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Motor neuron and pancreas homeobox protein 1 (Homeobox protein HB9)

 MNX1_HUMAN              Reviewed;         401 AA.
P50219; F5H401; Q9Y648;
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
22-SEP-2009, sequence version 3.
22-NOV-2017, entry version 151.
RecName: Full=Motor neuron and pancreas homeobox protein 1;
AltName: Full=Homeobox protein HB9;
Name=MNX1; Synonyms=HLXB9;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
TISSUE=Placenta;
PubMed=7914194;
Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H.;
"A novel human homeobox gene distantly related to proboscipedia is
expressed in lymphoid and pancreatic tissues.";
J. Biol. Chem. 269:19968-19975(1994).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-353 (ISOFORM 1).
PubMed=10329000; DOI=10.1006/geno.1999.5796;
Heus H.C., Hing A., van Baren M.J., Joosse M., Breedveld G.J.,
Wang J.C., Burgess A., Donnis-Keller H., Berglund C., Zguricas J.,
Scherer S.W., Rommens J.M., Oostra B.A., Heutink P.;
"A physical and transcriptional map of the preaxial polydactyly locus
on chromosome 7q36.";
Genomics 57:342-351(1999).
[4]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[5]
ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, AND IDENTIFICATION BY
MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=22814378; DOI=10.1073/pnas.1210303109;
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
Aldabe R.;
"N-terminal acetylome analyses and functional insights of the N-
terminal acetyltransferase NatB.";
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
[6]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77 AND SER-79, AND
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[7]
VARIANTS CURRAS SER-246 AND TRP-293.
PubMed=10631160; DOI=10.1086/302723;
Belloni E., Martucciello G., Verderio D., Ponti E., Seri M.,
Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W.;
"Involvement of the HLXB9 homeobox gene in Currarino syndrome.";
Am. J. Hum. Genet. 66:312-319(2000).
[8]
VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292
AND GLN-293.
PubMed=10749657; DOI=10.1086/302899;
Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V.,
Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P.,
Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M.,
Cordier-Alex M.P., Correia P., Galvin-Parton P.A., Gaskill S.,
Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T.,
McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S.;
"Mutation analysis and embryonic expression of the HLXB9 Currarino
syndrome gene.";
Am. J. Hum. Genet. 66:1504-1515(2000).
[9]
ERRATUM.
Hagan D.M., Ross A.J., Strachan T., Lynch S.A., Ruiz-Perez V.,
Wang Y.M., Scambler P., Custard E., Reardon W., Hassan S., Nixon P.,
Papapetrou C., Winter R.M., Edwards Y., Morrison K., Barrow M.,
Cordier-Alex M.P., Correia P., Galvin-Parton P.A., Gaskill S.,
Gaskin K.J., Garcia-Minaur S., Gereige R., Hayward R., Homfray T.,
McKeown C., Murday V., Plauchu H., Shannon N., Spitz L., Lindsay S.;
Am. J. Hum. Genet. 67:769-769(2000).
[10]
VARIANTS CURRAS TRP-243 AND GLY-288.
PubMed=19853743; DOI=10.1016/j.jpedsurg.2009.03.039;
Garcia-Barcelo M.M., Lui V.C., So M.T., Miao X., Leon T.Y., Yuan Z.W.,
Ngan E.S., Ehsan T., Chung P.H., Khong P.L., Wong K.K., Tam P.K.;
"MNX1 (HLXB9) mutations in Currarino patients.";
J. Pediatr. Surg. 44:1892-1898(2009).
[11]
VARIANT CURRAS SER-289.
PubMed=22820079; DOI=10.1016/j.gene.2012.06.096;
Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T.,
Nordenskjold A.;
"Novel mutations in the MNX1 gene in two families with Currarino
syndrome and variable phenotype.";
Gene 507:50-53(2012).
-!- FUNCTION: Putative transcription factor involved in pancreas
development and function.
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=P50219-1; Sequence=Displayed;
Name=2;
IsoId=P50219-2; Sequence=VSP_046773, VSP_046774;
Note=Gene prediction based on EST data.;
-!- TISSUE SPECIFICITY: Expressed in lymphoid and pancreatic tissues.
-!- DISEASE: Currarino syndrome (CURRAS) [MIM:176450]: The triad of a
presacral tumor, sacral agenesis and anorectal malformation
constitutes the Currarino syndrome which is caused by dorsal-
ventral patterning defects during embryonic development. The
syndrome occurs in the majority of patients as an autosomal
dominant trait. {ECO:0000269|PubMed:10631160,
ECO:0000269|PubMed:10749657, ECO:0000269|PubMed:19853743,
ECO:0000269|PubMed:22820079}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/HLXB9ID393.html";
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; U07664; AAB60647.1; -; Genomic_DNA.
EMBL; U07663; AAB60647.1; JOINED; Genomic_DNA.
EMBL; AC006357; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AH007909; AAD41467.1; -; Genomic_DNA.
CCDS; CCDS34788.1; -. [P50219-1]
CCDS; CCDS55187.1; -. [P50219-2]
RefSeq; NP_001158727.1; NM_001165255.1. [P50219-2]
RefSeq; NP_005506.3; NM_005515.3. [P50219-1]
UniGene; Hs.37035; -.
ProteinModelPortal; P50219; -.
SMR; P50219; -.
BioGrid; 109355; 1.
STRING; 9606.ENSP00000252971; -.
iPTMnet; P50219; -.
PhosphoSitePlus; P50219; -.
BioMuta; MNX1; -.
DMDM; 259016336; -.
MaxQB; P50219; -.
