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Aliases for DMBX1 Gene

Aliases for DMBX1 Gene

  • Diencephalon/Mesencephalon Homeobox 1 2 3 5
  • Paired-Like Homeobox Protein DMBX1 3 4
  • Orthodenticle Homolog 3 3 4
  • OTX3 3 4
  • PAXB 3 4
  • MBX 3 4
  • Diencephalon/Mesencephalon Homeobox Protein 1 3
  • Orthodenticle Homolog 3 (Drosophila) 2
  • Homeoprotein MBX 3

External Ids for DMBX1 Gene

Previous HGNC Symbols for DMBX1 Gene

  • OTX3

Previous GeneCards Identifiers for DMBX1 Gene

  • GC01P046343
  • GC01P046684
  • GC01P046974
  • GC01P045088

Summaries for DMBX1 Gene

Entrez Gene Summary for DMBX1 Gene

  • This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for DMBX1 Gene

DMBX1 (Diencephalon/Mesencephalon Homeobox 1) is a Protein Coding gene. Diseases associated with DMBX1 include Childhood Type Dermatomyositis and Adult Dermatomyositis. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is PITX1.

UniProtKB/Swiss-Prot for DMBX1 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMBX1 Gene

Genomics for DMBX1 Gene

Regulatory Elements for DMBX1 Gene

Enhancers for DMBX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F046519 1.6 FANTOM5 Ensembl ENCODE 18.3 +31.8 31758 3.6 HDGF PKNOX1 ARNT CREB3L1 SIN3A CBX5 FOS KLF13 CEBPZ REST EFCAB14-AS1 DMBX1 IPP KNCN EFCAB14 TEX38 ATPAF1 NSUN4 MKNK1 CYP4Z1
GH01F046490 0.7 FANTOM5 14.1 +0.3 319 0.2 ATF1 PKNOX1 SUZ12 ZNF792 FEZF1 E2F1 ZBTB48 POLR2A ZSCAN29 ZNF600 DMBX1 GC01P046525
GH01F046523 0.2 ENCODE 12.6 +34.1 34058 0.5 CTCF JUND ZNF600 RELA DMBX1 KNCN EFCAB14 FAAH GC01P046525
GH01F046527 0.5 ENCODE 12.6 +37.3 37317 0.2 PKNOX1 SAP130 TEAD4 THRB RARA TEAD3 NR2F6 NFIA SP5 TEAD1 DMBX1 KNCN EFCAB14 MKNK1 GC01P046525 LOC105378696
GH01F046489 0.2 ENCODE 0.8 0.0 -44 0.1 TBP ATF1 PKNOX1 SUZ12 DDX20 E2F1 POLR2A NFYB FOS ZNF600 DMBX1 LINC01398
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DMBX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DMBX1 Gene

Chromosome:
1
Start:
46,489,837 bp from pter
End:
46,514,226 bp from pter
Size:
24,390 bases
Orientation:
Plus strand

Genomic View for DMBX1 Gene

Genes around DMBX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMBX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMBX1 Gene

Proteins for DMBX1 Gene

  • Protein details for DMBX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFW5-DMBX1_HUMAN
    Recommended name:
    Diencephalon/mesencephalon homeobox protein 1
    Protein Accession:
    Q8NFW5
    Secondary Accessions:
    • A6NNN2
    • Q8NFW6
    • Q8NHD9

    Protein attributes for DMBX1 Gene

    Size:
    382 amino acids
    Molecular mass:
    41198 Da
    Quaternary structure:
    • Homodimer or heterodimer. Forms heterodimers with OTX2 (By similarity).
    SequenceCaution:
    • Sequence=BAC00920.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DMBX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DMBX1 Gene

Post-translational modifications for DMBX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMBX1 Gene

Antibody Products

  • Abcam antibodies for DMBX1
  • Santa Cruz Biotechnology (SCBT) Antibodies for DMBX1

No data available for DME Specific Peptides for DMBX1 Gene

Domains & Families for DMBX1 Gene

Gene Families for DMBX1 Gene

Protein Domains for DMBX1 Gene

Suggested Antigen Peptide Sequences for DMBX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFW5

UniProtKB/Swiss-Prot:

DMBX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with DMBX1: view

Function for DMBX1 Gene

Molecular function for DMBX1 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 transcription factor activity, sequence-specific DNA binding ISS --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with DMBX1: view
genes like me logo Genes that share phenotypes with DMBX1: view

Animal Models for DMBX1 Gene

MGI Knock Outs for DMBX1:

