DMBX1_MOUSE
ID DMBX1_MOUSE Reviewed; 381 AA.
AC Q91ZK4; B1ASG1; Q8CH43; Q8K4U6; Q8VHG8; Q91ZK3;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Diencephalon/mesencephalon homeobox protein 1;
DE AltName: Full=Diencephalon/mesencephalon-expressed brain homeobox gene 1 protein;
DE AltName: Full=Orthodenticle homolog 3;
DE AltName: Full=Paired-like homeobox protein DMBX1;
DE AltName: Full=Paired-type homeobox Atx;
GN Name=Dmbx1 {ECO:0000312|MGI:MGI:2153518};
GN Synonyms=Cdmx {ECO:0000312|EMBL:AAL68836.1},
GN Mbx {ECO:0000303|PubMed:11914943}, Otx3 {ECO:0000312|MGI:MGI:2153518},
GN PaxB {ECO:0000312|EMBL:BAC00919.1};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAN76724.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE SPECIFICITY.
RC TISSUE=Embryo {ECO:0000269|PubMed:11914943};
RX PubMed=11914943; DOI=10.1007/s00427-002-0217-4;
RA Miyamoto T., Kawahara A., Teufel A., Mukhopadhyay M., Zhao Y., Dawid I.B.,
RA Westphal H.;
RT "Mbx, a novel mouse homeobox gene.";
RL Dev. Genes Evol. 212:104-106(2002).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAM78514.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:AAM78514.1};
RX PubMed=12111214; DOI=10.1007/s00427-002-0244-1;
RA Takahashi T., Holland P.W.H., Cohn M.J., Shimizu K., Kurokawa M., Hirai H.;
RT "An orphan PRD class homeobox gene expressed in mouse brain and limb
RT development.";
RL Dev. Genes Evol. 212:293-297(2002).
RN [3] {ECO:0000305, ECO:0000312|EMBL:BAC00919.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND DEVELOPMENTAL STAGE.
RX PubMed=12055180; DOI=10.1074/jbc.c100767200;
RA Zhang Y., Miki T., Iwanaga T., Koseki Y., Okuno M., Sunaga Y., Ozaki N.,
RA Yano H., Koseki H., Seino S.;
RT "Identification, tissue expression, and functional characterization of
RT Otx3, a novel member of the Otx family.";
RL J. Biol. Chem. 277:28065-28069(2002).
RN [4] {ECO:0000305, ECO:0000312|EMBL:AAL30508.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC STRAIN=SWR/J {ECO:0000312|EMBL:AAL30508.1};
RX PubMed=11744391; DOI=10.1016/s0925-4773(01)00587-1;
RA Ohtoshi A., Nishijima I., Justice M.J., Behringer R.R.;
RT "Dmbx1, a novel evolutionarily conserved paired-like homeobox gene
RT expressed in the brain of mouse embryos.";
RL Mech. Dev. 110:241-244(2002).
RN [5] {ECO:0000305, ECO:0000312|EMBL:AAL68836.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND DEVELOPMENTAL STAGE.
RC STRAIN=CD-1 {ECO:0000312|EMBL:AAL68836.1};
RX PubMed=12175515; DOI=10.1016/s0925-4773(02)00078-3;
RA Broccoli V., Colombo E., Cossu G.;
RT "Dmbx1 is a paired-box containing gene specifically expressed in the caudal
RT most brain structures.";
RL Mech. Dev. 114:219-223(2002).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [7] {ECO:0000305, ECO:0000312|EMBL:AAH50912.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J {ECO:0000312|EMBL:AAH50912.1};
RC TISSUE=Brain {ECO:0000312|EMBL:AAH50912.1};
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 [8] {ECO:0000305, ECO:0000312|EMBL:AAL66343.1}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-282 (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Embryo {ECO:0000269|PubMed:12175514};
RX PubMed=12175514; DOI=10.1016/s0925-4773(02)00067-9;
RA Gogoi R.N., Schubert F.R., Martinez-Barbera J.-P., Acampora D., Simeone A.,
RA Lumsden A.;
RT "The paired-type homeobox gene Dmbx1 marks the midbrain and pretectum.";
RL Mech. Dev. 114:213-217(2002).
