P50219 (MNX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	401 AA.
Sequence status	Complete.
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	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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	anatomical 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-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 401	401	Motor neuron and pancreas homeobox protein 1		PRO_0000048905
Regions
	DNA binding	241 – 300	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 – 134	14	Poly-Ala
	Compositional bias	168 – 176	9	Poly-Ala
	Compositional bias	315 – 324	10	Poly-Gly
Amino acid modifications
	Modified residue	1	1	N-acetylmethionine Ref.5
Natural variations
	Alternative sequence	1 – 212	212	Missing in isoform 2.		VSP_046773
	Alternative sequence	213 – 231	19	WLRAS…PDFNS → MGGLSTVGACPGILGAQQA in isoform 2.		VSP_046774
	Natural variant	243	1	R → W in CURRAS. Ref.9		VAR_068473
	Natural variant	245	1	R → G in CURRAS. Ref.7		VAR_017874
	Natural variant	245	1	R → H in CURRAS. Ref.7		VAR_017875
	Natural variant	246	1	T → S in CURRAS. Ref.6		VAR_017876
	Natural variant	288	1	W → G in CURRAS. Ref.7 Ref.9		VAR_017877
	Natural variant	288	1	W → L in CURRAS. Ref.7		VAR_017878
	Natural variant	289	1	F → S in CURRAS. Ref.10		VAR_068474
	Natural variant	290	1	Q → P in CURRAS. Ref.7		VAR_017879
	Natural variant	292	1	R → W in CURRAS. Ref.7		VAR_017880
	Natural variant	293	1	R → Q in CURRAS. Ref.7		VAR_017881
	Natural variant	293	1	R → W in CURRAS. Ref.6		VAR_017882
Experimental info
	Sequence conflict	10 – 37	28	DALLA…SLAAA → EPCWRWTPHEPPLAERALAK VTSPPVP in AAB60647. Ref.1
	Sequence conflict	121	1	A → AAA in AAB60647. Ref.1
	Sequence conflict	121	1	A → ARA in AAD41467. Ref.3
	Sequence conflict	262	1	L → F in AAB60647. Ref.1
	Sequence conflict	340	1	G → R in AAB60647. Ref.1
	Sequence conflict	346 – 349	4	RRLR → PPA in AAB60647. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 22, 2009. Version 3. Checksum: 67527C8F789DFFDB	FASTA	401	40,569
	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
	Isoform 2 [UniParc]. Checksum: F227EEDC4874B856	FASTA	189	20,553
	10 20 30 40 50 60 MGGLSTVGAC PGILGAQQAQ AQSNLLGKCR RPRTAFTSQQ LLELEHQFKL NKYLSRPKRF 70 80 90 100 110 120 EVATSLMLTE TQVKIWFQNR RMKWKRSKKA KEQAAQEAEK QKGGGGGAGK GGAEEPGAEE 130 140 150 160 170 180 LLGPPAPGDK GSGRRLRDLR DSDPEEDEDE DDEDHFPYSN GASVHAASSD CSSEDDSPPP RPSHQPAPQ

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] [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. , 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, MASS SPECTROMETRY.
[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. , 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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

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.
IPI	IPI00030703. IPI00925104.
RefSeq	NP_001158727.1. NM_001165255.1. NP_005506.3. NM_005515.3.
UniGene	Hs.37035.
3D structure databases
ProteinModelPortal	P50219.
SMR	P50219. Positions 239-300.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000252971.
PTM databases
PhosphoSite	P50219.
Polymorphism databases
DMDM	259016336.
Proteomic databases
PaxDb	P50219.
PRIDE	P50219.
Protocols and materials databases
DNASU	3110.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000252971; ENSP00000252971; ENSG00000130675. ENST00000543409; ENSP00000438552; ENSG00000130675.
GeneID	3110.
KEGG	hsa:3110.
UCSC	uc003wnc.1. human.
Organism-specific databases
CTD	3110.
GeneCards	GC07M156786.
H-InvDB	HIX0033536.
HGNC	HGNC:4979. MNX1.
MIM	142994. gene. 176450. phenotype.
neXtProt	NX_P50219.
Orphanet	1552. Currarino triad.
PharmGKB	PA162396041.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG322049.
HOGENOM	HOG000234345.
HOVERGEN	HBG051910.
InParanoid	P50219.
KO	K08025.
OrthoDB	EOG7VHT0H.
PhylomeDB	P50219.
Gene expression databases
ArrayExpress	P50219.
Bgee	P50219.
CleanEx	HS_MNX1.
Genevestigator	P50219.
Family and domain databases
Gene3D	1.10.10.60. 1 hit.
InterPro	IPR017970. Homeobox_CS. IPR001356. Homeobox_dom. IPR020479. Homeobox_metazoa. IPR009057. Homeodomain-like. [Graphical view]
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. SSF46689. 1 hit.
PROSITE	PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GeneWiki	MNX1.
GenomeRNAi	3110.
NextBio	12341.
PRO	P50219.
SOURCE	Search...

Entry information

Entry name

MNX1_HUMAN

Accession

Primary (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:	November 13, 2013
This is version 118 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.