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P50219 (MNX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 121. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Motor neuron and pancreas homeobox protein 1
Alternative name(s):
Homeobox protein HB9
Gene names
Name:MNX1
Synonyms:HLXB9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length401 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Putative transcription factor involved in pancreas development and function.

Subcellular location

Nucleus.

Tissue specificity

Expressed in lymphoid and pancreatic tissues.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.9 Ref.10

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainHomeobox
   LigandDNA-binding
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure morphogenesis

Traceable author statement PubMed 9843207. Source: ProtInc

diaphragm development

Inferred from electronic annotation. Source: Ensembl

dorsal/ventral neural tube patterning

Inferred from electronic annotation. Source: Ensembl

endocrine pancreas development

Inferred from electronic annotation. Source: Ensembl

humoral immune response

Traceable author statement Ref.1. Source: ProtInc

motor neuron axon guidance

Inferred from electronic annotation. Source: Ensembl

nerve development

Inferred from electronic annotation. Source: Ensembl

neuron migration

Inferred from electronic annotation. Source: Ensembl

post-embryonic development

Inferred from electronic annotation. Source: Ensembl

regulation of transcription from RNA polymerase II promoter

Traceable author statement PubMed 9843207. Source: ProtInc

spinal cord motor neuron cell fate specification

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Traceable author statement PubMed 9843207. Source: ProtInc

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P50219-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P50219-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     213-231: WLRASTAGMILPKMPDFNS → MGGLSTVGACPGILGAQQA
Note: Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 401401Motor neuron and pancreas homeobox protein 1
PRO_0000048905

Regions

DNA binding241 – 30060Homeobox
Compositional bias35 – 384Poly-Ala
Compositional bias40 – 4910Poly-Gly
Compositional bias98 – 11215Poly-Gly
Compositional bias121 – 13414Poly-Ala
Compositional bias168 – 1769Poly-Ala
Compositional bias315 – 32410Poly-Gly

Amino acid modifications

Modified residue11N-acetylmethionine Ref.5

Natural variations

Alternative sequence1 – 212212Missing in isoform 2.
VSP_046773
Alternative sequence213 – 23119WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2.
VSP_046774
Natural variant2431R → W in CURRAS. Ref.9
VAR_068473
Natural variant2451R → G in CURRAS. Ref.7
VAR_017874
Natural variant2451R → H in CURRAS. Ref.7
VAR_017875
Natural variant2461T → S in CURRAS. Ref.6
VAR_017876
Natural variant2881W → G in CURRAS. Ref.7 Ref.9
VAR_017877
Natural variant2881W → L in CURRAS. Ref.7
VAR_017878
Natural variant2891F → S in CURRAS. Ref.10
VAR_068474
Natural variant2901Q → P in CURRAS. Ref.7
VAR_017879
Natural variant2921R → W in CURRAS. Ref.7
VAR_017880
Natural variant2931R → Q in CURRAS. Ref.7
VAR_017881
Natural variant2931R → W in CURRAS. Ref.6
VAR_017882

Experimental info

Sequence conflict10 – 3728DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647. Ref.1
Sequence conflict1211A → AAA in AAB60647. Ref.1
Sequence conflict1211A → ARA in AAD41467. Ref.3
Sequence conflict2621L → F in AAB60647. Ref.1
Sequence conflict3401G → R in AAB60647. Ref.1
Sequence conflict346 – 3494RRLR → PPA in AAB60647. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 22, 2009. Version 3.
Checksum: 67527C8F789DFFDB

FASTA40140,569
        10         20         30         40         50         60 
MEKSKNFRID ALLAVDPPRA ASAQSAPLAL VTSLAAAASG TGGGGGGGGA SGGTSGSCSP 

        70         80         90        100        110        120 
ASSEPPAAPA DRLRAESPSP PRLLAAHCAL LPKPGFLGAG GGGGGTGGGH GGPHHHAHPG 

       130        140        150        160        170        180 
AAAAAAAAAA AAAAGGLALG LHPGGAQGGA GLPAQAALYG HPVYGYSAAA AAAALAGQHP 

