MSX1_HUMAN
ID MSX1_HUMAN Reviewed; 303 AA.
AC P28360; A0SZU5; A8K3M1; Q96NY4;
DT 01-DEC-1992, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2013, sequence version 3.
DT 03-AUG-2022, entry version 222.
DE RecName: Full=Homeobox protein MSX-1;
DE AltName: Full=Homeobox protein Hox-7;
DE AltName: Full=Msh homeobox 1-like protein;
GN Name=MSX1; Synonyms=HOX7;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Lymphocyte;
RX PubMed=1685479; DOI=10.1016/0888-7543(91)90074-o;
RA Hewitt J.E., Clarke L.E., Iven A., Williamson R.;
RT "Structure and sequence of the human homeobox gene HOX7.";
RL Genomics 11:670-678(1991).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Ectomesenchyme;
RX PubMed=1284527; DOI=10.1093/hmg/1.6.407;
RA Padanilam B.J., Stadler S.H., Mills K.A., McLeod L.B., Solursh M.,
RA Lee B.M., Ramirez F., Buetow K.H., Murray J.C.;
RT "Characterization of the human HOX 7 cDNA and identification of polymorphic
RT markers.";
RL Hum. Mol. Genet. 1:407-410(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND VARIANTS OFC5 VAL-84;
RP ASP-97; GLY-120; GLU-122 AND SER-157.
RX PubMed=12807959; DOI=10.1136/jmg.40.6.399;
RA Jezewski P.A., Vieira A.R., Nishimura C., Ludwig B., Johnson M.,
RA O'Brien S.E., Daack-Hirsch S., Schultz R.E., Weber A., Nepomucena B.,
RA Romitti P.A., Christensen K., Orioli I.M., Castilla E.E., Machida J.,
RA Natsume N., Murray J.C.;
RT "Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and
RT palate.";
RL J. Med. Genet. 40:399-407(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT SER-157.
RC TISSUE=Embryo;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Neuroblastoma, and Pancreatic carcinoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-156.
RA Prasad S., Shama Rao K., Mukhyopadhyay A.;
RT "Single nucleotide polymorphism analysis of the MSX1 gene within Indian
RT population for cleft lip and palate.";
RL Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 191-251, AND INVOLVEMENT IN
RP WOLF-HIRSCHHORN SYNDROME.
RX PubMed=1969845; DOI=10.1007/bf00195823;
RA Ivens A., Flavin N., Williamson R., Dixon M., Bates G., Buckingham M.,
RA Robert B.;
RT "The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be
RT implicated in Wolf-Hirschhorn syndrome.";
RL Hum. Genet. 84:473-476(1990).
RN [9]
RP FUNCTION, TISSUE SPECIFICITY, AND INVOLVEMENT IN ECTD3.
RX PubMed=11369996; DOI=10.1086/321271;
RA Jumlongras D., Bei M., Stimson J.M., Wang W.-F., DePalma S.R.,
RA Seidman C.E., Felbor U., Maas R., Seidman J.G., Olsen B.R.;
RT "A nonsense mutation in MSX1 causes Witkop syndrome.";
RL Am. J. Hum. Genet. 69:67-74(2001).
RN [10]
RP VARIANT STHAG1 PRO-202.
RX PubMed=8696335; DOI=10.1038/ng0896-417;
RA Vastardis H., Karimbux N., Guthua S.W., Seidman J.G., Seidman C.E.;
RT "A human MSX1 homeodomain missense mutation causes selective tooth
RT agenesis.";
RL Nat. Genet. 13:417-421(1996).
RN [11]
RP VARIANT STHAG1 LYS-67.
RX PubMed=12097313; DOI=10.1177/154405910208100410;
RA Lidral A.C., Reising B.C.;
RT "The role of MSX1 in human tooth agenesis.";
RL J. Dent. Res. 81:274-278(2002).
CC -!- FUNCTION: Acts as a transcriptional repressor. May play a role in limb-
CC pattern formation. Acts in cranofacial development and specifically in
CC odontogenesis. Expression in the developing nail bed mesenchyme is
CC important for nail plate thickness and integrity.
CC {ECO:0000269|PubMed:11369996, ECO:0000269|PubMed:12807959}.
CC -!- INTERACTION:
CC P28360; Q93062-3: RBPMS; NbExp=3; IntAct=EBI-3919342, EBI-740343;
CC -!- SUBCELLULAR LOCATION: Nucleus.
