(data stored in ACNUC23405 zone)

SWISSPROT: MNX1_HUMAN

ID   MNX1_HUMAN              Reviewed;         401 AA.
AC   P50219; F5H401; Q9Y648;
DT   01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
DT   22-SEP-2009, sequence version 3.
DT   07-SEP-2016, entry version 142.
DE   RecName: Full=Motor neuron and pancreas homeobox protein 1;
DE   AltName: Full=Homeobox protein HB9;
GN   Name=MNX1; Synonyms=HLXB9;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RC   TISSUE=Placenta;
RX   PubMed=7914194;
RA   Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H.;
RT   "A novel human homeobox gene distantly related to proboscipedia is
RT   expressed in lymphoid and pancreatic tissues.";
RL   J. Biol. Chem. 269:19968-19975(1994).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
RA   Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
RA   Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
RA   Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
RA   Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
RA   Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
RA   Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
RA   Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
RA   Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
RA   Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
RA   Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
RA   Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
RA   Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
RA   Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
RA   Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
RA   Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
RA   Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
RA   Waterston R.H., Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-353 (ISOFORM 1).
RX   PubMed=10329000; DOI=10.1006/geno.1999.5796;
RA   Heus H.C., Hing A., van Baren M.J., Joosse M., Breedveld G.J.,
RA   Wang J.C., Burgess A., Donnis-Keller H., Berglund C., Zguricas J.,
RA   Scherer S.W., Rommens J.M., Oostra B.A., Heutink P.;
RT   "A physical and transcriptional map of the preaxial polydactyly locus
RT   on chromosome 7q36.";
RL   Genomics 57:342-351(1999).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [5]
RP   ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA   Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA   Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA   Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA   Aldabe R.;
RT   "N-terminal acetylome analyses and functional insights of the N-
RT   terminal acetyltransferase NatB.";
RL   Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77 AND SER-79, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [7]
RP   VARIANTS CURRAS SER-246 AND TRP-293.
RX   PubMed=10631160; DOI=10.1086/302723;
RA   Belloni E., Martucciello G., Verderio D., Ponti E., Seri M.,
RA   Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W.;
RT   "Involvement of the HLXB9 homeobox gene in Currarino syndrome.";
RL   Am. J. Hum. Genet. 66:312-319(2000).
RN   [8]
RP   VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292
RP   AND GLN-293.
RX   PubMed=10749657; DOI=10.1086/302899;
RA   Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V.,
RA   Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P.,
RA   Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M.,
RA   Cordier-Alex M.P., Correia P., Galvin-Parton P.A., Gaskill S.,
RA   Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T.,
RA   McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S.;
RT   "Mutation analysis and embryonic expression of the HLXB9 Currarino
RT   syndrome gene.";
RL   Am. J. Hum. Genet. 66:1504-1515(2000).
RN   [9]
RP   ERRATUM.
RA   Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V.,
RA   Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P.,
RA   Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M.,
RA   Cordier-Alex M.P., Correia P., Galvin-Parton P.A., Gaskill S.,
RA   Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T.,
RA   McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S.;
RL   Am. J. Hum. Genet. 67:769-769(2000).
RN   [10]
RP   VARIANTS CURRAS TRP-243 AND GLY-288.
RX   PubMed=19853743; DOI=10.1016/j.jpedsurg.2009.03.039;
RA   Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W.,
RA   Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K.;
RT   "MNX1 (HLXB9) mutations in Currarino patients.";
RL   J. Pediatr. Surg. 44:1892-1898(2009).
RN   [11]
RP   VARIANT CURRAS SER-289.
RX   PubMed=22820079; DOI=10.1016/j.gene.2012.06.096;
RA   Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T.,
RA   Nordenskjold A.;
RT   "Novel mutations in the MNX1 gene in two families with Currarino
RT   syndrome and variable phenotype.";
RL   Gene 507:50-53(2012).
CC   -!- FUNCTION: Putative transcription factor involved in pancreas
CC       development and function.
CC   -!- SUBCELLULAR LOCATION: Nucleus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=P50219-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P50219-2; Sequence=VSP_046773, VSP_046774;
CC         Note=Gene prediction based on EST data.;
CC   -!- TISSUE SPECIFICITY: Expressed in lymphoid and pancreatic tissues.
