DLX6_HUMAN
ID DLX6_HUMAN Reviewed; 175 AA.
AC P56179; A4D1I2; B3KSQ0; J3KR92; Q3ZAR6; Q9UPL2;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2001, sequence version 2.
DT 03-AUG-2022, entry version 183.
DE RecName: Full=Homeobox protein DLX-6;
GN Name=DLX6;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX 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., Wylie K.,
RA Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA Mardis E.R., 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., Simms E.,
RA Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA Wilson R.K.;
RT "The DNA sequence of human chromosome 7.";
RL Nature 424:157-164(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Neuroblastoma;
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., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., 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., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA 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 [6]
RP NUCLEOTIDE SEQUENCE OF 49-114.
RC TISSUE=Embryo;
RX 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., Boncinelli E.;
RT "Cloning and characterization of two members of the vertebrate Dlx gene
RT family.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:2250-2254(1994).
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P56179-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P56179-2; Sequence=VSP_040732;
CC Name=3;
CC IsoId=P56179-3; Sequence=VSP_047248;
CC -!- DEVELOPMENTAL STAGE: First expressed in embryos at 8.5-9 days in facial
CC and branchial arch mesenchyme, otic vesicles and frontonasal ectoderm
CC around olfactory placodes, a day later expression is seen in the
CC developing forebrain in primordia of the ganglionic eminence and
CC ventral diencephalic regions. In day 12.5 embryos, expressed in the
CC brain and bones, and also in all skeletal structures of midgestation
CC embryos after the first cartilage formation, and expression
CC progressively declines in both brain and skeleton in day 15 embryos.
CC -!- SIMILARITY: Belongs to the distal-less homeobox family. {ECO:0000305}.
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DR EMBL; AC004774; AAC17832.1; -; Genomic_DNA.
DR EMBL; CH236949; EAL24122.1; -; Genomic_DNA.
DR EMBL; CH471091; EAW76744.1; -; Genomic_DNA.
DR EMBL; BC069363; AAH69363.1; -; mRNA.
DR EMBL; BC103688; AAI03689.1; -; mRNA.
DR EMBL; BC103689; AAI03690.1; -; mRNA.
DR EMBL; BC103690; AAI03691.1; -; mRNA.
DR EMBL; BC109381; AAI09382.1; -; mRNA.
DR EMBL; AK094086; BAG52812.1; -; mRNA.
DR CCDS; CCDS47647.2; -. [P56179-3]
DR PIR; D53495; D53495.
DR RefSeq; NP_005213.3; NM_005222.3. [P56179-3]
DR AlphaFoldDB; P56179; -.
DR SMR; P56179; -.
DR BioGRID; 108094; 26.
DR IntAct; P56179; 2.
DR STRING; 9606.ENSP00000428480; -.
DR iPTMnet; P56179; -.
DR PhosphoSitePlus; P56179; -.
DR BioMuta; DLX6; -.
DR DMDM; 12644330; -.
DR jPOST; P56179; -.
DR MassIVE; P56179; -.
DR PaxDb; P56179; -.
DR PeptideAtlas; P56179; -.
DR PRIDE; P56179; -.
DR ProteomicsDB; 56893; -. [P56179-1]
DR ProteomicsDB; 56894; -. [P56179-2]
DR Antibodypedia; 30192; 187 antibodies from 24 providers.
DR DNASU; 1750; -.
DR Ensembl; ENST00000518156.3; ENSP00000428480.2; ENSG00000006377.11. [P56179-3]
DR GeneID; 1750; -.
DR KEGG; hsa:1750; -.
DR MANE-Select; ENST00000518156.3; ENSP00000428480.2; NM_005222.4; NP_005213.3. [P56179-3]
DR UCSC; uc022ahu.2; human. [P56179-1]
DR CTD; 1750; -.
DR DisGeNET; 1750; -.
DR GeneCards; DLX6; -.
DR HGNC; HGNC:2919; DLX6.
DR HPA; ENSG00000006377; Tissue enhanced (brain, testis).
DR MalaCards; DLX6; -.
DR MIM; 600030; gene.
DR neXtProt; NX_P56179; -.
DR OpenTargets; ENSG00000006377; -.
DR Orphanet; 2440; Isolated split hand-split foot malformation.
DR PharmGKB; PA27374; -.
DR VEuPathDB; HostDB:ENSG00000006377; -.
DR eggNOG; KOG0850; Eukaryota.
DR GeneTree; ENSGT00940000157683; -.
DR HOGENOM; CLU_074733_2_0_1; -.
DR InParanoid; P56179; -.
DR OMA; MAGGHYP; -.
DR OrthoDB; 1416398at2759; -.
DR PhylomeDB; P56179; -.
DR TreeFam; TF315720; -.
DR PathwayCommons; P56179; -.
DR Reactome; R-HSA-8939902; Regulation of RUNX2 expression and activity.
DR SignaLink; P56179; -.
DR BioGRID-ORCS; 1750; 11 hits in 1086 CRISPR screens.
DR GeneWiki; DLX6; -.
DR GenomeRNAi; 1750; -.
DR Pharos; P56179; Tbio.
DR PRO; PR:P56179; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; P56179; protein.
DR Bgee; ENSG00000006377; Expressed in buccal mucosa cell and 97 other tissues.
DR ExpressionAtlas; P56179; baseline and differential.
DR Genevisible; P56179; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; TAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0048646; P:anatomical structure formation involved in morphogenesis; IEA:Ensembl.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR GO; GO:0030326; P:embryonic limb morphogenesis; IEA:Ensembl.
DR GO; GO:0030855; P:epithelial cell differentiation; IEA:Ensembl.
DR GO; GO:0060322; P:head development; IEA:Ensembl.
DR GO; GO:0042472; P:inner ear morphogenesis; IEA:Ensembl.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0050679; P:positive regulation of epithelial cell proliferation; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060021; P:roof of mouth development; IEA:Ensembl.
DR GO; GO:0001501; P:skeletal system development; TAS:ProtInc.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR000047; HTH_motif.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome.
FT CHAIN 1..175
FT /note="Homeobox protein DLX-6"
FT /id="PRO_0000049034"
FT DNA_BIND 49..108
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..32
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 109..131
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1
FT /note="M -> MMTMTTMADGLEGQDSSKSAFMEFGQQQQQQHSPAMAGAHYPLHCLH
FT SAAAAAAAGSHHHHHHQHHHHGSPYASGGGNSYNHRSLAAYPYM (in isoform
FT 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_040732"
FT VAR_SEQ 1
FT /note="M -> MMTMTTMADGLEGQDSSKSAFMEFGQQQQQQQQQQQQQQQQQQQPPP
FT PPPPPPQPHSQQSSPAMAGAHYPLHCLHSAAAAAAAGSHHHHHHQHHHHGSPYASGGGN
FT SYNHRSLAAYPYM (in isoform 3)"
FT /evidence="ECO:0000305"
FT /id="VSP_047248"
SQ SEQUENCE 175 AA; 19708 MW; F5552738D7E0CB84 CRC64;
MSHSQHSPYL QSYHNSSAAA QTRGDDTDQQ KTTVIENGEI RFNGKGKKIR KPRTIYSSLQ
LQALNHRFQQ TQYLALPERA ELAASLGLTQ TQVKIWFQNK RSKFKKLLKQ GSNPHESDPL
QGSAALSPRS PALPPVWDVS ASAKGVSMPP NSYMPGYSHW YSSPHQDTMQ RPQMM
