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Homo sapiens ALX homeobox 3 (ALX3), mRNA.


RefSeq Accession Definition Services Price Order
NM_006492 Homo sapiens ALX homeobox 3 (ALX3), mRNA. ORF Sequence $299.28
Peptide Services
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Protein Services


RefSeq Version NM_006492.2, 113204603
Length 1478 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ALX homeobox 3 (ALX3), mRNA.
Product homeobox protein aristaless-like 3
Comment

Summary: This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this gene's promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008].


##Evidence-Data-START## Transcript exon combination :: BC113428.1, BC112007.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END##

RefSeq NP_006483.2
CDS 89..1120
Misc Feature(1)80..82
Misc Feature(2)80..82
Misc Feature(3)578..724
Misc Feature(4)578..724
Misc Feature(5)order(617..619,635..637,674..676,680..685,692..697,
Misc Feature(6)order(683..685,692..697,704..706)
Exon (1)366..682
Gene:ALX3
Gene Synonym:FND1
Exon (2)683..811
Gene:ALX3
Gene Synonym:FND1
Exon (3)812..1478
Gene:ALX3
Gene Synonym:FND1
Translation MDPEHCAPFRVGPAPGPYVASGDEPPGPQGTPAAAPHLHPAPPRGPRLTRFPACGPLEPY LPEPAKPPAKYLQDLGPGPALNGGHFYEGPAEAEEKTSKAASFPQLPLDCRGGPRDGPSN LQGSPGPCLASLHLPLSPGLPDSMELAKNKSKKRRNRTTFSTFQLEELEKVFQKTHYPDV YAREQLALRTDLTEARVQVWFQNRRAKWRKRERYGKIQEGRNPFTAAYDISVLPRTDSHP QLQNSLWASPGSGSPGGPCLVSPEGIPSPCMSPYSHPHGSVAGFMGVPAPSAAHPGIYSI HGFPPTLGGHSFEPSSDGDYKSPSLVSLRVKPKEPPGLLNWTT
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Position Chain Variation Link
complement(290)-g, cdbSNP:12756321
complement(326)-g, cdbSNP:113980045
complement(346)-g, adbSNP:842021
complement(394)-g, adbSNP:146519121
complement(436)-g, adbSNP:146795178
complement(437)-t, cdbSNP:138645472
complement(453)-t, cdbSNP:111275942
complement(473)-g, adbSNP:139794205
complement(476)-g, cdbSNP:75373920
complement(502)-t, cdbSNP:150660098
complement(504)-t, cdbSNP:199713385
complement(525)-c, adbSNP:200156688
complement(568)-g, adbSNP:147534614
complement(569)-t, cdbSNP:143366374
complement(576)-g, adbSNP:201420718
complement(590)-g, cdbSNP:121908167
complement(595)-t, cdbSNP:202179649
complement(631)-t, adbSNP:121908169
complement(635)-t, cdbSNP:121908168
complement(654)-t, cdbSNP:199983753
complement(674)-t, cdbSNP:121908170
complement(675)-c, adbSNP:112456669
complement(696)-dbSNP:
complement(696)-g, adbSNP:121908166
complement(702)-t, cdbSNP:705279
complement(715)-t, cdbSNP:113851340
complement(726)-t, cdbSNP:150129126
complement(732)-g, cdbSNP:201764848
complement(763)-t, cdbSNP:186135023
complement(765)-g, adbSNP:140822231
complement(777)-c, adbSNP:199801560
complement(788)-g, cdbSNP:12749726
complement(791)-g, adbSNP:145535704
complement(792)-t, cdbSNP:199753639
complement(836)-dbSNP:
complement(836)-g, cdbSNP:145995775
complement(917)-t, gdbSNP:189671232
complement(919)-g, adbSNP:142284688
complement(963)-g, adbSNP:145253023
complement(985)-g, adbSNP:200860667
complement(1003)-g, adbSNP:34775503
complement(1007)-, gdbSNP:5777003
complement(1069)-t, cdbSNP:139199337
complement(1086)-t, gdbSNP:141042736
complement(1096)-g, adbSNP:35010218
complement(1110)-t, cdbSNP:201913545
complement(1123)-c, adbSNP:199646849
complement(1124)-t, cdbSNP:199955428
complement(1177..1178)-, ctgggdbSNP:71580516
complement(1183..1184)-, cttcctccgtggtgtccaggcaggggtgdbSNP:71789296
complement(1183)-c, adbSNP:201416320
complement(1184..1185)-, cttcctccgtggtgtccaggcaggggtg, ggdbSNP:57429950
complement(1187..1188)-, ggtgcttcctccgtggtgtccaggcaggdbSNP:139173949
complement(1188..1189)-, ggtgcttcctccgtggtgtccaggcaggdbSNP:144523285
complement(1189)-g, adbSNP:4520416
complement(1194..1195)-, aggcagaggtgcttcctccgtggtgtccdbSNP:33978590
complement(1195..1196)-, aggcagaggtgcttcctccgtggtgtccdbSNP:6143367
complement(1206)-g, cdbSNP:9792865
complement(1211..1212)-, cttcctccgtggtgtccaggcaggggtgdbSNP:150626565
complement(1261)-t, g, adbSNP:12042664
complement(1303)-t, cdbSNP:181219574
complement(1329)-t, cdbSNP:116760307
complement(1355)-g, adbSNP:45610035
complement(1375)-g, cdbSNP:188259441
complement(1432)-g, cdbSNP:1027463
Gene SymbolALX3
Gene SynonymFND1
Chromosome1
Locus Map1p13.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_006492 Homo sapiens ALX homeobox 3 (ALX3), mRNA. Full Length $428.62
ORF Sequence $299.28
Title Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies .
Author Ribeiro-Bicudo,L.A., Quiezi,R.G., Guion-Almeida,M.L., Legnaro,C. and Richieri-Costa,A.
Journal Am. J. Med. Genet. A 158A (5), 1233-1235 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title Clinical and genetic characterization of frontorhiny: report of 3 novel cases and discussion of the surgical management .
Author Pham,N.S., Rafii,A., Liu,J., Boyadjiev,S.A. and Tollefson,T.T.
Journal Arch Facial Plast Surg 13 (6), 415-420 (2011)
Title Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia .
Author Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
Journal PLoS ONE 5 (7), E11493 (2010)
Title Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene .
Author Twigg,S.R., Versnel,S.L., Nurnberg,G., Lees,M.M., Bhat,M., Hammond,P., Hennekam,R.C., Hoogeboom,A.J., Hurst,J.A., Johnson,D., Robinson,A.A., Scambler,P.J., Gerrelli,D., Nurnberg,P., Mathijssen,I.M. and Wilkie,A.O.
Journal Am. J. Hum. Genet. 84 (5), 698-705 (2009)
Title The homeoprotein Alx3 expressed in pancreatic beta-cells regulates insulin gene transcription by interacting with the basic helix-loop-helix protein E47 .
Author Mirasierra,M. and Vallejo,M.
Journal Mol. Endocrinol. 20 (11), 2876-2889 (2006)
Title The homeoprotein Alx3 contains discrete functional domains and exhibits cell-specific and selective monomeric binding and transactivation .
Author Perez-Villamil,B., Mirasierra,M. and Vallejo,M.
Journal J. Biol. Chem. 279 (36), 38062-38071 (2004)
Title Combined restriction landmark genomic scanning and virtual genome scans identify a novel human homeobox gene, ALX3, that is hypermethylated in neuroblastoma .
Author Wimmer,K., Zhu Xx,X.X., Rouillard,J.M., Ambros,P.F., Lamb,B.J., Kuick,R., Eckart,M., Weinhausl,A., Fonatsch,C. and Hanash,S.M.
Journal Genes Chromosomes Cancer 33 (3), 285-294 (2002)
Title Pancreatic beta cells express a diverse set of homeobox genes .
Author Rudnick,A., Ling,T.Y., Odagiri,H., Rutter,W.J. and German,M.S.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (25), 12203-12207 (1994)

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