CC -!- TISSUE SPECIFICITY: Expressed in the developing nail bed mesenchyme.
CC {ECO:0000269|PubMed:11369996}.
CC -!- PTM: Sumoylated by PIAS1, desumoylated by SENP1. {ECO:0000250}.
CC -!- DISEASE: Tooth agenesis, selective, 1 (STHAG1) [MIM:106600]: A form of
CC selective tooth agenesis, a common anomaly characterized by the
CC congenital absence of one or more teeth. Selective tooth agenesis
CC without associated systemic disorders has sometimes been divided into 2
CC types: oligodontia, defined as agenesis of 6 or more permanent teeth,
CC and hypodontia, defined as agenesis of less than 6 teeth. The number in
CC both cases does not include absence of third molars (wisdom teeth).
CC STHAG1 can be associated with orofacial cleft in some patients.
CC {ECO:0000269|PubMed:12097313, ECO:0000269|PubMed:8696335}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Note=MSX1 is deleted in some patients with Wolf-Hirschhorn
CC syndrome (WHS). WHS results from sub-telomeric deletions in the short
CC arm of chromosome 4. {ECO:0000305|PubMed:1969845}.
CC -!- DISEASE: Ectodermal dysplasia 3, Witkop type (ECTD3) [MIM:189500]: A
CC form of ectodermal dysplasia, a heterogeneous group of disorders due to
CC abnormal development of two or more ectodermal structures such as hair,
CC teeth, nails and sweat glands, with or without any additional clinical
CC sign. Each combination of clinical features represents a different type
CC of ectodermal dysplasia. ECTD3 is characterized by abnormalities
CC largely limited largely to teeth (some of which are missing) and nails
CC (which are poorly formed early in life, especially toenails). This
CC condition is distinguished from anhidrotic ectodermal dysplasia by
CC autosomal dominant inheritance and little involvement of hair and sweat
CC glands. The teeth are not as severely affected.
CC {ECO:0000269|PubMed:11369996}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Non-syndromic orofacial cleft 5 (OFC5) [MIM:608874]: A birth
CC defect consisting of cleft lips with or without cleft palate. Cleft
CC lips are associated with cleft palate in two-third of cases. A cleft
CC lip can occur on one or both sides and range in severity from a simple
CC notch in the upper lip to a complete opening in the lip extending into
CC the floor of the nostril and involving the upper gum.
CC {ECO:0000269|PubMed:12807959}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the Msh homeobox family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-7 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA52683.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAA58665.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH67353.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAL17870.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=ABK81117.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAF83325.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; M76732; AAA58665.1; ALT_INIT; Genomic_DNA.
DR EMBL; M76731; AAA58665.1; JOINED; Genomic_DNA.
DR EMBL; M97676; AAA52683.1; ALT_INIT; mRNA.
DR EMBL; AF426432; AAL17870.1; ALT_INIT; Genomic_DNA.
DR EMBL; AK290636; BAF83325.1; ALT_INIT; mRNA.
DR EMBL; AC092437; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC021285; AAH21285.4; -; mRNA.
DR EMBL; BC067353; AAH67353.1; ALT_INIT; mRNA.
DR EMBL; EF065625; ABK81117.1; ALT_INIT; Genomic_DNA.
DR CCDS; CCDS3378.2; -.
DR PIR; A40560; A40560.
DR PIR; I54320; I54320.
DR RefSeq; NP_002439.2; NM_002448.3.
DR AlphaFoldDB; P28360; -.
DR SMR; P28360; -.
DR BioGRID; 110593; 16.
DR CORUM; P28360; -.
DR IntAct; P28360; 7.
DR MINT; P28360; -.
DR STRING; 9606.ENSP00000372170; -.
DR iPTMnet; P28360; -.
DR PhosphoSitePlus; P28360; -.
DR BioMuta; MSX1; -.
DR DMDM; 557952603; -.
DR jPOST; P28360; -.
DR MassIVE; P28360; -.
DR MaxQB; P28360; -.
DR PaxDb; P28360; -.
DR PeptideAtlas; P28360; -.
DR PRIDE; P28360; -.
DR ProteomicsDB; 54482; -.
DR Antibodypedia; 9270; 396 antibodies from 41 providers.
DR DNASU; 4487; -.