CC   -!- DISEASE: Currarino syndrome (CURRAS) [MIM:176450]: The triad of a
CC       presacral tumor, sacral agenesis and anorectal malformation
CC       constitutes the Currarino syndrome which is caused by dorsal-
CC       ventral patterning defects during embryonic development. The
CC       syndrome occurs in the majority of patients as an autosomal
CC       dominant trait. {ECO:0000269|PubMed:10631160,
CC       ECO:0000269|PubMed:10749657, ECO:0000269|PubMed:19853743,
CC       ECO:0000269|PubMed:22820079}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Contains 1 homeobox DNA-binding domain.
CC       {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC   -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC       and Haematology;
CC       URL="http://atlasgeneticsoncology.org/Genes/HLXB9ID393.html";
DR   EMBL; U07664; AAB60647.1; -; Genomic_DNA.
DR   EMBL; U07663; AAB60647.1; JOINED; Genomic_DNA.
DR   EMBL; AC006357; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AH007909; AAD41467.1; -; Genomic_DNA.
DR   CCDS; CCDS34788.1; -. [P50219-1]
DR   CCDS; CCDS55187.1; -. [P50219-2]
DR   RefSeq; NP_001158727.1; NM_001165255.1. [P50219-2]
DR   RefSeq; NP_005506.3; NM_005515.3. [P50219-1]
DR   UniGene; Hs.37035; -.
DR   ProteinModelPortal; P50219; -.
DR   SMR; P50219; 239-300.
DR   BioGrid; 109355; 1.
DR   STRING; 9606.ENSP00000252971; -.
DR   iPTMnet; P50219; -.
DR   PhosphoSite; P50219; -.
DR   BioMuta; MNX1; -.
DR   DMDM; 259016336; -.
DR   MaxQB; P50219; -.
DR   PaxDb; P50219; -.
DR   PeptideAtlas; P50219; -.
DR   PRIDE; P50219; -.
DR   DNASU; 3110; -.
DR   Ensembl; ENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
DR   Ensembl; ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
DR   GeneID; 3110; -.
DR   KEGG; hsa:3110; -.
DR   UCSC; uc003wnc.1; human. [P50219-1]
DR   CTD; 3110; -.
DR   GeneCards; MNX1; -.
DR   H-InvDB; HIX0033536; -.
DR   HGNC; HGNC:4979; MNX1.
DR   HPA; HPA071717; -.
DR   MalaCards; MNX1; -.
DR   MIM; 142994; gene.
DR   MIM; 176450; phenotype.
DR   neXtProt; NX_P50219; -.
DR   Orphanet; 1552; Currarino triad.
DR   PharmGKB; PA162396041; -.
DR   eggNOG; KOG0489; Eukaryota.
DR   eggNOG; ENOG410ZTBY; LUCA.
DR   GeneTree; ENSGT00760000118940; -.
DR   HOGENOM; HOG000234345; -.
DR   HOVERGEN; HBG051910; -.
DR   InParanoid; P50219; -.
DR   KO; K08025; -.
DR   OrthoDB; EOG091G0PFO; -.
DR   PhylomeDB; P50219; -.
DR   TreeFam; TF351530; -.
DR   SIGNOR; P50219; -.
DR   GeneWiki; MNX1; -.
DR   GenomeRNAi; 3110; -.
DR   PRO; PR:P50219; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   Bgee; ENSG00000130675; -.
DR   CleanEx; HS_MNX1; -.
DR   ExpressionAtlas; P50219; baseline and differential.
DR   Genevisible; P50219; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:HPA.
DR   GO; GO:0005730; C:nucleolus; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; IDA:HPA.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
DR   GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
DR   GO; GO:0031018; P:endocrine pancreas development; IBA:GO_Central.
DR   GO; GO:0006959; P:humoral immune response; TAS:ProtInc.
DR   GO; GO:0048812; P:neuron projection morphogenesis; IBA:GO_Central.
DR   GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; TAS:ProtInc.
DR   GO; GO:0021520; P:spinal cord motor neuron cell fate specification; IBA:GO_Central.
DR   GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
DR   Gene3D; 1.10.10.60; -; 1.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR020479; Homeobox_metazoa.
DR   InterPro; IPR009057; Homeodomain-like.
DR   Pfam; PF00046; Homeobox; 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;
DR   PRODOM; P50219.
DR   SWISS-2DPAGE; P50219.
KW   Acetylation; Alternative splicing; Complete proteome;
KW   Disease mutation; DNA-binding; Homeobox; Nucleus; Phosphoprotein;
KW   Reference proteome; Transcription; Transcription regulation.
FT   CHAIN         1    401       Motor neuron and pancreas homeobox
FT                                protein 1.
FT                                /FTId=PRO_0000048905.
FT   DNA_BIND    241    300       Homeobox. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00108}.
FT   COMPBIAS     35     38       Poly-Ala.
FT   COMPBIAS     40     49       Poly-Gly.
FT   COMPBIAS     98    112       Poly-Gly.
FT   COMPBIAS    121    134       Poly-Ala.
FT   COMPBIAS    168    176       Poly-Ala.
FT   COMPBIAS    315    324       Poly-Gly.
FT   MOD_RES       1      1       N-acetylmethionine.
FT                                {ECO:0000244|PubMed:22814378}.
FT   MOD_RES      77     77       Phosphoserine.
FT                                {ECO:0000244|PubMed:23186163}.
FT   MOD_RES      79     79       Phosphoserine.
FT                                {ECO:0000244|PubMed:23186163}.
FT   VAR_SEQ       1    212       Missing (in isoform 2). {ECO:0000305}.
FT                                /FTId=VSP_046773.
FT   VAR_SEQ     213    231       WLRASTAGMILPKMPDFNS -> MGGLSTVGACPGILGAQQ
FT                                A (in isoform 2). {ECO:0000305}.
FT                                /FTId=VSP_046774.
FT   VARIANT     243    243       R -> W (in CURRAS).
FT                                {ECO:0000269|PubMed:19853743}.
FT                                /FTId=VAR_068473.
FT   VARIANT     245    245       R -> G (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017874.
FT   VARIANT     245    245       R -> H (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017875.
FT   VARIANT     246    246       T -> S (in CURRAS; dbSNP:rs121912548).
FT                                {ECO:0000269|PubMed:10631160}.
FT                                /FTId=VAR_017876.
FT   VARIANT     288    288       W -> G (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657,
FT                                ECO:0000269|PubMed:19853743}.
FT                                /FTId=VAR_017877.
FT   VARIANT     288    288       W -> L (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017878.
FT   VARIANT     289    289       F -> S (in CURRAS).
FT                                {ECO:0000269|PubMed:22820079}.
FT                                /FTId=VAR_068474.
FT   VARIANT     290    290       Q -> P (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017879.
FT   VARIANT     292    292       R -> W (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017880.
FT   VARIANT     293    293       R -> Q (in CURRAS).
FT                                {ECO:0000269|PubMed:10749657}.
FT                                /FTId=VAR_017881.
FT   VARIANT     293    293       R -> W (in CURRAS).
FT                                {ECO:0000269|PubMed:10631160}.
FT                                /FTId=VAR_017882.
FT   CONFLICT     10     37       DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH
FT                                EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).
FT                                {ECO:0000305}.
FT   CONFLICT    121    121       A -> AAA (in Ref. 1; AAB60647).
FT                                {ECO:0000305}.
FT   CONFLICT    121    121       A -> ARA (in Ref. 3; AAD41467).
FT                                {ECO:0000305}.
FT   CONFLICT    262    262       L -> F (in Ref. 1; AAB60647).
FT                                {ECO:0000305}.
FT   CONFLICT    340    340       G -> R (in Ref. 1; AAB60647).
FT                                {ECO:0000305}.
FT   CONFLICT    346    349       RRLR -> PPA (in Ref. 1; AAB60647).
FT                                {ECO:0000305}.
SQ   SEQUENCE   401 AA;  40569 MW;  67527C8F789DFFDB CRC64;
     MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA SGGTSGSCSP
     ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG GGGGGTGGGH GGPHHHAHPG
     AAAAAAAAAA AAAAGGLALG LHPGGAQGGA GLPAQAALYG HPVYGYSAAA AAAALAGQHP
     ALSYSYPQVQ GAHPAHPADP IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK
     CRRPRTAFTS QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK
     KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD LRDSDPEEDE
     DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP Q
//

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