RN [9] {ECO:0000305}
RP FUNCTION.
RX PubMed=15314164; DOI=10.1128/mcb.24.17.7548-7558.2004;
RA Ohtoshi A., Behringer R.R.;
RT "Neonatal lethality, dwarfism, and abnormal brain development in Dmbx1
RT mutant mice.";
RL Mol. Cell. Biol. 24:7548-7558(2004).
RN [10] {ECO:0000305}
RP FUNCTION, INTERACTION WITH OTX2, AND DOMAIN.
RX PubMed=15890343; DOI=10.1016/j.febslet.2005.04.042;
RA Kimura K., Miki T., Shibasaki T., Zhang Y., Ogawa M., Saisho H., Okuno M.,
RA Iwanaga T., Seino S.;
RT "Functional analysis of transcriptional repressor Otx3/Dmbx1.";
RL FEBS Lett. 579:2926-2932(2005).
CC -!- FUNCTION: Functions as a transcriptional repressor. May repress OTX2-
CC mediated transactivation by forming a heterodimer with OTX2 on the P3C
CC (5'-TAATCCGATTA-3') sequence. Required for brain development, neonatal
CC survival, postnatal growth, and nursing ability.
CC {ECO:0000269|PubMed:11914943, ECO:0000269|PubMed:12055180,
CC ECO:0000269|PubMed:15314164, ECO:0000269|PubMed:15890343}.
CC -!- SUBUNIT: Homodimer or heterodimer. Forms heterodimers with OTX2.
CC {ECO:0000269|PubMed:15890343}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35137,
CC ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-
CC ProRule:PRU00138}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1 {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:11914943,
CC ECO:0000269|PubMed:12175514, ECO:0000269|PubMed:12175515};
CC IsoId=Q91ZK4-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:12055180,
CC ECO:0000269|PubMed:12111214};
CC IsoId=Q91ZK4-2; Sequence=VSP_052252;
CC -!- TISSUE SPECIFICITY: Expressed in adult brain, stomach, and testis.
CC Expressed in the developing diencephalon, midbrain and hindbrain.
CC During limb development, expressed in a temporal pattern with
CC expression being first restricted to the forelimbs and then
CC subsequently to the hindlimbs. {ECO:0000269|PubMed:11744391,
CC ECO:0000269|PubMed:11914943, ECO:0000269|PubMed:12111214,
CC ECO:0000269|PubMed:12175514}.
CC -!- DEVELOPMENTAL STAGE: Detected in embryo from 10.5 to 13.5 dpc. Strongly
CC expressed from 9.5 to 11.5 dpc in the diencephalon, mesencephalon,
CC metencephalon, myeloencephalon, and the developing eye.
CC {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:12055180,
CC ECO:0000269|PubMed:12175515}.
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC00919.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF448118; AAN76724.1; -; mRNA.
DR EMBL; AF499446; AAM78514.1; -; mRNA.
DR EMBL; AB037698; BAC00919.1; ALT_INIT; mRNA.
DR EMBL; AF421857; AAL30508.1; -; mRNA.
DR EMBL; AF421858; AAL30509.1; -; mRNA.
DR EMBL; AF463513; AAL68836.1; -; mRNA.
DR EMBL; AL627105; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC050912; AAH50912.1; -; mRNA.
DR EMBL; AF461039; AAL66343.1; -; mRNA.
DR CCDS; CCDS18500.1; -. [Q91ZK4-2]
DR RefSeq; NP_001020738.1; NM_001025567.1. [Q91ZK4-2]
DR RefSeq; NP_570935.3; NM_130865.3. [Q91ZK4-1]
DR RefSeq; XP_017175447.1; XM_017319958.1. [Q91ZK4-1]
DR RefSeq; XP_017175448.1; XM_017319959.1. [Q91ZK4-1]
DR AlphaFoldDB; Q91ZK4; -.
DR SMR; Q91ZK4; -.
DR BioGRID; 228255; 1.
DR CORUM; Q91ZK4; -.
DR MINT; Q91ZK4; -.
DR STRING; 10090.ENSMUSP00000120320; -.
DR iPTMnet; Q91ZK4; -.
