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 03-AUG-2022, entry version 180.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=7914194; DOI=10.1016/s0021-9258(17)32115-4;
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., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., 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., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA 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., Wang J.C.,
RA Burgess A., Donnis-Keller H., Berglund C., Zguricas J., Scherer S.W.,
RA Rommens J.M., Oostra B.A., Heutink P.;
RT "A physical and transcriptional map of the preaxial polydactyly locus on
RT 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 MASS
RP 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., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT 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., Jasonni V.,
RA 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 AND
RP GLN-293.
RX PubMed=10749657; DOI=10.1086/302899;
RA Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M.,
RA Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C.,
RA Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P.,
RA Correia P., Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S.,
RA Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H.,
RA Shannon N., Spitz L., Lindsay S.;
RT "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome
RT gene.";
RL Am. J. Hum. Genet. 66:1504-1515(2000).
RN [9]
RP ERRATUM OF PUBMED:10749657.
RA Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V., Wang Y.M.,
RA Scambler P., Custard E., Reardon W., Hassan S., Nixon P., Papapetrou C.,
RA Winter R.M., Edwards Y., Morrison K., Barrow M., Cordier-Alex M.P.,
RA Correia P., Galvin-Parton P.A., Gaskill S., Gaskin K.J., Garcia-Minaur S.,
RA Gereige R., Hayward R., Homfray T., McKeown C., Murday V., Plauchu H.,
RA 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 syndrome
RT 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 -!- 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 constitutes
CC the Currarino syndrome which is caused by dorsal-ventral patterning
CC defects during embryonic development. The syndrome occurs in the
CC majority of patients as an autosomal dominant trait.
CC {ECO:0000269|PubMed:10631160, ECO:0000269|PubMed:10749657,
CC ECO:0000269|PubMed:19853743, ECO:0000269|PubMed:22820079}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/HLXB9ID393.html";
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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 AlphaFoldDB; P50219; -.
DR SMR; P50219; -.
DR BioGRID; 109355; 26.
DR IntAct; P50219; 22.
DR STRING; 9606.ENSP00000252971; -.
DR iPTMnet; P50219; -.
DR PhosphoSitePlus; P50219; -.
DR BioMuta; MNX1; -.
DR DMDM; 259016336; -.
DR EPD; P50219; -.
DR jPOST; P50219; -.
DR MassIVE; P50219; -.
DR MaxQB; P50219; -.
DR PaxDb; P50219; -.
DR PeptideAtlas; P50219; -.
DR PRIDE; P50219; -.
DR ProteomicsDB; 26426; -.
DR ProteomicsDB; 56203; -. [P50219-1]
DR Antibodypedia; 33173; 222 antibodies from 35 providers.
DR DNASU; 3110; -.
DR Ensembl; ENST00000252971.11; ENSP00000252971.5; ENSG00000130675.15. [P50219-1]
DR Ensembl; ENST00000543409.5; ENSP00000438552.1; ENSG00000130675.15. [P50219-2]
DR GeneID; 3110; -.
DR KEGG; hsa:3110; -.
DR MANE-Select; ENST00000252971.11; ENSP00000252971.5; NM_005515.4; NP_005506.3.
DR UCSC; uc003wnc.1; human. [P50219-1]
DR CTD; 3110; -.
DR DisGeNET; 3110; -.
DR GeneCards; MNX1; -.
DR HGNC; HGNC:4979; MNX1.
DR HPA; ENSG00000130675; Group enriched (intestine, pancreas).
DR MalaCards; MNX1; -.
DR MIM; 142994; gene.
DR MIM; 176450; phenotype.
DR neXtProt; NX_P50219; -.
DR OpenTargets; ENSG00000130675; -.
DR Orphanet; 1552; Currarino syndrome.
DR PharmGKB; PA162396041; -.
DR VEuPathDB; HostDB:ENSG00000130675; -.
DR eggNOG; KOG0489; Eukaryota.
