Reviewed, UniProtKB/Swiss-Prot P50219 (MNX1_HUMAN)

Names and origin

Protein names

Recommended name:
    Motor neuron and pancreas homeobox protein 1
Alternative name(s):
    Homeobox protein HB9

Gene names

Name:	MNX1
Synonyms:	HLXB9

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	403 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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	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.
Sequence similarities	Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Traceable author statement. Source: ProtInc humoral immune response Ref.1 Traceable author statement. Source: ProtInc regulation of transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular function	RNA polymerase II transcription factor activity Ref.1 Traceable author statement. Source: ProtInc sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 403	403	Motor neuron and pancreas homeobox protein 1		PRO_0000048905
Regions
	DNA binding	243 – 302	60	Homeobox
	Compositional bias	35 – 38	4	Poly-Ala
	Compositional bias	40 – 49	10	Poly-Gly
	Compositional bias	98 – 112	15	Poly-Gly
	Compositional bias	121 – 136	16	Poly-Ala
	Compositional bias	170 – 178	9	Poly-Ala
	Compositional bias	317 – 326	10	Poly-Gly
Amino acid modifications
	Modified residue	77	1	Phosphoserine
	Modified residue	79	1	Phosphoserine
Natural variations
	Natural variant	247	1	R → G in Currarino syndrome.		VAR_017874
	Natural variant	247	1	R → H in Currarino syndrome.		VAR_017875
	Natural variant	248	1	T → S in Currarino syndrome.		VAR_017876
	Natural variant	290	1	W → G in Currarino syndrome.		VAR_017877
	Natural variant	290	1	W → L in Currarino syndrome.		VAR_017878
	Natural variant	292	1	Q → P in Currarino syndrome.		VAR_017879
	Natural variant	294	1	R → W in Currarino syndrome.		VAR_017880
	Natural variant	295	1	R → Q in Currarino syndrome.		VAR_017881
	Natural variant	295	1	R → W in Currarino syndrome.		VAR_017882
Experimental info
	Sequence conflict	10 – 37	28	DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP Ref.1
	Sequence conflict	122	1	R → A in AAB60647. Ref.1
	Sequence conflict	264	1	L → F in AAB60647. Ref.1
	Sequence conflict	342	1	G → R in AAB60647. Ref.1
	Sequence conflict	348 – 351	4	XRLR → PPA Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P50219-1 [UniParc]. Last modified March 15, 2004. Version 2. Checksum: 648D5D99D22B971D	FASTA	403	40,751
	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

References

	« Hide 'large scale' referencesShow '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: 7914194] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Tissue: Placenta.
[2]	"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: 10329000] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-355.
[3]	"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: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-77 AND SER-79, MASS SPECTROMETRY.
[4]	"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: 10631160] [Abstract] Cited for: VARIANTS CURRARINO SYNDROME SER-248 AND TRP-295.
[5]	"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. , 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: 10749657] [Abstract] Cited for: VARIANTS CURRARINO SYNDROME HIS-247; GLY-247; GLY-290; LEU-290; PRO-292; TRP-294 AND GLN-295.
[6]	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)
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases
EMBLGenBankDDBJ	U07664, U07663 Genomic DNA. Translation: AAB60647.1. AF107453, AF107452 Genomic DNA. Translation: AAD41467.1.
UniGene	Hs.37035
3D structure databases
HSSP	HSSP built from PDB template 1B72 based on UniProtKB P14653.
ModBase	Search...
PTM databases
PhosphoSite	P50219.
Genome annotation databases
Ensembl	ENSG00000130675. Homo sapiens. [Contig view]
Organism-specific databases
HGNC	HGNC:4979. MNX1.
MIM	142994. gene. 176450. phenotype.
Orphanet	1552. Currarino triad.
PharmGKB	PA29313.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P50219.
HOVERGEN	P50219.
Gene expression databases
ArrayExpress	P50219.
CleanEx	HS_MNX1.
GermOnline	ENSG00000130675. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
ProDom	PD000010. Homeobox. 1 hit. [Graphical view] [Entries sharing at least one domain]
SMART	SM00389. HOX. 1 hit. [Graphical view]
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
SOURCE	Search...

Entry information

Entry name

MNX1_HUMAN

Accession

Primary (citable) accession number: P50219
Secondary accession number(s): Q9Y648

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	March 15, 2004
Last modified:	November 25, 2008
This is version 67 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)