[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. TISSUE=Placenta; PubMed=7914194 [NCBI, ExPASy, EBI, Israel, Japan] 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 [GENOMIC DNA] OF 1-355. DOI=10.1006/geno.1999.5796; PubMed=10329000 [NCBI, ExPASy, EBI, Israel, Japan] 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).
[3]	VARIANTS CURRARINO SYNDROME SER-248 AND TRP-295. DOI=10.1086/302723; PubMed=10631160 [NCBI, ExPASy, EBI, Israel, Japan] 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).
[4]	VARIANTS CURRARINO SYNDROME HIS-247; GLY-247; GLY-290; LEU-290; PRO-292; TRP-294 AND GLN-295. DOI=10.1086/302899; PubMed=10749657 [NCBI, ExPASy, EBI, Israel, Japan] 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).
[5]	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).

Comments

FUNCTION: Putative transcription factor involved in pancreas development and function.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in lymphoid and pancreatic tissues.
DISEASE: Defects in MNX1 are a cause of Currarino syndrome [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.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HLXB9ID393.html";.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=HLXB9";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

U07664; AAB60647.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U07663; AAB60647.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF107453; AAD41467.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF107452; AAD41467.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

UniGene

Hs.37035

3D structure databases

HSSP

P14653; 1B72. [HSSP ENTRY / PDB]

ModBase

P50219.

Organism-specific databases

HGNC:4979; MNX1.

142994; gene. [NCBI / EBI]
176450; phenotype. [NCBI / EBI]

Orphanet

1552; Currarino triad.

PharmGKB

PA29313; -.

GeneCards

P50219.

Gene expression databases

ArrayExpress

P50219; -.

CleanEx

HS_MNX1; -.

GermOnline

ENSG00000130675; Homo sapiens.

Ontologies

GO:0005634;	Cellular component: nucleus (non-traceable author statement from UniProtKB).
GO:0003702;	Molecular function: RNA polymerase II transcription factor activity (traceable author statement from ProtInc).
GO:0003700;	Molecular function: transcription factor activity (non-traceable author statement from UniProtKB).
GO:0009653;	Biological process: anatomical structure morphogenesis (traceable author statement from ProtInc).
GO:0006959;	Biological process: humoral immune response (traceable author statement from ProtInc).
GO:0006357;	Biological process: regulation of transcription from RNA polymerase II promoter (traceable author statement from ProtInc).
QuickGo view.

Family and domain databases

InterPro

IPR001356; Homeobox.
IPR012287; Homeodomain-rel.
Graphical view of domain structure.

Gene3D

G3DSA:1.10.10.60; Homeodomain-rel; 1.

Pfam

PF00046; Homeobox; 1.
Pfam graphical view of domain structure.

PRINTS

PR00024; HOMEOBOX.

ProDom

PD000010; Homeobox; 1.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00389; HOX; 1.
SMART graphical view of domain structure.

PROSITE

PS00027; HOMEOBOX_1; 1.
PS50071; HOMEOBOX_2; 1.
PROSITE graphical view of domain structure (profiles).

BLOCKS

P50219.

Genome annotation databases

Ensembl

ENSG00000130675; Homo sapiens. [Contig view]

Phylogenomic databases

HOGENOM

P50219; -.

HOVERGEN

P50219; -.

Other

MNX1; Homo sapiens.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Disease mutation; DNA-binding; Homeobox; Nucleus; Transcription; Transcription regulation.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 403`	`403`	`Motor neuron and pancreas homeobox protein 1.`	`PRO_0000048905`
`DNA_BIND`	`243 302`	`60`	`Homeobox.`
`COMPBIAS`	`35 38`	`4`	`Poly-Ala.`
`COMPBIAS`	`40 49`	`10`	`Poly-Gly.`
`COMPBIAS`	`98 112`	`15`	`Poly-Gly.`
`COMPBIAS`	`121 136`	`16`	`Poly-Ala.`
`COMPBIAS`	`170 178`	`9`	`Poly-Ala.`
`COMPBIAS`	`317 326`	`10`	`Poly-Gly.`
`VARIANT`	`247 247`	`1`	`R -> G (in Currarino syndrome).`	`VAR_017874`
`VARIANT`	`247 247`	`1`	`R -> H (in Currarino syndrome).`	`VAR_017875`
`VARIANT`	`248 248`	`1`	`T -> S (in Currarino syndrome).`	`VAR_017876`
`VARIANT`	`290 290`	`1`	`W -> G (in Currarino syndrome).`	`VAR_017877`
`VARIANT`	`290 290`	`1`	`W -> L (in Currarino syndrome).`	`VAR_017878`
`VARIANT`	`292 292`	`1`	`Q -> P (in Currarino syndrome).`	`VAR_017879`
`VARIANT`	`294 294`	`1`	`R -> W (in Currarino syndrome).`	`VAR_017880`
`VARIANT`	`295 295`	`1`	`R -> Q (in Currarino syndrome).`	`VAR_017881`
`VARIANT`	`295 295`	`1`	`R -> W (in Currarino syndrome).`	`VAR_017882`
`CONFLICT`	`10 37`		`DALLAVDPPRAASAQSAPLALVTSLAAA -> EPCWRWTPHEPPLAERALAKVTSPPVP (in Ref. 1).`
`CONFLICT`	`122 122`		`R -> A (in Ref. 1; AAB60647).`
`CONFLICT`	`264 264`		`L -> F (in Ref. 1; AAB60647).`
`CONFLICT`	`342 342`		`G -> R (in Ref. 1; AAB60647).`
`CONFLICT`	`348 351`		`XRLR -> PPA (in Ref. 1).`

Sequence information

Length: 403 AA [This is the length of the unprocessed precursor]

Molecular weight: 40751 Da [This is the MW of the unprocessed precursor]

CRC64: 648D5D99D22B971D [This is a checksum on the sequence]

        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 
ARAAAAAAAA AAAAAAGGLA LGLHPGGAQG GAGLPAQAAL YGHPVYGYSA AAAAAALAGQ 

       190        200        210        220        230        240 
HPALSYSYPQ VQGAHPAHPA DPIKLGAGTF QLDQWLRAST AGMILPKMPD FNSQAQSNLL 

       250        260        270        280        290        300 
GKCRRPRTAF TSQQLLELEH QFKLNKYLSR PKRFEVATSL MLTETQVKIW FQNRRMKWKR 

       310        320        330        340        350        360 
SKKAKEQAAQ EAEKQKGGGG GAGKGGAEEP GAEELLGPPA PGDKGSGXRL RDLRDSDPEE 

       370        380        390        400 
DEDEDDEDHF PYSNGASVHA ASSDCSSEDD SPPPRPSHQP APQ

P50219 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools