Human Gene DMBX1 (ENST00000360032.4_8) from GENCODE V47lift37
  Description: diencephalon/mesencephalon homeobox 1, transcript variant 1 (from RefSeq NM_172225.2)
Gencode Transcript: ENST00000360032.4_8
Gencode Gene: ENSG00000197587.12_11
Transcript (Including UTRs)
   Position: hg19 chr1:46,955,508-46,981,888 Size: 26,381 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:46,972,683-46,978,166 Size: 5,484 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:46,955,508-46,981,888)mRNA (may differ from genome)Protein (377 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DMBX1_HUMAN
DESCRIPTION: RecName: Full=Diencephalon/mesencephalon homeobox protein 1; AltName: Full=Orthodenticle homolog 3; AltName: Full=Paired-like homeobox protein DMBX1;
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 (By similarity).
SUBUNIT: Homodimer or heterodimer. Forms heterodimers with OTX2 (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Belongs to the paired homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=BAC00920.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DMBX1
Diseases sorted by gene-association score: childhood type dermatomyositis (16)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.22 RPKM in Testis
Total median expression: 1.98 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -78.10194-0.403 Picture PostScript Text
3' UTR -1394.203722-0.375 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR003654 - OAR_dom

Pfam Domains:
PF00046 - Homeodomain
PF03826 - OAR motif

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q8NFW5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0008343 adult feeding behavior
GO:0008344 adult locomotory behavior
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048589 developmental growth

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AB037699 - Homo sapiens hPaxB mRNA, partial cds.
AF398527 - Homo sapiens homeoprotein MBX-S mRNA, complete cds.
AF398528 - Homo sapiens homeoprotein MBX-L mRNA, complete cds.
AB527840 - Synthetic construct DNA, clone: pF1KB7943, Homo sapiens DMBX1 gene for diencephalon/mesencephalon homeobox 1, without stop codon, in Flexi system.
BC156064 - Synthetic construct Homo sapiens clone IMAGE:100062355, MGC:190480 diencephalon/mesencephalon homeobox 1 (DMBX1) mRNA, encodes complete protein.
BC156881 - Synthetic construct Homo sapiens clone IMAGE:100062764, MGC:190606 diencephalon/mesencephalon homeobox 1 (DMBX1) mRNA, encodes complete protein.
AY726596 - Homo sapiens clone MO-25 mRNA sequence.
JD468057 - Sequence 449081 from Patent EP1572962.
JD163244 - Sequence 144268 from Patent EP1572962.
JD151668 - Sequence 132692 from Patent EP1572962.
JD138773 - Sequence 119797 from Patent EP1572962.
JD097615 - Sequence 78639 from Patent EP1572962.
JD355564 - Sequence 336588 from Patent EP1572962.
JD457949 - Sequence 438973 from Patent EP1572962.
JD046655 - Sequence 27679 from Patent EP1572962.
JD254020 - Sequence 235044 from Patent EP1572962.
JD341659 - Sequence 322683 from Patent EP1572962.
JD418621 - Sequence 399645 from Patent EP1572962.
JD521563 - Sequence 502587 from Patent EP1572962.
JD389388 - Sequence 370412 from Patent EP1572962.
JD152098 - Sequence 133122 from Patent EP1572962.
JD281166 - Sequence 262190 from Patent EP1572962.
JD403014 - Sequence 384038 from Patent EP1572962.
JD147241 - Sequence 128265 from Patent EP1572962.
JD555165 - Sequence 536189 from Patent EP1572962.
JD402765 - Sequence 383789 from Patent EP1572962.
JD260951 - Sequence 241975 from Patent EP1572962.
JD462565 - Sequence 443589 from Patent EP1572962.
JD506958 - Sequence 487982 from Patent EP1572962.
JD184990 - Sequence 166014 from Patent EP1572962.
JD531028 - Sequence 512052 from Patent EP1572962.
JD259869 - Sequence 240893 from Patent EP1572962.
JD475345 - Sequence 456369 from Patent EP1572962.
JD370938 - Sequence 351962 from Patent EP1572962.
JD188269 - Sequence 169293 from Patent EP1572962.
JD098908 - Sequence 79932 from Patent EP1572962.
JD274185 - Sequence 255209 from Patent EP1572962.
JD068751 - Sequence 49775 from Patent EP1572962.
JD182022 - Sequence 163046 from Patent EP1572962.
JD067582 - Sequence 48606 from Patent EP1572962.
JD549694 - Sequence 530718 from Patent EP1572962.
JD414221 - Sequence 395245 from Patent EP1572962.
JD184767 - Sequence 165791 from Patent EP1572962.
JD360971 - Sequence 341995 from Patent EP1572962.
JD511553 - Sequence 492577 from Patent EP1572962.
JD263454 - Sequence 244478 from Patent EP1572962.
JD307712 - Sequence 288736 from Patent EP1572962.
JD371147 - Sequence 352171 from Patent EP1572962.
JD155586 - Sequence 136610 from Patent EP1572962.
JD450518 - Sequence 431542 from Patent EP1572962.
JD363244 - Sequence 344268 from Patent EP1572962.
JD048287 - Sequence 29311 from Patent EP1572962.
JD353688 - Sequence 334712 from Patent EP1572962.
JD059737 - Sequence 40761 from Patent EP1572962.
JD155903 - Sequence 136927 from Patent EP1572962.
JD534840 - Sequence 515864 from Patent EP1572962.
JD366551 - Sequence 347575 from Patent EP1572962.
JD280446 - Sequence 261470 from Patent EP1572962.
JD240834 - Sequence 221858 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NNN2, DMBX1 , DMBX1_HUMAN, ENST00000360032.1, ENST00000360032.2, ENST00000360032.3, MBX , NM_172225, OTX3, PAXB , Q8NFW5, Q8NFW6, Q8NHD9, uc318biy.1, uc318biy.2
UCSC ID: ENST00000360032.4_8
RefSeq Accession: NM_172225.2
Protein: Q8NFW5 (aka DMBX1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.