       190        200        210        220        230        240 
ALSYSYPQVQ GAHPAHPADP IKLGAGTFQL DQWLRASTAG MILPKMPDFN SQAQSNLLGK 

       250        260        270        280        290        300 
CRRPRTAFTS QQLLELEHQF KLNKYLSRPK RFEVATSLML TETQVKIWFQ NRRMKWKRSK 

       310        320        330        340        350        360 
KAKEQAAQEA EKQKGGGGGA GKGGAEEPGA EELLGPPAPG DKGSGRRLRD LRDSDPEEDE 

       370        380        390        400 
DEDDEDHFPY SNGASVHAAS SDCSSEDDSP PPRPSHQPAP Q 

« Hide

Isoform 2 [UniParc].

Checksum: F227EEDC4874B856
Show »

FASTA18920,553

References

« Hide 'large scale' references
[1]"A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues."
Harrison K.A., Druey K.M., Deguchi Y., Tuscano J.M., Kehrl J.H.
J. Biol. Chem. 269:19968-19975(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
Tissue: Placenta.
[2]"The DNA sequence of human chromosome 7."
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. expand/collapse author list , 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.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36."
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.
Genomics 57:342-351(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-353 (ISOFORM 1).
[4]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[5]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
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.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"Involvement of the HLXB9 homeobox gene in Currarino syndrome."
Belloni E., Martucciello G., Verderio D., Ponti E., Seri M., Jasonni V., Torre M., Ferrari M., Tsui L.-C., Scherer S.W.
Am. J. Hum. Genet. 66:312-319(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CURRAS SER-246 AND TRP-293.
[7]"Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene."
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. expand/collapse author list , 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. 66:1504-1515(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CURRAS HIS-245; GLY-245; GLY-288; LEU-288; PRO-290; TRP-292 AND GLN-293.
[8]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. expand/collapse author list , 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)
[9]"MNX1 (HLXB9) mutations in Currarino patients."
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.
J. Pediatr. Surg. 44:1892-1898(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CURRAS TRP-243 AND GLY-288.
[10]"Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype."
Markljung E., Adamovic T., Cao J., Naji H., Kaiser S., Wester T., Nordenskjold A.
Gene 507:50-53(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CURRAS SER-289.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U07664, U07663 Genomic DNA. Translation: AAB60647.1.
AC006357 Genomic DNA. No translation available.
AH007909 Genomic DNA. Translation: AAD41467.1.
RefSeqNP_001158727.1. NM_001165255.1.
NP_005506.3. NM_005515.3.
UniGeneHs.37035.

3D structure databases

ProteinModelPortalP50219.
SMRP50219. Positions 201-300.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109355. 1 interaction.
STRING9606.ENSP00000252971.

PTM databases

PhosphoSiteP50219.

Polymorphism databases

DMDM259016336.

Proteomic databases

PaxDbP50219.
PRIDEP50219.

Protocols and materials databases

DNASU3110.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000252971; ENSP00000252971; ENSG00000130675. [P50219-1]
ENST00000543409; ENSP00000438552; ENSG00000130675. [P50219-2]
GeneID3110.
KEGGhsa:3110.
UCSCuc003wna.3. human. [P50219-1]

Organism-specific databases

CTD3110.
GeneCardsGC07M156786.
H-InvDBHIX0033536.
HGNCHGNC:4979. MNX1.
MIM142994. gene.
176450. phenotype.
neXtProtNX_P50219.
Orphanet1552. Currarino triad.
PharmGKBPA162396041.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322049.
HOGENOMHOG000234345.
HOVERGENHBG051910.
InParanoidP50219.
KOK08025.
OrthoDBEOG7VHT0H.
PhylomeDBP50219.
TreeFamTF351530.

Gene expression databases

ArrayExpressP50219.
BgeeP50219.
CleanExHS_MNX1.
GenevestigatorP50219.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMNX1.
GenomeRNAi3110.
NextBio12341.
PROP50219.
SOURCESearch...

Entry information

Entry nameMNX1_HUMAN
AccessionPrimary (citable) accession number: P50219
Secondary accession number(s): F5H401, Q9Y648
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 22, 2009
Last modified: March 19, 2014
This is version 121 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM