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Aliases for DMBX1 Gene

Aliases for DMBX1 Gene

  • Diencephalon/Mesencephalon Homeobox 1 2 3
  • 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 Symbols for DMBX1 Gene

  • OTX3

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. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is PITX3.

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

Genomic Location for DMBX1 Gene

Start:
46,489,870 bp from pter
End:
46,514,226 bp from pter
Size:
24,357 bases
Orientation:
Plus strand

Genomic View for DMBX1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMBX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMBX1 Gene

Regulatory Elements 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

Proteomics data for DMBX1 Gene at MOPED

Post-translational modifications for DMBX1 Gene

No Post-translational modifications

Other Protein References for DMBX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DMBX1 Gene

Domains for DMBX1 Gene

Gene Families for DMBX1 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for DMBX1 Gene

UniProtKB/Swiss-Prot:

DMBX1_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q8NFW5
Family:
  • Belongs to the paired homeobox family.:
    • Q8NFW5
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:0003677 DNA binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
GO:0042803 protein homodimerization activity IEA --
GO:0043565 sequence-specific DNA binding ISS --
GO:0046982 protein heterodimerization 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:

miRNA for DMBX1 Gene

miRTarBase miRNAs that target DMBX1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3

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 for DMBX1 Gene

SuperPathways for DMBX1 Gene

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:0007417 central nervous system development ISS --
GO:0007420 brain development ISS --
GO:0008343 adult feeding behavior IEA --
genes like me logo Genes that share ontologies with DMBX1: view

Transcripts for DMBX1 Gene

mRNA/cDNA for DMBX1 Gene

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

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 for DMBX1 Gene

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

This gene is overexpressed in Testis (17.4), Pituitary (8.2), Brain - Substantia nigra (6.0), and Bladder (4.5).

SOURCE GeneReport for Unigene cluster for DMBX1 Gene Hs.375623

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

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 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMBX1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMBX1 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dmbx1 36
  • 87.54 (n)
  • 93.68 (a)
Dmbx1 16
Dmbx1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DMBX1 37
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DMBX1 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmbx1 36
  • 86.76 (n)
  • 92.27 (a)
chicken
(Gallus gallus)
Aves DMBX1 36
  • 75.63 (n)
  • 80.39 (a)
DMBX1 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DMBX1 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32187 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493907 36
  • 70.62 (n)
  • 78.24 (a)
zebrafish
(Danio rerio)
Actinopterygii dmbx1 36
dmbx1a 37
  • 70 (a)
OneToMany
dmbx1b 36
  • 68.44 (n)
  • 70.87 (a)
dmbx1b 37
  • 70 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-36 37
  • 26 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PHO2 39
Species with no ortholog for DMBX1:
  • 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

Selected 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 MAF
rs753209 -- 46,491,588(-) AGGAA(C/T)TTGCA intron-variant
rs942251 -- 46,490,605(-) ATGCC(C/G)GGAGC intron-variant
rs942252 -- 46,490,563(-) GAGGG(C/T)GTGGG intron-variant
rs942253 -- 46,489,685(-) CTCCC(A/G)ACCAA upstream-variant-2KB
rs942254 -- 46,488,591(-) TTGGG(A/G)CCAGA upstream-variant-2KB

Relevant External Links for DMBX1 Gene

HapMap Linkage Disequilibrium report
DMBX1
Human Gene Mutation Database (HGMD)
DMBX1

No data available for Structural Variations from Database of Genomic Variants (DGV) for DMBX1 Gene

Disorders for DMBX1 Gene

(1) University of Copenhagen DISEASES for DMBX1 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  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
  3. The homeobox gene mbx is involved in eye and tectum development. (PMID: 12142024) Kawahara A. … Dawid I.B. (Dev. Biol. 2002) 3 4
  4. Functional analysis of transcriptional repressor Otx3/Dmbx1. (PMID: 15890343) Kimura K. … Seino S. (FEBS Lett. 2005) 3
  5. Mutational analysis of the human MBX gene in four Korean families demonstrating microphthalmia with congenital cataract. (PMID: 17990594) Miyamoto T. … Sengoku K. (Turk. J. Pediatr. 2007) 3

Products for DMBX1 Gene

Sources for DMBX1 Gene

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