DMBX1_HUMAN
ID DMBX1_HUMAN Reviewed; 382 AA.
AC Q8NFW5; A6NNN2; Q8NFW6; Q8NHD9;
DT 28-NOV-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Diencephalon/mesencephalon homeobox protein 1;
DE AltName: Full=Orthodenticle homolog 3;
DE AltName: Full=Paired-like homeobox protein DMBX1;
GN Name=DMBX1 {ECO:0000312|HGNC:HGNC:19026};
GN Synonyms=MBX {ECO:0000303|PubMed:12142024}, OTX3,
GN PAXB {ECO:0000312|EMBL:BAC00920.1};
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] {ECO:0000305, ECO:0000312|EMBL:AAM90590.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Fetus {ECO:0000269|PubMed:12142024};
RX PubMed=12142024; DOI=10.1006/dbio.2002.0709;
RA Kawahara A., Chien C.-B., Dawid I.B.;
RT "The homeobox gene mbx is involved in eye and tectum development.";
RL Dev. Biol. 248:107-117(2002).
RN [2] {ECO:0000305, ECO:0000312|EMBL:BAC00920.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Fetal brain {ECO:0000269|PubMed:12055180};
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 [3] {ECO:0000312|EMBL:AL137797}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
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 [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP VARIANT TRP-123.
RX PubMed=30237576; DOI=10.1038/s41436-018-0138-x;
RA Maddirevula S., Alzahrani F., Al-Owain M., Al Muhaizea M.A., Kayyali H.R.,
RA AlHashem A., Rahbeeni Z., Al-Otaibi M., Alzaidan H.I., Balobaid A.,
RA El Khashab H.Y., Bubshait D.K., Faden M., Yamani S.A., Dabbagh O.,
RA Al-Mureikhi M., Jasser A.A., Alsaif H.S., Alluhaydan I., Seidahmed M.Z.,
RA Alabbasi B.H., Almogarri I., Kurdi W., Akleh H., Qari A., Al Tala S.M.,
RA Alhomaidi S., Kentab A.Y., Salih M.A., Chedrawi A., Alameer S., Tabarki B.,
RA Shamseldin H.E., Patel N., Ibrahim N., Abdulwahab F., Samira M., Goljan E.,
RA Abouelhoda M., Meyer B.F., Hashem M., Shaheen R., AlShahwan S.,
RA Alfadhel M., Ben-Omran T., Al-Qattan M.M., Monies D., Alkuraya F.S.;
RT "Autozygome and high throughput confirmation of disease genes candidacy.";
RL Genet. Med. 21:736-742(2019).
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 (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Homodimer or heterodimer. Forms heterodimers with OTX2 (By
CC similarity). {ECO:0000250|UniProtKB:Q91ZK4}.
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:12142024}; Synonyms=MBX-L
CC {ECO:0000312|EMBL:AAM90590.1};
CC IsoId=Q8NFW5-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:12055180, ECO:0000269|PubMed:12142024};
CC Synonyms=MBX-S {ECO:0000312|EMBL:AAM90589.1};
CC IsoId=Q8NFW5-2; Sequence=VSP_052251;
CC -!- SIMILARITY: Belongs to the paired homeobox family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC00920.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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; AF398527; AAM90589.1; -; mRNA.
DR EMBL; AF398528; AAM90590.1; -; mRNA.
DR EMBL; AB037699; BAC00920.1; ALT_INIT; mRNA.
DR EMBL; AL137797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06907.1; -; Genomic_DNA.
DR CCDS; CCDS536.1; -. [Q8NFW5-2]
DR RefSeq; NP_671725.1; NM_147192.2. [Q8NFW5-1]
DR RefSeq; NP_757379.1; NM_172225.1. [Q8NFW5-2]
DR RefSeq; XP_011538970.1; XM_011540668.2. [Q8NFW5-2]
DR RefSeq; XP_016855778.1; XM_017000289.1. [Q8NFW5-2]
DR AlphaFoldDB; Q8NFW5; -.
DR SMR; Q8NFW5; -.
DR BioGRID; 126053; 2.
DR IntAct; Q8NFW5; 1.
DR STRING; 9606.ENSP00000353132; -.
DR iPTMnet; Q8NFW5; -.
