ID DLX5_HUMAN Reviewed; 289 AA. AC P56178; Q9UPL1; DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot. DT 11-JAN-2001, sequence version 2. DT 03-NOV-2009, entry version 85. DE RecName: Full=Homeobox protein DLX-5; GN Name=DLX5; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Placenta; RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX MEDLINE=22737999; PubMed=12853948; DOI=10.1038/nature01782; RA Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., RA Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., RA Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., RA Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., RA Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., RA Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., RA Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., RA Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., RA Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., RA Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., RA Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., RA Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., RA Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., RA Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., RA Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., RA Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., RA Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., RA Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., RA Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., RA Waterston R.H., Wilson R.K.; RT "The DNA sequence of human chromosome 7."; RL Nature 424:157-164(2003). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RC TISSUE=Lung; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [4] RP NUCLEOTIDE SEQUENCE OF 137-202. RC TISSUE=Embryo; RX MEDLINE=94181570; PubMed=7907794; DOI=10.1073/pnas.91.6.2250; RA Simeone A., Acampora D., Pannese M., D'Esposito M., Stornaiuolo A., RA Gulisano M., Mallamaci A., Kastury K., Druck T., Huebner K., RA Boncinelli E.; RT "Cloning and characterization of two members of the vertebrate Dlx RT gene family."; RL Proc. Natl. Acad. Sci. U.S.A. 91:2250-2254(1994). RN [5] RP INTERACTION WITH G22P1. RC TISSUE=Osteoblast; RX MEDLINE=22241900; PubMed=12145306; DOI=10.1074/jbc.M206482200; RA Willis D.M., Loewy A.P., Charlton-Kachigian N., Shao J.-S., RA Ornitz D.M., Towler D.A.; RT "Regulation of osteocalcin gene expression by a novel Ku antigen RT transcription factor complex."; RL J. Biol. Chem. 277:37280-37291(2002). RN [6] RP STRUCTURE BY NMR OF 138-194. RG RIKEN structural genomics initiative (RSGI); RT "The solution structure of the homeobox domain of human homeobox RT protein DLX-5."; RL Submitted (OCT-2006) to the PDB data bank. CC -!- SUBUNIT: Interacts with G22P1 (Ku70). CC -!- SUBCELLULAR LOCATION: Nucleus (Potential). CC -!- DEVELOPMENTAL STAGE: First expressed in embryos at 8.5-9 days in CC facial and branchial arch mesenchyme, otic vesicles and CC frontonasal ectoderm around olfactory placodes, a day later CC expression is seen in the developing forebrain in primordia of the CC ganglionic eminence and ventral diencephalic regions. In day 12.5 CC embryos, expressed in the brain and bones, and also in all CC skeletal structures of midgestation embryos after the first CC cartilage formation. Expression remains unaltered in both brain CC and skeleton in day 15 embryos and slowly decreases in day 17 CC embryos. CC -!- SIMILARITY: Belongs to the distal-less homeobox family. CC -!- SIMILARITY: Contains 1 homeobox DNA-binding domain. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; AK023493; BAB14587.1; -; mRNA. DR EMBL; AC004774; AAC17833.1; -; Genomic_DNA. DR EMBL; BC006226; AAH06226.1; -; mRNA. DR IPI; IPI00008192; -. DR PIR; C53495; C53495. DR RefSeq; NP_005212.1; -. DR UniGene; Hs.99348; -. DR PDB; 2DJN; NMR; -; A=138-194. DR PDBsum; 2DJN; -. DR STRING; P56178; -. DR PhosphoSite; P56178; -. DR PRIDE; P56178; -. DR Ensembl; ENST00000222598; ENSP00000222598; ENSG00000105880; Homo sapiens. DR GeneID; 1749; -. DR KEGG; hsa:1749; -. DR UCSC; uc003uon.1; human. DR CTD; 1749; -. DR GeneCards; GC07M096487; -. DR H-InvDB; HIX0006872; -. DR HGNC; HGNC:2918; DLX5. DR HPA; HPA005670; -. DR MIM; 600028; gene. DR PharmGKB; PA27373; -. DR HOGENOM; P56178; -. DR HOVERGEN; P56178; -. DR OMA; SPYHQYG; -. DR NextBio; 7097; -. DR ArrayExpress; P56178; -. DR Bgee; P56178; -. DR CleanEx; HS_DLX5; -. DR Genevestigator; P56178; -. DR GermOnline; ENSG00000105880; Homo sapiens. DR GO; GO:0005634; C:nucleus; IDA:HPA. DR GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro. DR GO; GO:0003700; F:transcription factor activity; IEA:InterPro. DR GO; GO:0001501; P:skeletal system development; TAS:ProtInc. DR InterPro; IPR001356; Homeobox. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR020479; Homeobox_region. DR InterPro; IPR012287; Homeodomain-rel. DR InterPro; IPR000047; HTH_lambrepressr. DR Gene3D; G3DSA:1.10.10.60; Homeodomain-rel; 1. DR Pfam; PF00046; Homeobox; 1. DR PRINTS; PR00024; HOMEOBOX. DR PRINTS; PR00031; HTHREPRESSR. DR ProDom; PD000010; Homeobox; 1. DR SMART; SM00389; HOX; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. PE 1: Evidence at protein level; KW 3D-structure; Complete proteome; Developmental protein; DNA-binding; KW Homeobox; Nucleus; Polymorphism. FT CHAIN 1 289 Homeobox protein DLX-5. FT /FTId=PRO_0000049031. FT DNA_BIND 137 196 Homeobox. FT VARIANT 234 234 S -> R (in dbSNP:rs35273378). FT /FTId=VAR_033874. FT HELIX 146 156 FT HELIX 164 173 FT HELIX 178 190 SQ SEQUENCE 289 AA; 31540 MW; 5BC9970B12E30554 CRC64; MTGVFDRRVP SIRSGDFQAP FQTSAAMHHP SQESPTLPES SATDSDYYSP TGGAPHGYCS PTSASYGKAL NPYQYQYHGV NGSAGSYPAK AYADYSYASS YHQYGGAYNR VPSATNQPEK EVTEPEVRMV NGKPKKVRKP RTIYSSFQLA ALQRRFQKTQ YLALPERAEL AASLGLTQTQ VKIWFQNKRS KIKKIMKNGE MPPEHSPSSS DPMACNSPQS PAVWEPQGSS RSLSHHPHAH PPTSNQSPAS SYLENSASWY TSAASSINSH LPPPGSLQHP LALASGTLY //