Animal Model Products

miRNA for DMBX1 Gene

miRTarBase miRNAs that target DMBX1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DMBX1 Gene

Localization for DMBX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DMBX1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMBX1 Gene COMPARTMENTS Subcellular localization image for DMBX1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with DMBX1: view

Pathways & Interactions for DMBX1 Gene

SuperPathways for DMBX1 Gene

SuperPathway Contained pathways
1 Neural Crest Differentiation
genes like me logo Genes that share pathways with DMBX1: view

Pathways by source for DMBX1 Gene

1 BioSystems pathway for DMBX1 Gene

Gene Ontology (GO) - Biological Process for DMBX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007417 central nervous system development ISS --
genes like me logo Genes that share ontologies with DMBX1: view

No data available for SIGNOR curated interactions for DMBX1 Gene

Transcripts for DMBX1 Gene

mRNA/cDNA for DMBX1 Gene

(4) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMBX1 Gene

No ASD Table

Relevant External Links for DMBX1 Gene

GeneLoc Exon Structure for
DMBX1
ECgene alternative splicing isoforms for
DMBX1

Expression for DMBX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMBX1 Gene

mRNA differential expression in normal tissues according to GTEx for DMBX1 Gene

This gene is overexpressed in Testis (x17.4), Pituitary (x8.2), Brain - Substantia nigra (x6.0), and Bladder (x4.5).

NURSA nuclear receptor signaling pathways regulating expression of DMBX1 Gene:

DMBX1

SOURCE GeneReport for Unigene cluster for DMBX1 Gene:

Hs.375623
genes like me logo Genes that share expression patterns with DMBX1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DMBX1 Gene

Orthologs for DMBX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DMBX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMBX1 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMBX1 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmbx1 34 16 35
  • 87.54 (n)
rat
(Rattus norvegicus)
Mammalia Dmbx1 34
  • 86.76 (n)
dog
(Canis familiaris)
Mammalia DMBX1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMBX1 35
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMBX1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves DMBX1 34 35
  • 75.63 (n)
lizard
(Anolis carolinensis)
Reptilia DMBX1 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493907 34
  • 70.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32187 34
zebrafish
(Danio rerio)
Actinopterygii dmbx1a 35
  • 70 (a)
OneToMany
dmbx1b 34 35
  • 68.44 (n)
dmbx1 34
worm
(Caenorhabditis elegans)
Secernentea ceh-36 35
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO2 37
Species where no ortholog for DMBX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DMBX1 Gene

ENSEMBL:
Gene Tree for DMBX1 (if available)
TreeFam:
Gene Tree for DMBX1 (if available)

Paralogs for DMBX1 Gene

Paralogs for DMBX1 Gene

(2) SIMAP similar genes for DMBX1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DMBX1: view

Variants for DMBX1 Gene

Sequence variations from dbSNP and Humsavar for DMBX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs730882203 Likely pathogenic 46,510,953(+) ACCGC(C/T)GGGCC reference, missense
rs10890402 -- 46,493,956(+) AGGTC(A/G)TCCCT intron-variant
rs111296612 -- 46,496,193(+) TGGAG(A/G)AGCCC intron-variant
rs111313147 -- 46,493,673(+) CATGA(A/G)CCCCG intron-variant
rs111415610 -- 46,500,524(+) AAAGA(C/T)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMBX1 Gene

Variant ID Type Subtype PubMed ID
esv2761743 CNV gain 21179565
nsv1009193 CNV gain 25217958

Variation tolerance for DMBX1 Gene

Residual Variation Intolerance Score: 77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.98; 60.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMBX1 Gene

Human Gene Mutation Database (HGMD)
DMBX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMBX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMBX1 Gene

Disorders for DMBX1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DMBX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
childhood type dermatomyositis
  • childhood dermatomyositis
adult dermatomyositis
  • adult onset dermatomyositis
- elite association - COSMIC cancer census association via MalaCards
Search DMBX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DMBX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMBX1
genes like me logo Genes that share disorders with DMBX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMBX1 Gene

Publications for DMBX1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  2. Identification, tissue expression, and functional characterization of Otx3, a novel member of the Otx family. (PMID: 12055180) Zhang Y. … Seino S. (J. Biol. Chem. 2002) 3 4 64
  3. The homeobox gene mbx is involved in eye and tectum development. (PMID: 12142024) Kawahara A. … Dawid I.B. (Dev. Biol. 2002) 3 4 64
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3 64
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3 64

Products for DMBX1 Gene

Sources for DMBX1 Gene

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