23160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. p53 binding Source: BHF-UCL
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity Source: Ensembl
  3. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
  4. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  5. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl

GO - Biological processi

  1. activation of meiosis Source: Ensembl
  2. anterior/posterior pattern specification Source: Ensembl
  3. BMP signaling pathway involved in heart development Source: Ensembl
  4. bone morphogenesis Source: Ensembl
  5. cartilage morphogenesis Source: Ensembl
  6. cell morphogenesis Source: BHF-UCL
  7. cellular response to nicotine Source: Ensembl
  8. embryonic forelimb morphogenesis Source: Ensembl
  9. embryonic hindlimb morphogenesis Source: Ensembl
  10. embryonic nail plate morphogenesis Source: BHF-UCL
  11. epithelial to mesenchymal transition involved in endocardial cushion formation Source: Ensembl
  12. face morphogenesis Source: BHF-UCL
  13. in utero embryonic development Source: Ensembl
  14. mammary gland epithelium development Source: Ensembl
  15. mesenchymal cell proliferation Source: Ensembl
  16. midbrain development Source: Ensembl
  17. middle ear morphogenesis Source: Ensembl
  18. muscle organ development Source: Ensembl
  19. negative regulation of apoptotic process Source: Ensembl
  20. negative regulation of cell growth Source: BHF-UCL
  21. negative regulation of cell proliferation Source: Ensembl
  22. negative regulation of striated muscle cell differentiation Source: Ensembl
  23. negative regulation of transcription regulatory region DNA binding Source: Ensembl
  24. odontogenesis of dentin-containing tooth Source: BHF-UCL
  25. palate development Source: Ensembl
  26. pituitary gland development Source: Ensembl
  27. positive regulation of BMP signaling pathway Source: Ensembl
  28. positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
  29. positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator Source: BHF-UCL
  30. positive regulation of mesenchymal cell apoptotic process Source: Ensembl
  31. protein localization to nucleus Source: BHF-UCL
  32. protein stabilization Source: BHF-UCL
  33. regulation of odontogenesis Source: Ensembl
  34. signal transduction involved in regulation of gene expression Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein, Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiP28360.

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:7391. MSX1.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleus Source: BHF-UCL
  3. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Tooth agenesis selective 1 (STHAG1) [MIM:106600]: A 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). Tooth agenesis selective type 1 can be associated with orofacial cleft in some patients.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671M → K in STHAG1. 1 Publication
VAR_015712
Natural varianti202 – 2021R → P in STHAG1; severely impairs DNA-binding. 1 Publication
VAR_003754
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) [MIM:189500]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti84 – 841E → V in OFC5; cleft palate only. 1 Publication
VAR_018391
Natural varianti97 – 971G → D in OFC5; cleft palate only. 1 Publication
VAR_018392
Natural varianti120 – 1201V → G in OFC5; cleft palate only. 1 Publication
VAR_018393
Natural varianti122 – 1221G → E in OFC5; bilateral cleft palate. 1 Publication
Corresponds to variant rs28933081 [ dbSNP | Ensembl ].
VAR_018394
Natural varianti157 – 1571R → S in OFC5; unilateral cleft palate. 2 Publications
VAR_018395

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

MIMi106600. phenotype.
189500. phenotype.
608874. phenotype.
Orphaneti199306. Cleft lip/palate.
2227. Hypodontia.
2228. Hypodontia - dysplasia of nails.
99798. Oligodontia.
PharmGKBiPA31196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 303303Homeobox protein MSX-1PRO_0000049086Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Cross-linki15 – 15Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki133 – 133Glycyl 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.
PRIDEiP28360.

PTM databases

PhosphoSiteiP28360.

Expressioni

Tissue specificityi

Expressed in the developing nail bed mesenchyme.1 Publication

Gene expression databases

BgeeiP28360.
CleanExiHS_MSX1.
ExpressionAtlasiP28360. baseline and differential.
GenevestigatoriP28360.

Organism-specific databases

HPAiCAB026198.
HPA049277.

Interactioni

Protein-protein interaction databases

BioGridi110593. 15 interactions.
IntActiP28360. 4 interactions.
MINTiMINT-6611751.
STRINGi9606.ENSP00000372170.

Structurei

3D structure databases

ProteinModelPortaliP28360.
SMRiP28360. Positions 173-230.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi35 – 428Poly-Ala
Compositional biasi261 – 2699Poly-Ala