PaxDb; P50219; -.
PeptideAtlas; P50219; -.
PRIDE; P50219; -.
DNASU; 3110; -.
Ensembl; ENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
Ensembl; ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
GeneID; 3110; -.
KEGG; hsa:3110; -.
UCSC; uc003wnc.1; human. [P50219-1]
CTD; 3110; -.
DisGeNET; 3110; -.
EuPathDB; HostDB:ENSG00000130675.14; -.
GeneCards; MNX1; -.
H-InvDB; HIX0033536; -.
HGNC; HGNC:4979; MNX1.
HPA; HPA071717; -.
MalaCards; MNX1; -.
MIM; 142994; gene.
MIM; 176450; phenotype.
neXtProt; NX_P50219; -.
OpenTargets; ENSG00000130675; -.
Orphanet; 1552; Currarino triad.
PharmGKB; PA162396041; -.
eggNOG; KOG0489; Eukaryota.
eggNOG; ENOG410ZTBY; LUCA.
GeneTree; ENSGT00760000118940; -.
HOGENOM; HOG000234345; -.
HOVERGEN; HBG051910; -.
InParanoid; P50219; -.
KO; K08025; -.
OrthoDB; EOG091G0PFO; -.
PhylomeDB; P50219; -.
TreeFam; TF351530; -.
SIGNOR; P50219; -.
GeneWiki; MNX1; -.
GenomeRNAi; 3110; -.
PRO; PR:P50219; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000130675; -.
CleanEx; HS_MNX1; -.
ExpressionAtlas; P50219; baseline and differential.
Genevisible; P50219; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0005730; C:nucleolus; IDA:HPA.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
GO; GO:0003700; F:transcription factor activity, sequence-specific DNA binding; TAS:ProtInc.
GO; GO:0009653; P:anatomical structure morphogenesis; TAS:ProtInc.
GO; GO:0031018; P:endocrine pancreas development; IBA:GO_Central.
GO; GO:0006959; P:humoral immune response; TAS:ProtInc.
GO; GO:0048812; P:neuron projection morphogenesis; IBA:GO_Central.
GO; GO:0006357; P:regulation of transcription from RNA polymerase II promoter; TAS:ProtInc.
GO; GO:0021520; P:spinal cord motor neuron cell fate specification; IBA:GO_Central.
GO; GO:0006351; P:transcription, DNA-templated; IEA:UniProtKB-KW.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR020479; Homeobox_metazoa.
Pfam; PF00046; Homeobox; 1.
PRINTS; PR00024; HOMEOBOX.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
1: Evidence at protein level;
Acetylation; Alternative splicing; Complete proteome;
Disease mutation; DNA-binding; Homeobox; Nucleus; Phosphoprotein;
Reference proteome; Transcription; Transcription regulation.
CHAIN 1 401 Motor neuron and pancreas homeobox
protein 1.
/FTId=PRO_0000048905.
DNA_BIND 241 300 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
COMPBIAS 35 38 Poly-Ala.
COMPBIAS 40 49 Poly-Gly.
COMPBIAS 98 112 Poly-Gly.
COMPBIAS 121 134 Poly-Ala.
COMPBIAS 168 176 Poly-Ala.
COMPBIAS 315 324 Poly-Gly.
MOD_RES 1 1 N-acetylmethionine.
{ECO:0000244|PubMed:22814378}.
MOD_RES 77 77 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
MOD_RES 79 79 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VAR_SEQ 1 212 Missing (in isoform 2). {ECO:0000305}.
/FTId=VSP_046773.
VAR_SEQ 213 231 WLRASTAGMILPKMPDFNS -> MGGLSTVGACPGILGAQQ
A (in isoform 2). {ECO:0000305}.
/FTId=VSP_046774.
VARIANT 243 243 R -> W (in CURRAS).
{ECO:0000269|PubMed:19853743}.
/FTId=VAR_068473.
VARIANT 245 245 R -> G (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017874.
VARIANT 245 245 R -> H (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017875.
VARIANT 246 246 T -> S (in CURRAS; dbSNP:rs121912548).
{ECO:0000269|PubMed:10631160}.
/FTId=VAR_017876.
VARIANT 288 288 W -> G (in CURRAS).
{ECO:0000269|PubMed:10749657,
ECO:0000269|PubMed:19853743}.
/FTId=VAR_017877.
VARIANT 288 288 W -> L (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017878.
VARIANT 289 289 F -> S (in CURRAS).
{ECO:0000269|PubMed:22820079}.
/FTId=VAR_068474.
VARIANT 290 290 Q -> P (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017879.
VARIANT 292 292 R -> W (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017880.
VARIANT 293 293 R -> Q (in CURRAS).
{ECO:0000269|PubMed:10749657}.
/FTId=VAR_017881.
VARIANT 293 293 R -> W (in CURRAS).
{ECO:0000269|PubMed:10631160}.
/FTId=VAR_017882.
CONFLICT 10 37 DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPH
EPPLAERALAKVTSPPVP (in Ref. 1; AAB60647).
{ECO:0000305}.
CONFLICT 121 121 A -> AAA (in Ref. 1; AAB60647).
{ECO:0000305}.
CONFLICT 121 121 A -> ARA (in Ref. 3; AAD41467).
{ECO:0000305}.
CONFLICT 262 262 L -> F (in Ref. 1; AAB60647).
{ECO:0000305}.
CONFLICT 340 340 G -> R (in Ref. 1; AAB60647).
{ECO:0000305}.
CONFLICT 346 349 RRLR -> PPA (in Ref. 1; AAB60647).
{ECO:0000305}.
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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