DR PhosphoSitePlus; Q91ZK4; -.
DR PaxDb; Q91ZK4; -.
DR PRIDE; Q91ZK4; -.
DR Antibodypedia; 32805; 84 antibodies from 17 providers.
DR DNASU; 140477; -.
DR Ensembl; ENSMUST00000064806; ENSMUSP00000134457; ENSMUSG00000028707. [Q91ZK4-2]
DR Ensembl; ENSMUST00000084338; ENSMUSP00000081366; ENSMUSG00000028707. [Q91ZK4-1]
DR Ensembl; ENSMUST00000124071; ENSMUSP00000120320; ENSMUSG00000028707. [Q91ZK4-2]
DR GeneID; 140477; -.
DR KEGG; mmu:140477; -.
DR UCSC; uc008ufp.1; mouse. [Q91ZK4-2]
DR UCSC; uc008ufr.1; mouse. [Q91ZK4-1]
DR CTD; 127343; -.
DR MGI; MGI:2153518; Dmbx1.
DR VEuPathDB; HostDB:ENSMUSG00000028707; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000155505; -.
DR HOGENOM; CLU_060969_0_0_1; -.
DR InParanoid; Q91ZK4; -.
DR OMA; NSLNAMY; -.
DR OrthoDB; 1270742at2759; -.
DR PhylomeDB; Q91ZK4; -.
DR TreeFam; TF351609; -.
DR BioGRID-ORCS; 140477; 1 hit in 73 CRISPR screens.
DR PRO; PR:Q91ZK4; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q91ZK4; protein.
DR Bgee; ENSMUSG00000028707; Expressed in presumptive midbrain and 77 other tissues.
DR Genevisible; Q91ZK4; MM.
DR GO; GO:0005634; C:nucleus; IC:UniProtKB.
DR GO; GO:0005667; C:transcription regulator complex; IDA:MGI.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; ISO:MGI.
DR GO; GO:0008343; P:adult feeding behavior; IMP:MGI.
DR GO; GO:0008344; P:adult locomotory behavior; IMP:MGI.
DR GO; GO:0007420; P:brain development; IEP:UniProtKB.
DR GO; GO:0007417; P:central nervous system development; IEP:UniProtKB.
DR GO; GO:0048589; P:developmental growth; IEP:UniProtKB.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR003654; OAR_dom.
DR Pfam; PF00046; Homeodomain; 1.
DR Pfam; PF03826; OAR; 1.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
DR PROSITE; PS50803; OAR; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; DNA-binding; Homeobox;
KW Nucleus; Reference proteome; Repressor; Transcription;
KW Transcription regulation.
FT CHAIN 1..381
FT /note="Diencephalon/mesencephalon homeobox protein 1"
FT /id="PRO_0000262955"
FT DNA_BIND 71..130
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..156
FT /note="Interaction with OTX2 and is required for repressor
FT activity"
FT /evidence="ECO:0000269|PubMed:15890343"
FT REGION 129..250
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 358..371
FT /note="OAR"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00138"
FT COMPBIAS 131..152
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 192..214
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 52..56
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11744391,
FT ECO:0000303|PubMed:12055180, ECO:0000303|PubMed:12111214,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_052252"
FT CONFLICT 206
FT /note="E -> G (in Ref. 1; AAN76724)"
FT /evidence="ECO:0000305"
FT CONFLICT 279
FT /note="M -> V (in Ref. 8; AAL66343)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 381 AA; 41115 MW; F180D3BAE1D2CFAE CRC64;
MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL AGCTFQDIIL
EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM RERLAMCTNL PEARVQVWFK
NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE GKVEAPASDT QLETEQPPGL PSGDPPAELQ
LSLSEQSASE SAPEDQLDRE EDSRAEEPKA EKSPGSESKV PGCKRGSPKA DSPGSLAITP
AAPGGGLLGP SHSYSSSPLS LFRLQEQFRQ HMAATNNLMH YSSFEVGGPA PAAAAAAAAA
VPYLGVNMAP LSSLHCQSYY QSLSAAAAAH QGVWGSPLLP APPTGLAPAS AALNSKTTSI
ENLRLRAKQH AASLGLDTLP N
