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P28360

- MSX1_HUMAN

UniProt

P28360 - MSX1_HUMAN

Protein

Homeobox protein MSX-1

Gene

MSX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 162 (01 Oct 2014)
      Sequence version 3 (13 Nov 2013)
      Previous versions | rss
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    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 transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: Ensembl
    4. sequence-specific DNA binding 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 from RNA polymerase II promoter Source: Ensembl
    24. negative regulation of transcription regulatory region DNA binding Source: Ensembl
    25. odontogenesis of dentin-containing tooth Source: BHF-UCL
    26. palate development Source: Ensembl
    27. pituitary gland development Source: Ensembl
    28. positive regulation of BMP signaling pathway Source: Ensembl
    29. positive regulation of DNA damage response, signal transduction by p53 class mediator Source: BHF-UCL
    30. positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator Source: BHF-UCL
    31. positive regulation of mesenchymal cell apoptotic process Source: Ensembl
    32. protein localization to nucleus Source: BHF-UCL
    33. protein stabilization Source: BHF-UCL
    34. regulation of odontogenesis Source: Ensembl
    35. signal transduction involved in regulation of gene expression Source: Ensembl

    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

    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

    ArrayExpressiP28360.
    BgeeiP28360.
    CleanExiHS_MSX1.
    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.
    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

    MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA    50
    KPKVSPSLLP FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP 100
    GSLGAPDAPS SPRPLGHFSV GGLLKLPEDA LVKAESPEKP ERTPWMQSPR 150
    FSPPPARRLS PPACTLRKHK TNRKPRTPFT TAQLLALERK FRQKQYLSIA 200
    ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM AAKPMLPPAA 250
    FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY 300
    HLT 303
    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.
    The sequence AAA58665.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH67353.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAL17870.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence ABK81117.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAF83325.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    HOGENOMi HOG000231922.
    HOVERGENi HBG005205.
    InParanoidi P28360.
    KOi K09341.
    OMAi EKQERTP.
    OrthoDBi EOG70GMGK.
    PhylomeDBi P28360.
    TreeFami TF350699.

    Enzyme and pathway databases

    SignaLinki P28360.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi P28360.
    Bgeei P28360.
    CleanExi HS_MSX1.
    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

    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: October 1, 2014
    This is version 162 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