DR Ensembl; ENST00000382723.5; ENSP00000372170.4; ENSG00000163132.8.
DR GeneID; 4487; -.
DR KEGG; hsa:4487; -.
DR MANE-Select; ENST00000382723.5; ENSP00000372170.4; NM_002448.3; NP_002439.2.
DR UCSC; uc003gif.4; human.
DR CTD; 4487; -.
DR DisGeNET; 4487; -.
DR GeneCards; MSX1; -.
DR HGNC; HGNC:7391; MSX1.
DR HPA; ENSG00000163132; Tissue enhanced (cervix, choroid plexus).
DR MalaCards; MSX1; -.
DR MIM; 106600; phenotype.
DR MIM; 142983; gene.
DR MIM; 189500; phenotype.
DR MIM; 608874; phenotype.
DR neXtProt; NX_P28360; -.
DR OpenTargets; ENSG00000163132; -.
DR Orphanet; 141291; Cleft lip and alveolus.
DR Orphanet; 199306; Cleft lip/palate.
DR Orphanet; 2228; Hypodontia-dysplasia of nails syndrome.
DR Orphanet; 199302; Isolated cleft lip.
DR Orphanet; 2227; NON RARE IN EUROPE: Hypodontia.
DR Orphanet; 99798; Oligodontia.
DR PharmGKB; PA31196; -.
DR VEuPathDB; HostDB:ENSG00000163132; -.
DR eggNOG; KOG0492; Eukaryota.
DR GeneTree; ENSGT00940000161623; -.
DR HOGENOM; CLU_072675_1_0_1; -.
DR InParanoid; P28360; -.
DR OMA; MQTPRFS; -.
DR OrthoDB; 1226077at2759; -.
DR PhylomeDB; P28360; -.
DR TreeFam; TF350699; -.
DR PathwayCommons; P28360; -.
DR SignaLink; P28360; -.
DR SIGNOR; P28360; -.
DR BioGRID-ORCS; 4487; 13 hits in 1104 CRISPR screens.
DR ChiTaRS; MSX1; human.
DR GeneWiki; MSX1; -.
DR GenomeRNAi; 4487; -.
DR Pharos; P28360; Tbio.
DR PRO; PR:P28360; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; P28360; protein.
DR Bgee; ENSG00000163132; Expressed in buccal mucosa cell and 160 other tissues.
DR Genevisible; P28360; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0002039; F:p53 binding; IPI:BHF-UCL.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0090427; P:activation of meiosis; IEA:Ensembl.
DR GO; GO:0009952; P:anterior/posterior pattern specification; IEA:Ensembl.
DR GO; GO:0061312; P:BMP signaling pathway involved in heart development; IEA:Ensembl.
DR GO; GO:0060349; P:bone morphogenesis; IEA:Ensembl.
DR GO; GO:0003161; P:cardiac conduction system development; NAS:BHF-UCL.
DR GO; GO:0060536; P:cartilage morphogenesis; IEA:Ensembl.
DR GO; GO:0000902; P:cell morphogenesis; IDA:BHF-UCL.
DR GO; GO:0035115; P:embryonic forelimb morphogenesis; IEA:Ensembl.
DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl.
DR GO; GO:0048598; P:embryonic morphogenesis; IBA:GO_Central.
DR GO; GO:0035880; P:embryonic nail plate morphogenesis; IMP:BHF-UCL.
DR GO; GO:0003198; P:epithelial to mesenchymal transition involved in endocardial cushion formation; IEA:Ensembl.
DR GO; GO:0060325; P:face morphogenesis; IMP:BHF-UCL.
DR GO; GO:0030900; P:forebrain development; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0061180; P:mammary gland epithelium development; IEA:Ensembl.
DR GO; GO:0097152; P:mesenchymal cell apoptotic process; IEA:Ensembl.
DR GO; GO:0010463; P:mesenchymal cell proliferation; IEA:Ensembl.
DR GO; GO:0030901; P:midbrain development; IEA:Ensembl.
DR GO; GO:0042474; P:middle ear morphogenesis; IEA:Ensembl.
DR GO; GO:0007517; P:muscle organ development; IEA:Ensembl.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:Ensembl.
DR GO; GO:0030308; P:negative regulation of cell growth; IDA:BHF-UCL.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0051154; P:negative regulation of striated muscle cell differentiation; IEA:Ensembl.
