MNX1

MNX1
Identifiers
Aliases	MNX1, HB9, HLXB9, HOXHB9, SCRA1, motor neuron and pancreas homeobox 1
External IDs	OMIM: 142994 MGI: 109160 HomoloGene: 21137 GeneCards: MNX1
Gene location (Human)
Chr.	Chromosome 7 (human)[1]
End	157,010,663 bp[1]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• DNA binding; • sequence-specific DNA binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	• nucleolus; • cell nucleus; • cytosol;
Biological process	• regulation of transcription from RNA polymerase II promoter; • humoral immune response; • neuron projection morphogenesis; • spinal cord motor neuron cell fate specification; • transcription, DNA-templated; • anatomical structure morphogenesis; • endocrine pancreas development; • regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	3110
	15285
	ENSG00000130675
	n/a
	P50219
	Q9QZW9
	NM_005515; NM_001165255
	NM_019944
	NP_001158727; NP_005506
	NP_064328
	Wikidata
View/Edit Human	View/Edit Mouse

Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the MNX1 gene.[4]

Clinical significance

Mutations in the MNX1 gene are associated with Currarino syndrome.[5]

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References

GRCh38: Ensembl release 89: ENSG00000130675 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Entrez Gene: HLXB9 homeobox HB9".
Merello E, De Marco P, Ravegnani M, Riccipetitoni G, Cama A, Capra V (2013). "Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases". Eur J Med Genet. 56 (12): 648–54. doi:10.1016/j.ejmg.2013.09.011. PMID 24095820.

Catala M (2002). "Genetic control of caudal development". Clin. Genet. 61 (2): 89–96. doi:10.1034/j.1399-0004.2002.610202.x. PMID 11940082.
Deguchi Y, Kehrl JH (1991). "Nucleotide sequence of a novel diverged human homeobox gene encodes a DNA binding protein". Nucleic Acids Res. 19 (13): 3742. doi:10.1093/nar/19.13.3742. PMC 328407. PMID 1677181.
Deguchi Y, Kehrl JH (1991). "Selective expression of two homeobox genes in CD34-positive cells from human bone marrow". Blood. 78 (2): 323–8. doi:10.1182/blood.V78.2.323.323. PMID 1712647.
Lynch SA, Bond PM, Copp AJ, Kirwan WO, Nour S, Balling R, Mariman E, Burn J, Strachan T (1995). "A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36". Nat. Genet. 11 (1): 93–5. doi:10.1038/ng0995-93. hdl:2066/21661. PMID 7550324.
Harrison KA, Druey KM, Deguchi Y, Tuscano JM, Kehrl JH (1994). "A novel human homeobox gene distantly related to proboscipedia is expressed in lymphoid and pancreatic tissues". J. Biol. Chem. 269 (31): 19968–75. PMID 7914194.
Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T (1998). "A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis". Nat. Genet. 20 (4): 358–61. doi:10.1038/3828. PMID 9843207.
Heus HC, Hing A, van Baren MJ, Joosse M, Breedveld GJ, Wang JC, Burgess A, Donnis-Keller H, Berglund C, Zguricas J, Scherer SW, Rommens JM, Oostra BA, Heutink P (1999). "A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36". Genomics. 57 (3): 342–51. doi:10.1006/geno.1999.5796. PMID 10329000.
Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW (2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome". Am. J. Hum. Genet. 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160.
Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T (2000). "Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene". Am. J. Hum. Genet. 66 (5): 1504–15. doi:10.1086/302899. PMC 1378009. PMID 10749657.
Köchling J, Karbasiyan M, Reis A (2001). "Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome". Eur. J. Hum. Genet. 9 (8): 599–605. doi:10.1038/sj.ejhg.5200683. PMID 11528505.
Nagel S, Scherr M, Quentmeier H, Kaufmann M, Zaborski M, Drexler HG, MacLeod RA (2005). "HLXB9 activates IL6 in Hodgkin lymphoma cell lines and is regulated by PI3K signalling involving E2F3". Leukemia. 19 (5): 841–6. doi:10.1038/sj.leu.2403716. PMID 15772702.
Cheng J, Kapranov P, Drenkow J, Dike S, Brubaker S, Patel S, Long J, Stern D, Tammana H, Helt G, Sementchenko V, Piccolboni A, Bekiranov S, Bailey DK, Ganesh M, Ghosh S, Bell I, Gerhard DS, Gingeras TR (2005). "Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution". Science. 308 (5725): 1149–54. doi:10.1126/science.1108625. PMID 15790807.
Hori Y, Gu X, Xie X, Kim SK (2005). "Differentiation of insulin-producing cells from human neural progenitor cells". PLoS Med. 2 (4): e103. doi:10.1371/journal.pmed.0020103. PMC 1087208. PMID 15839736.
Kapranov P, Drenkow J, Cheng J, Long J, Helt G, Dike S, Gingeras TR (2005). "Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays". Genome Res. 15 (7): 987–97. doi:10.1101/gr.3455305. PMC 1172043. PMID 15998911.
von Bergh AR, van Drunen E, van Wering ER, van Zutven LJ, Hainmann I, Lönnerholm G, Meijerink JP, Pieters R, Beverloo HB (2006). "High incidence of t(7;12)(q36;p13) in infant AML but not in infant ALL, with a dismal outcome and ectopic expression of HLXB9". Genes Chromosomes Cancer. 45 (8): 731–9. doi:10.1002/gcc.20335. PMID 16646086.
Kim IS, Oh SY, Choi SJ, Kim JH, Park KH, Park HK, Kim JW, Ki CS (2007). "Clinical and genetic analysis of HLXB9 gene in Korean patients with Currarino syndrome". J. Hum. Genet. 52 (8): 698–701. doi:10.1007/s10038-007-0173-y. PMID 17612791.

External links

MNX1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000130675 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-4] "Entrez Gene: HLXB9 homeobox HB9".

[pmid24095820-5] Merello E, De Marco P, Ravegnani M, Riccipetitoni G, Cama A, Capra V (2013). "Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases". Eur J Med Genet. 56 (12): 648–54. doi:10.1016/j.ejmg.2013.09.011. PMID 24095820.

MNX1

Clinical significance

References

Further reading

External links