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Homo sapiens distal-less homeobox 5 (DLX5), mRNA.


RefSeq Accession Definition Services Price Order
NM_005221 Homo sapiens distal-less homeobox 5 (DLX5), mRNA. ORF Sequence $252.30
Peptide Services
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RefSeq Version NM_005221.5, 84043959
Length 1424 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens distal-less homeobox 5 (DLX5), mRNA.
Product homeobox protein DLX-5
Comment

Summary: This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008].

RefSeq NP_005212.1
CDS 209..1078
Misc Feature(1)203..205
Misc Feature(2)302..562
Misc Feature(3)302..562
Misc Feature(4)620..790
Misc Feature(5)order(620..634,638..640,689..691,707..709,746..748,
Misc Feature(6)order(626..628,635..637,755..757,764..769,776..778)
Exon (1)1..563
Gene:DLX5
Gene Synonym:SHFM1D
Exon (2)564..748
Gene:DLX5
Gene Synonym:SHFM1D
Exon (3)749..1424
Gene:DLX5
Gene Synonym:SHFM1D
Translation MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCS PTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEK EVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQ VKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAH PPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY
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Position Chain Variation Link
complement(40)-dbSNP:
complement(40)-t, adbSNP:188114093
complement(261)-t, cdbSNP:59322533
complement(310)-g, cdbSNP:147904307
complement(391)-g, adbSNP:144772458
complement(395)-t, adbSNP:140706964
complement(438)-t, cdbSNP:147255037
complement(447)-g, adbSNP:149635296
complement(460)-g, cdbSNP:61753628
complement(466)-g, adbSNP:150866607
complement(474)-t, gdbSNP:141521941
complement(520)-g, adbSNP:200820594
complement(541)-g, cdbSNP:201376176
complement(545)-t, cdbSNP:201841970
complement(572)-dbSNP:
complement(572)-g, cdbSNP:201233212
complement(598)-t, cdbSNP:138986105
complement(602)-t, cdbSNP:185529928
complement(788)-dbSNP:
complement(788)-t, gdbSNP:199567160
complement(815)-g, adbSNP:146762155
complement(816)-g, cdbSNP:145966633
complement(900)-t, cdbSNP:142492086
complement(910)-g, c, adbSNP:35273378
complement(916)-t, gdbSNP:143457052
complement(920)-t, gdbSNP:148894146
complement(924)-g, cdbSNP:200799043
complement(926)-g, adbSNP:201666211
complement(968)-g, cdbSNP:199725569
complement(1028)-g, cdbSNP:199678276
complement(1043)-g, adbSNP:138650319
complement(1099)-g, adbSNP:200468189
complement(1240..1241)-, gdbSNP:3214218
complement(1241..1242)-t, g, c, adbSNP:5886002
complement(1241..1242)-, gdbSNP:112772747
complement(1242)-g, adbSNP:77382615
Gene SymbolDLX5
Gene SynonymSHFM1D
Chromosome7
Locus Map7q22
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_005221 Homo sapiens distal-less homeobox 5 (DLX5), mRNA. Full Length $412.96
ORF Sequence $252.30
Title Methylation alterations at imprinted genes detected among long-term shiftworkers .
Author Jacobs,D.I., Hansen,J., Fu,A., Stevens,R.G., Tjonneland,A., Vogel,U.B., Zheng,T. and Zhu,Y.
Journal Environ. Mol. Mutagen. 54 (2), 141-146 (2013)
Title Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway .
Author Vera-Carbonell,A., Moya-Quiles,M.R., Ballesta-Martinez,M., Lopez-Gonzalez,V., Bafalliu,J.A., Guillen-Navarro,E. and Lopez-Exposito,I.
Journal Gene 497 (2), 292-297 (2012)
Title Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation .
Author Shamseldin,H.E., Faden,M.A., Alashram,W. and Alkuraya,F.S.
Journal J. Med. Genet. 49 (1), 16-20 (2012)
Title [Changes in the expression of Dlx5, Msx2, and Dlx5/Msx2 in hPDLSCs loaded with cyclic tensile stress] .
Author Sun,C.X., Zhang,L.K., Feng,X.X. and Zhao,Z.H.
Journal Sichuan Da Xue Xue Bao Yi Xue Ban 42 (6), 823-826 (2011)
Title Tumor necrosis factor-alpha accelerates the calcification of human aortic valve interstitial cells obtained from patients with calcific aortic valve stenosis via the BMP2-Dlx5 pathway .
Author Yu,Z., Seya,K., Daitoku,K., Motomura,S., Fukuda,I. and Furukawa,K.
Journal J. Pharmacol. Exp. Ther. 337 (1), 16-23 (2011)
Title DLX-1, DLX-2, and DLX-5 expression define distinct stages of basal forebrain differentiation .
Author Eisenstat,D.D., Liu,J.K., Mione,M., Zhong,W., Yu,G., Anderson,S.A., Ghattas,I., Puelles,L. and Rubenstein,J.L.
Journal J. Comp. Neurol. 414 (2), 217-237 (1999)
Title The RRM domain of MINT, a novel Msx2 binding protein, recognizes and regulates the rat osteocalcin promoter .
Author Newberry,E.P., Latifi,T. and Towler,D.A.
Journal Biochemistry 38 (33), 10678-10690 (1999)
Title Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism .
Author Zhang,H., Hu,G., Wang,H., Sciavolino,P., Iler,N., Shen,M.M. and Abate-Shen,C.
Journal Mol. Cell. Biol. 17 (5), 2920-2932 (1997)
Title Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly .
Author Scherer,S.W., Poorkaj,P., Massa,H., Soder,S., Allen,T., Nunes,M., Geshuri,D., Wong,E., Belloni,E., Little,S. et al.
Journal Hum. Mol. Genet. 3 (8), 1345-1354 (1994)
Title Cloning and characterization of two members of the vertebrate Dlx gene family .
Author Simeone,A., Acampora,D., Pannese,M., D'Esposito,M., Stornaiuolo,A., Gulisano,M., Mallamaci,A., Kastury,K., Druck,T., Huebner,K. et al.
Journal Proc. Natl. Acad. Sci. U.S.A. 91 (6), 2250-2254 (1994)

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