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Diencephalon/mesencephalon homeobox protein 1 (Diencephalon/mesencephalon-expressed brain homeobox gene 1 protein) (Orthodenticle homolog 3) (Paired-like homeobox protein DMBX1) (Paired-type homeobox Atx)

 DMBX1_MOUSE             Reviewed;         381 AA.
Q91ZK4; B1ASG1; Q8CH43; Q8K4U6; Q8VHG8; Q91ZK3;
28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
01-DEC-2001, sequence version 1.
05-DEC-2018, entry version 138.
RecName: Full=Diencephalon/mesencephalon homeobox protein 1;
AltName: Full=Diencephalon/mesencephalon-expressed brain homeobox gene 1 protein;
AltName: Full=Orthodenticle homolog 3;
AltName: Full=Paired-like homeobox protein DMBX1;
AltName: Full=Paired-type homeobox Atx;
Name=Dmbx1 {ECO:0000312|MGI:MGI:2153518};
Synonyms=Cdmx {ECO:0000312|EMBL:AAL68836.1},
Mbx {ECO:0000303|PubMed:11914943}, Otx3 {ECO:0000312|MGI:MGI:2153518},
PaxB {ECO:0000312|EMBL:BAC00919.1};
Mus musculus (Mouse).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
Muroidea; Muridae; Murinae; Mus; Mus.
NCBI_TaxID=10090;
[1] {ECO:0000305, ECO:0000312|EMBL:AAN76724.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND TISSUE
SPECIFICITY.
TISSUE=Embryo {ECO:0000269|PubMed:11914943};
PubMed=11914943; DOI=10.1007/s00427-002-0217-4;
Miyamoto T., Kawahara A., Teufel A., Mukhopadhyay M., Zhao Y.,
Dawid I.B., Westphal H.;
"Mbx, a novel mouse homeobox gene.";
Dev. Genes Evol. 212:104-106(2002).
[2] {ECO:0000305, ECO:0000312|EMBL:AAM78514.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
STRAIN=C57BL/6J {ECO:0000312|EMBL:AAM78514.1};
PubMed=12111214; DOI=10.1007/s00427-002-0244-1;
Takahashi T., Holland P.W.H., Cohn M.J., Shimizu K., Kurokawa M.,
Hirai H.;
"An orphan PRD class homeobox gene expressed in mouse brain and limb
development.";
Dev. Genes Evol. 212:293-297(2002).
[3] {ECO:0000305, ECO:0000312|EMBL:BAC00919.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), FUNCTION, AND DEVELOPMENTAL
STAGE.
PubMed=12055180; DOI=10.1074/jbc.C100767200;
Zhang Y., Miki T., Iwanaga T., Koseki Y., Okuno M., Sunaga Y.,
Ozaki N., Yano H., Koseki H., Seino S.;
"Identification, tissue expression, and functional characterization of
Otx3, a novel member of the Otx family.";
J. Biol. Chem. 277:28065-28069(2002).
[4] {ECO:0000305, ECO:0000312|EMBL:AAL30508.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
DEVELOPMENTAL STAGE.
STRAIN=SWR/J {ECO:0000312|EMBL:AAL30508.1};
PubMed=11744391; DOI=10.1016/S0925-4773(01)00587-1;
Ohtoshi A., Nishijima I., Justice M.J., Behringer R.R.;
"Dmbx1, a novel evolutionarily conserved paired-like homeobox gene
expressed in the brain of mouse embryos.";
Mech. Dev. 110:241-244(2002).
[5] {ECO:0000305, ECO:0000312|EMBL:AAL68836.1}
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND DEVELOPMENTAL STAGE.
STRAIN=CD-1 {ECO:0000312|EMBL:AAL68836.1};
PubMed=12175515; DOI=10.1016/S0925-4773(02)00078-3;
Broccoli V., Colombo E., Cossu G.;
"Dmbx1 is a paired-box containing gene specifically expressed in the
caudal most brain structures.";
Mech. Dev. 114:219-223(2002).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=C57BL/6J;
PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S.,
She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
Lindblad-Toh K., Eichler E.E., Ponting C.P.;
"Lineage-specific biology revealed by a finished genome assembly of
the mouse.";
PLoS Biol. 7:E1000112-E1000112(2009).
[7] {ECO:0000305, ECO:0000312|EMBL:AAH50912.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
STRAIN=C57BL/6J {ECO:0000312|EMBL:AAH50912.1};
TISSUE=Brain {ECO:0000312|EMBL:AAH50912.1};
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8] {ECO:0000305, ECO:0000312|EMBL:AAL66343.1}
NUCLEOTIDE SEQUENCE [MRNA] OF 1-282 (ISOFORM 1), AND TISSUE
SPECIFICITY.
TISSUE=Embryo {ECO:0000269|PubMed:12175514};
PubMed=12175514; DOI=10.1016/S0925-4773(02)00067-9;
Gogoi R.N., Schubert F.R., Martinez-Barbera J.-P., Acampora D.,
Simeone A., Lumsden A.;
"The paired-type homeobox gene Dmbx1 marks the midbrain and
pretectum.";
Mech. Dev. 114:213-217(2002).
[9] {ECO:0000305}
FUNCTION.
PubMed=15314164; DOI=10.1128/MCB.24.17.7548-7558.2004;
Ohtoshi A., Behringer R.R.;
"Neonatal lethality, dwarfism, and abnormal brain development in Dmbx1
mutant mice.";
Mol. Cell. Biol. 24:7548-7558(2004).
[10] {ECO:0000305}
FUNCTION, INTERACTION WITH OTX2, AND DOMAIN.
PubMed=15890343; DOI=10.1016/j.febslet.2005.04.042;
Kimura K., Miki T., Shibasaki T., Zhang Y., Ogawa M., Saisho H.,
Okuno M., Iwanaga T., Seino S.;
"Functional analysis of transcriptional repressor Otx3/Dmbx1.";
FEBS Lett. 579:2926-2932(2005).
-!- FUNCTION: Functions as a transcriptional repressor. May repress
OTX2-mediated transactivation by forming a heterodimer with OTX2
on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain
development, neonatal survival, postnatal growth, and nursing
ability. {ECO:0000269|PubMed:11914943,
ECO:0000269|PubMed:12055180, ECO:0000269|PubMed:15314164,
ECO:0000269|PubMed:15890343}.
-!- SUBUNIT: Homodimer or heterodimer. Forms heterodimers with OTX2.
{ECO:0000269|PubMed:15890343}.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35137,
ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-
ProRule:PRU00138}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1 {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:11914943,
ECO:0000269|PubMed:12175514, ECO:0000269|PubMed:12175515};
IsoId=Q91ZK4-1; Sequence=Displayed;
Name=2 {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:12055180,
ECO:0000269|PubMed:12111214};
IsoId=Q91ZK4-2; Sequence=VSP_052252;
-!- TISSUE SPECIFICITY: Expressed in adult brain, stomach, and testis.
Expressed in the developing diencephalon, midbrain and hindbrain.
During limb development, expressed in a temporal pattern with
expression being first restricted to the forelimbs and then
subsequently to the hindlimbs. {ECO:0000269|PubMed:11744391,
ECO:0000269|PubMed:11914943, ECO:0000269|PubMed:12111214,
ECO:0000269|PubMed:12175514}.
-!- DEVELOPMENTAL STAGE: Detected in embryo from E10.5 to 13.5 dpc.
Strongly expressed from 9.5 to 11.5 dpc in the diencephalon,
mesencephalon, metencephalon, myeloencephalon, and the developing
eye. {ECO:0000269|PubMed:11744391, ECO:0000269|PubMed:12055180,
ECO:0000269|PubMed:12175515}.
-!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
-!- SEQUENCE CAUTION:
Sequence=BAC00919.1; Type=Erroneous initiation; Evidence={ECO:0000305};
-----------------------------------------------------------------------
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-----------------------------------------------------------------------
EMBL; AF448118; AAN76724.1; -; mRNA.
EMBL; AF499446; AAM78514.1; -; mRNA.
EMBL; AB037698; BAC00919.1; ALT_INIT; mRNA.
EMBL; AF421857; AAL30508.1; -; mRNA.
EMBL; AF421858; AAL30509.1; -; mRNA.
EMBL; AF463513; AAL68836.1; -; mRNA.
EMBL; AL627105; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC050912; AAH50912.1; -; mRNA.
EMBL; AF461039; AAL66343.1; -; mRNA.
CCDS; CCDS18500.1; -. [Q91ZK4-2]
RefSeq; NP_001020738.1; NM_001025567.1. [Q91ZK4-2]
RefSeq; NP_570935.3; NM_130865.3. [Q91ZK4-1]
RefSeq; XP_017175447.1; XM_017319958.1. [Q91ZK4-1]
RefSeq; XP_017175448.1; XM_017319959.1. [Q91ZK4-1]
UniGene; Mm.213206; -.
