UniProtKB - Q8NFW5 (DMBX1_HUMAN)
Protein
Diencephalon/mesencephalon homeobox protein 1
Gene
DMBX1
Organism
Homo sapiens (Human)
Status
Functioni
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 (By similarity).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 71 – 130 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- identical protein binding Source: Ensembl
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: Ensembl
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- adult feeding behavior Source: Ensembl
- adult locomotory behavior Source: Ensembl
- brain development Source: UniProtKB
- central nervous system development Source: UniProtKB
- developmental growth Source: UniProtKB
- negative regulation of transcription, DNA-templated Source: UniProtKB
Keywordsi
Molecular function | Developmental protein, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8NFW5 |
Names & Taxonomyi
Protein namesi | Recommended name: Diencephalon/mesencephalon homeobox protein 1Alternative name(s): Orthodenticle homolog 3 Paired-like homeobox protein DMBX1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000197587.10 |
HGNCi | HGNC:19026, DMBX1 |
MIMi | 607410, gene |
neXtProti | NX_Q8NFW5 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotationBy similarity
Nucleus
- nuclear chromatin Source: NTNU_SB
Other locations
- transcription regulator complex Source: Ensembl
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 127343 |
OpenTargetsi | ENSG00000197587 |
PharmGKBi | PA38780 |
Miscellaneous databases
Pharosi | Q8NFW5, Tbio |
Polymorphism and mutation databases
BioMutai | DMBX1 |
DMDMi | 74762571 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000262954 | 1 – 382 | Diencephalon/mesencephalon homeobox protein 1Add BLAST | 382 |
Proteomic databases
MassIVEi | Q8NFW5 |
PaxDbi | Q8NFW5 |
PeptideAtlasi | Q8NFW5 |
PRIDEi | Q8NFW5 |
ProteomicsDBi | 73373 [Q8NFW5-1] 73374 [Q8NFW5-2] |
PTM databases
iPTMneti | Q8NFW5 |
PhosphoSitePlusi | Q8NFW5 |
Expressioni
Gene expression databases
Bgeei | ENSG00000197587, Expressed in adenohypophysis and 34 other tissues |
Genevisiblei | Q8NFW5, HS |
Organism-specific databases
HPAi | ENSG00000197587, Tissue enhanced (pituitary gland, testis) |
Interactioni
Subunit structurei
Homodimer or heterodimer. Forms heterodimers with OTX2 (By similarity).
By similarityGO - Molecular functioni
- identical protein binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 126053, 1 interactor |
IntActi | Q8NFW5, 1 interactor |
STRINGi | 9606.ENSP00000353132 |
Miscellaneous databases
RNActi | Q8NFW5, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 156 | Interaction with OTX2 and is required for repressor activityBy similarityAdd BLAST | 156 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 359 – 372 | OARPROSITE-ProRule annotationAdd BLAST | 14 |
Sequence similaritiesi
Belongs to the paired homeobox family.Curated
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000155505 |
HOGENOMi | CLU_060969_0_0_1 |
InParanoidi | Q8NFW5 |
OMAi | SHSEGKM |
OrthoDBi | 1270742at2759 |
PhylomeDBi | Q8NFW5 |
TreeFami | TF351609 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 11 Publication (identifier: Q8NFW5-1) [UniParc]FASTAAdd to basket
Also known as: MBX-LImported
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MQHYGVNGYS LHAMNSLSAM YNLHQQAAQQ AQHAPDYRPS VHALTLAERL
60 70 80 90 100
AGCTFQDIIL EARYGSQHRK QRRSRTAFTA QQLEALEKTF QKTHYPDVVM
110 120 130 140 150
RERLAMCTNL PEARVQVWFK NRRAKFRKKQ RSLQKEQLQK QKEAEGSHGE
160 170 180 190 200
GKAEAPTPDT QLDTEQPPRL PGSDPPAELH LSLSEQSASE SAPEDQPDRE
210 220 230 240 250
EDPRAGAEDP KAEKSPGADS KGLGCKRGSP KADSPGSLTI TPVAPGGGLL
260 270 280 290 300
GPSHSYSSSP LSLFRLQEQF RQHMAATNNL VHYSSFEVGG PAPAAAAAAA
310 320 330 340 350
AVPYLGVNMA PLGSLHCQSY YQSLSAAAAA HQGVWGSPLL PAPPAGLAPA
360 370 380
SATLNSKTTS IENLRLRAKQ HAASLGLDTL PN
Sequence cautioni