Sequence similaritiesi

Belongs to the Msh homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG298790.
GeneTreeiENSGT00770000120486.
HOGENOMiHOG000231922.
HOVERGENiHBG005205.
InParanoidiP28360.
KOiK09341.
OMAiEKQERTP.
OrthoDBiEOG70GMGK.
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 AAA52683.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAA58665.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH67353.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAL17870.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence ABK81117.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAF83325.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281G → D in BAF83325. (PubMed:14702039)Curated
Sequence conflicti45 – 451A → T in AAA58665. (PubMed:1284527)Curated
Sequence conflicti97 – 993GVP → ASR in AAA58665. (PubMed:1284527)Curated
Sequence conflicti146 – 1461M → T in BAF83325. (PubMed:14702039)Curated
Sequence conflicti222 – 2221N → S in BAF83325. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671M → K in STHAG1. 1 Publication
VAR_015712
Natural varianti84 – 841E → V in OFC5; cleft palate only. 1 Publication
VAR_018391
Natural varianti97 – 971G → D in OFC5; cleft palate only. 1 Publication
VAR_018392
Natural varianti120 – 1201V → G in OFC5; cleft palate only. 1 Publication
VAR_018393
Natural varianti122 – 1221G → E in OFC5; bilateral cleft palate. 1 Publication
Corresponds to variant rs28933081 [ dbSNP | Ensembl ].
VAR_018394
Natural varianti157 – 1571R → S in OFC5; unilateral cleft palate. 2 Publications
VAR_018395
Natural varianti202 – 2021R → P in STHAG1; severely impairs DNA-binding. 1 Publication
VAR_003754

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.3. human.

Polymorphism databases

DMDMi557952603.

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.
CCDSi CCDS3378.2.
PIRi A40560.
I54320.
RefSeqi NP_002439.2. NM_002448.3.
UniGenei Hs.424414.

3D structure databases

ProteinModelPortali P28360.
SMRi P28360. Positions 173-230.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110593. 15 interactions.
IntActi P28360. 4 interactions.
MINTi MINT-6611751.
STRINGi 9606.ENSP00000372170.

PTM databases

PhosphoSitei P28360.

Polymorphism databases

DMDMi 557952603.

Proteomic databases

MaxQBi P28360.
PaxDbi P28360.
PRIDEi P28360.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000382723 ; ENSP00000372170 ; ENSG00000163132 .
GeneIDi 4487.
KEGGi hsa:4487.
UCSCi uc003gif.3. human.

Organism-specific databases

CTDi 4487.
GeneCardsi GC04P004861.
HGNCi HGNC:7391. MSX1.
HPAi CAB026198.
HPA049277.
MIMi 106600. phenotype.
142983. gene.
189500. phenotype.
608874. phenotype.
neXtProti NX_P28360.
Orphaneti 199306. Cleft lip/palate.
2227. Hypodontia.
2228. Hypodontia - dysplasia of nails.
99798. Oligodontia.
PharmGKBi PA31196.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG298790.
GeneTreei ENSGT00770000120486.
HOGENOMi HOG000231922.
HOVERGENi HBG005205.
InParanoidi P28360.
KOi K09341.
OMAi EKQERTP.
OrthoDBi EOG70GMGK.
PhylomeDBi P28360.
TreeFami TF350699.

Enzyme and pathway databases

SignaLinki P28360.

Miscellaneous databases

ChiTaRSi MSX1. human.
GeneWikii MSX1.
GenomeRNAii 4487.
NextBioi 17359.
PROi P28360.
SOURCEi Search...

Gene expression databases

Bgeei P28360.
CleanExi HS_MSX1.
ExpressionAtlasi P28360. baseline and differential.
Genevestigatori P28360.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Structure and sequence of the human homeobox gene HOX7."
    Hewitt J.E., Clarke L.E., Iven A., Williamson R.
    Genomics 11:670-678(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Lymphocyte.
  2. "Characterization of the human HOX 7 cDNA and identification of polymorphic markers."
    Padanilam B.J., Stadler S.H., Mills K.A., McLeod L.B., Solursh M., Lee B.M., Ramirez F., Buetow K.H., Murray J.C.
    Hum. Mol. Genet. 1:407-410(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Ectomesenchyme.
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, VARIANTS OFC5 VAL-84; ASP-97; GLY-120; GLU-122 AND SER-157.
  4. "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], VARIANT SER-157.
    Tissue: Embryo.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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].
    Tissue: Neuroblastoma and Pancreatic carcinoma.
  7. "Single nucleotide polymorphism analysis of the MSX1 gene within Indian population for cleft lip and palate."
    Prasad S., Shama Rao K., Mukhyopadhyay A.
    Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-156.
  8. "The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome."
    Ivens A., Flavin N., Williamson R., Dixon M., Bates G., Buckingham M., Robert B.
    Hum. Genet. 84:473-476(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-251, INVOLVEMENT IN WOLF-HIRSCHORN SYNDROME.
  9. Cited for: FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN ECTD3.
  10. "A human MSX1 homeodomain missense mutation causes selective tooth agenesis."
    Vastardis H., Karimbux N., Guthua S.W., Seidman J.G., Seidman C.E.
    Nat. Genet. 13:417-421(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT STHAG1 PRO-202.
  11. "The role of MSX1 in human tooth agenesis."
    Lidral A.C., Reising B.C.
    J. Dent. Res. 81:274-278(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT STHAG1 LYS-67.

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 26, 2014
This is version 164 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

External Data

Dasty 3