UniGene; Mm.413175; -.
ProteinModelPortal; Q91ZK4; -.
SMR; Q91ZK4; -.
BioGrid; 228255; 1.
CORUM; Q91ZK4; -.
MINT; Q91ZK4; -.
STRING; 10090.ENSMUSP00000120320; -.
iPTMnet; Q91ZK4; -.
PhosphoSitePlus; Q91ZK4; -.
PaxDb; Q91ZK4; -.
PRIDE; Q91ZK4; -.
Ensembl; ENSMUST00000064806; ENSMUSP00000134457; ENSMUSG00000028707. [Q91ZK4-2]
Ensembl; ENSMUST00000084338; ENSMUSP00000081366; ENSMUSG00000028707. [Q91ZK4-1]
Ensembl; ENSMUST00000124071; ENSMUSP00000120320; ENSMUSG00000028707. [Q91ZK4-2]
GeneID; 140477; -.
KEGG; mmu:140477; -.
UCSC; uc008ufp.1; mouse. [Q91ZK4-2]
UCSC; uc008ufr.1; mouse. [Q91ZK4-1]
CTD; 127343; -.
MGI; MGI:2153518; Dmbx1.
eggNOG; KOG0490; Eukaryota.
eggNOG; ENOG410YIJ3; LUCA.
GeneTree; ENSGT00940000155505; -.
HOGENOM; HOG000261650; -.
HOVERGEN; HBG061416; -.
InParanoid; Q91ZK4; -.
OMA; QAQQVWN; -.
OrthoDB; EOG091G0EWK; -.
PhylomeDB; Q91ZK4; -.
TreeFam; TF351609; -.
PRO; PR:Q91ZK4; -.
Proteomes; UP000000589; Chromosome 4.
Bgee; ENSMUSG00000028707; Expressed in 71 organ(s), highest expression level in thymus.
CleanEx; MM_DMBX1; -.
Genevisible; Q91ZK4; MM.
GO; GO:0005634; C:nucleus; IC:UniProtKB.
GO; GO:0005667; C:transcription factor complex; IDA:MGI.
GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:NTNU_SB.
GO; GO:0046982; F:protein heterodimerization activity; IPI:MGI.
GO; GO:0042803; F:protein homodimerization activity; IPI:MGI.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:UniProtKB.
GO; GO:0008343; P:adult feeding behavior; IMP:MGI.
GO; GO:0008344; P:adult locomotory behavior; IMP:MGI.
GO; GO:0007420; P:brain development; IEP:UniProtKB.
GO; GO:0007417; P:central nervous system development; IEP:UniProtKB.
GO; GO:0048589; P:developmental growth; IEP:UniProtKB.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
CDD; cd00086; homeodomain; 1.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR017970; Homeobox_CS.
InterPro; IPR001356; Homeobox_dom.
InterPro; IPR003654; OAR_dom.
Pfam; PF00046; Homeodomain; 1.
Pfam; PF03826; OAR; 1.
SMART; SM00389; HOX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00027; HOMEOBOX_1; 1.
PROSITE; PS50071; HOMEOBOX_2; 1.
PROSITE; PS50803; OAR; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Developmental protein;
DNA-binding; Homeobox; Nucleus; Reference proteome; Repressor;
Transcription; Transcription regulation.
CHAIN 1 381 Diencephalon/mesencephalon homeobox
protein 1.
/FTId=PRO_0000262955.
DNA_BIND 71 130 Homeobox. {ECO:0000255|PROSITE-
ProRule:PRU00108}.
REGION 1 156 Interaction with OTX2 and is required for
repressor activity.
{ECO:0000269|PubMed:15890343}.
MOTIF 358 371 OAR. {ECO:0000255|PROSITE-
ProRule:PRU00138}.
VAR_SEQ 52 56 Missing (in isoform 2).
{ECO:0000303|PubMed:11744391,
ECO:0000303|PubMed:12055180,
ECO:0000303|PubMed:12111214,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_052252.
CONFLICT 206 206 E -> G (in Ref. 1; AAN76724).
{ECO:0000305}.
CONFLICT 279 279 M -> V (in Ref. 8; AAL66343).
{ECO:0000305}.
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


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