The sequence BAC00920 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 227 | R → K in BAC00920 (PubMed:12055180).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082142 | 123 | R → W Found in a patient with global delayed development; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs730882203Ensembl. | 1 | |
Natural variantiVAR_049578 | 205 | A → P. Corresponds to variant dbSNP:rs34614765Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_052251 | 52 – 56 | Missing in isoform 2. 2 Publications | 5 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF398527 mRNA Translation: AAM90589.1 AF398528 mRNA Translation: AAM90590.1 AB037699 mRNA Translation: BAC00920.1 Different initiation. AL137797 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX06907.1 |
CCDSi | CCDS536.1 [Q8NFW5-2] |
RefSeqi | NP_671725.1, NM_147192.2 [Q8NFW5-1] NP_757379.1, NM_172225.1 [Q8NFW5-2] XP_011538970.1, XM_011540668.2 [Q8NFW5-2] XP_016855778.1, XM_017000289.1 [Q8NFW5-2] |
Genome annotation databases
Ensembli | ENST00000360032; ENSP00000353132; ENSG00000197587 [Q8NFW5-2] ENST00000371956; ENSP00000361024; ENSG00000197587 [Q8NFW5-1] |
GeneIDi | 127343 |
KEGGi | hsa:127343 |
UCSCi | uc001cpw.4, human [Q8NFW5-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF398527 mRNA Translation: AAM90589.1 AF398528 mRNA Translation: AAM90590.1 AB037699 mRNA Translation: BAC00920.1 Different initiation. AL137797 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX06907.1 |
CCDSi | CCDS536.1 [Q8NFW5-2] |
RefSeqi | NP_671725.1, NM_147192.2 [Q8NFW5-1] NP_757379.1, NM_172225.1 [Q8NFW5-2] XP_011538970.1, XM_011540668.2 [Q8NFW5-2] XP_016855778.1, XM_017000289.1 [Q8NFW5-2] |
3D structure databases
SMRi | Q8NFW5 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126053, 1 interactor |
IntActi | Q8NFW5, 1 interactor |
STRINGi | 9606.ENSP00000353132 |
PTM databases
iPTMneti | Q8NFW5 |
PhosphoSitePlusi | Q8NFW5 |
Polymorphism and mutation databases
BioMutai | DMBX1 |
DMDMi | 74762571 |
Proteomic databases
MassIVEi | Q8NFW5 |
PaxDbi | Q8NFW5 |
PeptideAtlasi | Q8NFW5 |
PRIDEi | Q8NFW5 |
ProteomicsDBi | 73373 [Q8NFW5-1] 73374 [Q8NFW5-2] |
Protocols and materials databases
Antibodypediai | 32805, 84 antibodies |
Genome annotation databases
Ensembli | ENST00000360032; ENSP00000353132; ENSG00000197587 [Q8NFW5-2] ENST00000371956; ENSP00000361024; ENSG00000197587 [Q8NFW5-1] |
GeneIDi | 127343 |
KEGGi | hsa:127343 |
UCSCi | uc001cpw.4, human [Q8NFW5-1] |
Organism-specific databases
CTDi | 127343 |
DisGeNETi | 127343 |
EuPathDBi | HostDB:ENSG00000197587.10 |
GeneCardsi | DMBX1 |
HGNCi | HGNC:19026, DMBX1 |
HPAi | ENSG00000197587, Tissue enhanced (pituitary gland, testis) |
MIMi | 607410, gene |
neXtProti | NX_Q8NFW5 |
OpenTargetsi | ENSG00000197587 |
PharmGKBi | PA38780 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0490, Eukaryota |
GeneTreei | ENSGT00940000155505 |
HOGENOMi | CLU_060969_0_0_1 |
InParanoidi | Q8NFW5 |
OMAi | SHSEGKM |
OrthoDBi | 1270742at2759 |
PhylomeDBi | Q8NFW5 |
TreeFami | TF351609 |
Enzyme and pathway databases
PathwayCommonsi | Q8NFW5 |
Miscellaneous databases
BioGRID-ORCSi | 127343, 4 hits in 865 CRISPR screens |
GenomeRNAii | 127343 |
Pharosi | Q8NFW5, Tbio |
PROi | PR:Q8NFW5 |
RNActi | Q8NFW5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000197587, Expressed in adenohypophysis and 34 other tissues |
Genevisiblei | Q8NFW5, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR003654, OAR_dom |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF03826, OAR, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS50803, OAR, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DMBX1_HUMAN | |
Accessioni | Q8NFW5Primary (citable) accession number: Q8NFW5 Secondary accession number(s): A6NNN2, Q8NFW6, Q8NHD9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2006 |
Last sequence update: | October 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations