GenomeNet

Database: UniProt
Entry: Q91ZK4
LinkDB: Q91ZK4
Original site: Q91ZK4 
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   24-JAN-2024, entry version 163.
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};
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
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.ENSMUSP00000134457; -.
DR   iPTMnet; Q91ZK4; -.
DR   PhosphoSitePlus; Q91ZK4; -.
DR   PaxDb; 10090-ENSMUSP00000120320; -.
DR   Antibodypedia; 32805; 85 antibodies from 18 providers.
DR   DNASU; 140477; -.
DR   Ensembl; ENSMUST00000064806.13; ENSMUSP00000134457.2; ENSMUSG00000028707.16. [Q91ZK4-2]
DR   Ensembl; ENSMUST00000084338.7; ENSMUSP00000081366.7; ENSMUSG00000028707.16. [Q91ZK4-1]
DR   Ensembl; ENSMUST00000124071.9; ENSMUSP00000120320.3; ENSMUSG00000028707.16. [Q91ZK4-2]
DR   GeneID; 140477; -.
DR   KEGG; mmu:140477; -.
DR   UCSC; uc008ufp.1; mouse. [Q91ZK4-2]
DR   UCSC; uc008ufr.1; mouse. [Q91ZK4-1]
DR   AGR; MGI:2153518; -.
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; 4227585at2759; -.
DR   PhylomeDB; Q91ZK4; -.
DR   TreeFam; TF351609; -.
DR   BioGRID-ORCS; 140477; 1 hit in 78 CRISPR screens.
DR   PRO; PR:Q91ZK4; -.
DR   Proteomes; UP000000589; Chromosome 4.
DR   RNAct; Q91ZK4; Protein.
DR   Bgee; ENSMUSG00000028707; Expressed in presumptive midbrain and 78 other cell types or 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:0045892; P:negative regulation of DNA-templated transcription; IDA:UniProtKB.
DR   GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   CDD; cd00086; homeodomain; 1.
DR   Gene3D; 1.10.10.60; Homeodomain-like; 1.
DR   InterPro; IPR009057; Homeobox-like_sf.
DR   InterPro; IPR017970; Homeobox_CS.
DR   InterPro; IPR001356; Homeobox_dom.
DR   InterPro; IPR003654; OAR_dom.
DR   PANTHER; PTHR46639; DIENCEPHALON/MESENCEPHALON HOMEOBOX PROTEIN 1; 1.
DR   PANTHER; PTHR46639:SF2; DIENCEPHALON/MESENCEPHALON HOMEOBOX PROTEIN 1; 1.
DR   Pfam; PF00046; Homeodomain; 1.
DR   Pfam; PF03826; OAR; 1.
DR   SMART; SM00389; HOX; 1.
DR   SUPFAM; SSF46689; Homeodomain-like; 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
//
DBGET integrated database retrieval system