DR GO; GO:2000678; P:negative regulation of transcription regulatory region DNA binding; IEA:Ensembl.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IMP:BHF-UCL.
DR GO; GO:0030513; P:positive regulation of BMP signaling pathway; IEA:Ensembl.
DR GO; GO:0043517; P:positive regulation of DNA damage response, signal transduction by p53 class mediator; IC:BHF-UCL.
DR GO; GO:1902255; P:positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator; IDA:BHF-UCL.
DR GO; GO:2001055; P:positive regulation of mesenchymal cell apoptotic process; IEA:Ensembl.
DR GO; GO:0034504; P:protein localization to nucleus; IDA:BHF-UCL.
DR GO; GO:0050821; P:protein stabilization; IDA:BHF-UCL.
DR GO; GO:0042481; P:regulation of odontogenesis; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0023019; P:signal transduction involved in regulation of gene expression; IEA:Ensembl.
DR GO; GO:0048863; P:stem cell differentiation; IEA:Ensembl.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Disease variant; DNA-binding; Ectodermal dysplasia;
KW Homeobox; Isopeptide bond; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation; Ubl conjugation.
FT CHAIN 1..303
FT /note="Homeobox protein MSX-1"
FT /id="PRO_0000049086"
FT DNA_BIND 172..231
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 18..55
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 69..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 133..174
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CROSSLNK 15
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO)"
FT /evidence="ECO:0000250"
FT CROSSLNK 133
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO)"
FT /evidence="ECO:0000250"
FT VARIANT 67
FT /note="M -> K (in STHAG1; dbSNP:rs121913130)"
FT /evidence="ECO:0000269|PubMed:12097313"
FT /id="VAR_015712"
FT VARIANT 84
FT /note="E -> V (in OFC5; cleft palate only;
FT dbSNP:rs28928890)"
FT /evidence="ECO:0000269|PubMed:12807959"
FT /id="VAR_018391"
FT VARIANT 97
FT /note="G -> D (in OFC5; cleft palate only)"
FT /evidence="ECO:0000269|PubMed:12807959"
FT /id="VAR_018392"
FT VARIANT 120
FT /note="V -> G (in OFC5; cleft palate only;
FT dbSNP:rs759548721)"
FT /evidence="ECO:0000269|PubMed:12807959"
FT /id="VAR_018393"
FT VARIANT 122
FT /note="G -> E (in OFC5; bilateral cleft palate;
FT dbSNP:rs28933081)"
FT /evidence="ECO:0000269|PubMed:12807959"
FT /id="VAR_018394"
FT VARIANT 157
FT /note="R -> S (in OFC5; unilateral cleft palate;
FT dbSNP:rs150284621)"
FT /evidence="ECO:0000269|PubMed:12807959,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_018395"
FT VARIANT 202
FT /note="R -> P (in STHAG1; dbSNP:rs121913129)"
FT /evidence="ECO:0000269|PubMed:8696335"
FT /id="VAR_003754"
FT CONFLICT 28
FT /note="G -> D (in Ref. 4; BAF83325)"
FT /evidence="ECO:0000305"
FT CONFLICT 45
FT /note="A -> T (in Ref. 2; AAA58665)"
FT /evidence="ECO:0000305"
FT CONFLICT 97..99
FT /note="GVP -> ASR (in Ref. 2; AAA58665)"
FT /evidence="ECO:0000305"
FT CONFLICT 146
FT /note="M -> T (in Ref. 4; BAF83325)"
FT /evidence="ECO:0000305"
FT CONFLICT 222
FT /note="N -> S (in Ref. 4; BAF83325)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 303 AA; 31496 MW; 1B5F01B35920E64F CRC64;
MAPAADMTSL PLGVKVEDSA FGKPAGGGAG QAPSAAAATA AAMGADEEGA KPKVSPSLLP
FSVEALMADH RKPGAKESAL APSEGVQAAG GSAQPLGVPP GSLGAPDAPS SPRPLGHFSV
GGLLKLPEDA LVKAESPEKP ERTPWMQSPR FSPPPARRLS PPACTLRKHK TNRKPRTPFT
TAQLLALERK FRQKQYLSIA ERAEFSSSLS LTETQVKIWF QNRRAKAKRL QEAELEKLKM
AAKPMLPPAA FGLSFPLGGP AAVAAAAGAS LYGASGPFQR AALPVAPVGL YTAHVGYSMY
HLT