DR PhosphoSitePlus; Q8NFW5; -.
DR BioMuta; DMBX1; -.
DR DMDM; 74762571; -.
DR MassIVE; Q8NFW5; -.
DR PaxDb; Q8NFW5; -.
DR PeptideAtlas; Q8NFW5; -.
DR PRIDE; Q8NFW5; -.
DR ProteomicsDB; 73373; -. [Q8NFW5-1]
DR ProteomicsDB; 73374; -. [Q8NFW5-2]
DR Antibodypedia; 32805; 84 antibodies from 17 providers.
DR DNASU; 127343; -.
DR Ensembl; ENST00000360032.4; ENSP00000353132.3; ENSG00000197587.11. [Q8NFW5-2]
DR Ensembl; ENST00000371956.8; ENSP00000361024.4; ENSG00000197587.11. [Q8NFW5-1]
DR GeneID; 127343; -.
DR KEGG; hsa:127343; -.
DR MANE-Select; ENST00000360032.4; ENSP00000353132.3; NM_172225.2; NP_757379.1. [Q8NFW5-2]
DR UCSC; uc001cpw.4; human. [Q8NFW5-1]
DR CTD; 127343; -.
DR DisGeNET; 127343; -.
DR GeneCards; DMBX1; -.
DR HGNC; HGNC:19026; DMBX1.
DR HPA; ENSG00000197587; Tissue enriched (brain).
DR MIM; 607410; gene.
DR neXtProt; NX_Q8NFW5; -.
DR OpenTargets; ENSG00000197587; -.
DR PharmGKB; PA38780; -.
DR VEuPathDB; HostDB:ENSG00000197587; -.
DR eggNOG; KOG0490; Eukaryota.
DR GeneTree; ENSGT00940000155505; -.
DR HOGENOM; CLU_060969_0_0_1; -.
DR InParanoid; Q8NFW5; -.
DR OMA; NSLNAMY; -.
DR OrthoDB; 1270742at2759; -.
DR PhylomeDB; Q8NFW5; -.
DR TreeFam; TF351609; -.
DR PathwayCommons; Q8NFW5; -.
DR SignaLink; Q8NFW5; -.
DR BioGRID-ORCS; 127343; 13 hits in 1097 CRISPR screens.
DR GenomeRNAi; 127343; -.
DR Pharos; Q8NFW5; Tbio.
DR PRO; PR:Q8NFW5; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8NFW5; protein.
DR Bgee; ENSG00000197587; Expressed in pituitary gland and 27 other tissues.
DR Genevisible; Q8NFW5; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0005667; C:transcription regulator complex; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0043565; F:sequence-specific DNA binding; ISS:UniProtKB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0008343; P:adult feeding behavior; IEA:Ensembl.
DR GO; GO:0008344; P:adult locomotory behavior; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; ISS:UniProtKB.
DR GO; GO:0007417; P:central nervous system development; ISS:UniProtKB.
DR GO; GO:0048589; P:developmental growth; ISS:UniProtKB.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; ISS: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..382
FT /note="Diencephalon/mesencephalon homeobox protein 1"
FT /id="PRO_0000262954"
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:0000250|UniProtKB:Q91ZK4"
FT REGION 128..252
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 359..372
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..216
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:12055180,
FT ECO:0000303|PubMed:12142024"
FT /id="VSP_052251"
FT VARIANT 123
FT /note="R -> W (found in a patient with global delayed
FT development; unknown pathological significance;
FT dbSNP:rs730882203)"
FT /evidence="ECO:0000269|PubMed:30237576"
FT /id="VAR_082142"
FT VARIANT 205
FT /note="A -> P (in dbSNP:rs34614765)"
FT /id="VAR_049578"
FT CONFLICT 227
FT /note="R -> K (in Ref. 2; BAC00920)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 382 AA; 41198 MW; 8119E5351E026BFE CRC64;
MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL AGCTFQDIIL
EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM RERLAMCTNL PEARVQVWFK
NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE GKAEAPTPDT QLDTEQPPRL PGSDPPAELH
LSLSEQSASE SAPEDQPDRE EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI
TPVAPGGGLL GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA
AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA SATLNSKTTS
IENLRLRAKQ HAASLGLDTL PN