DR GeneTree; ENSGT00940000160059; -.
DR HOGENOM; CLU_049543_4_0_1; -.
DR InParanoid; P50219; -.
DR OMA; YHAKTDS; -.
DR OrthoDB; 1327265at2759; -.
DR PhylomeDB; P50219; -.
DR TreeFam; TF351530; -.
DR PathwayCommons; P50219; -.
DR SignaLink; P50219; -.
DR SIGNOR; P50219; -.
DR BioGRID-ORCS; 3110; 19 hits in 1102 CRISPR screens.
DR GeneWiki; MNX1; -.
DR GenomeRNAi; 3110; -.
DR Pharos; P50219; Tbio.
DR PRO; PR:P50219; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P50219; protein.
DR Bgee; ENSG00000130675; Expressed in body of pancreas and 109 other tissues.
DR ExpressionAtlas; P50219; baseline and differential.
DR Genevisible; P50219; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0031018; P:endocrine pancreas development; IBA:GO_Central.
DR GO; GO:0048812; P:neuron projection morphogenesis; IBA:GO_Central.
DR GO; GO:0021520; P:spinal cord motor neuron cell fate specification; IBA:GO_Central.
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 InterPro; IPR042768; MNX1/Ceh-12.
DR PANTHER; PTHR24335; PTHR24335; 1.
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 Acetylation; Alternative splicing; Disease variant; DNA-binding; Homeobox;
KW Nucleus; Phosphoprotein; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..401
FT /note="Motor neuron and pancreas homeobox protein 1"
FT /id="PRO_0000048905"
FT DNA_BIND 241..300
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 37..78
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 101..120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 299..401
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 374..390
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1
FT /note="N-acetylmethionine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT MOD_RES 77
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 79
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..212
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046773"
FT VAR_SEQ 213..231
FT /note="WLRASTAGMILPKMPDFNS -> MGGLSTVGACPGILGAQQA (in
FT isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_046774"
FT VARIANT 243
FT /note="R -> W (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:19853743"
FT /id="VAR_068473"
FT VARIANT 245
FT /note="R -> G (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017874"
FT VARIANT 245
FT /note="R -> H (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017875"
FT VARIANT 246
FT /note="T -> S (in CURRAS; dbSNP:rs121912548)"
FT /evidence="ECO:0000269|PubMed:10631160"
FT /id="VAR_017876"
FT VARIANT 288
FT /note="W -> G (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657,
FT ECO:0000269|PubMed:19853743"
FT /id="VAR_017877"
FT VARIANT 288
FT /note="W -> L (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017878"
FT VARIANT 289
FT /note="F -> S (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:22820079"
FT /id="VAR_068474"
FT VARIANT 290
FT /note="Q -> P (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017879"
FT VARIANT 292
FT /note="R -> W (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017880"
FT VARIANT 293
FT /note="R -> Q (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10749657"
FT /id="VAR_017881"
FT VARIANT 293
FT /note="R -> W (in CURRAS)"
FT /evidence="ECO:0000269|PubMed:10631160"
FT /id="VAR_017882"
FT CONFLICT 10..37
FT /note="DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPHEPPLAERALAK
FT VTSPPVP (in Ref. 1; AAB60647)"
FT /evidence="ECO:0000305"
FT CONFLICT 121
FT /note="A -> AAA (in Ref. 1; AAB60647)"
FT /evidence="ECO:0000305"
FT CONFLICT 121
FT /note="A -> ARA (in Ref. 3; AAD41467)"
FT /evidence="ECO:0000305"
FT CONFLICT 262
FT /note="L -> F (in Ref. 1; AAB60647)"
FT /evidence="ECO:0000305"
FT CONFLICT 340
FT /note="G -> R (in Ref. 1; AAB60647)"
FT /evidence="ECO:0000305"
FT CONFLICT 346..349
FT /note="RRLR -> PPA (in Ref. 1; AAB60647)"
FT /evidence="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
