This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation a... See more...

Aliases for DLX1 Gene

Aliases for DLX1 Gene

  • Distal-Less Homeobox 1 2 3 5
  • Distal-Less Homeo Box 1 2 3
  • Homeobox Protein DLX-1 3 4

External Ids for DLX1 Gene

Previous GeneCards Identifiers for DLX1 Gene

  • GC02P171002
  • GC02P171610
  • GC02P172913
  • GC02P173152
  • GC02P172775
  • GC02P172657
  • GC02P164830
  • GC02P172949

Summaries for DLX1 Gene

Entrez Gene Summary for DLX1 Gene

  • This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for DLX1 Gene

DLX1 (Distal-Less Homeobox 1) is a Protein Coding gene. Diseases associated with DLX1 include Dental Fluorosis and Split-Hand/Foot Malformation 5. Among its related pathways are DNA Damage/Telomere Stress Induced Senescence and Regulation of nuclear SMAD2/3 signaling. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and chromatin binding. An important paralog of this gene is DLX6.

UniProtKB/Swiss-Prot Summary for DLX1 Gene

  • Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity).

Additional gene information for DLX1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DLX1 Gene

Genomics for DLX1 Gene

GeneHancer (GH) Regulatory Elements for DLX1 Gene

Promoters and enhancers for DLX1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J172083 Promoter/Enhancer 2.4 VISTA EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.8 794 5 NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 ZFX ZIC2 POLR2A ZBTB10 DLX1 KU179668
GH02J172092 Promoter/Enhancer 3 VISTA UCNEbase EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.9 +13.6 13619 10.9 FOXK2 HNRNPK EP300 CTCF ZSCAN5C SIN3A NRF1 USF1 POLR2G SP1 DLX2 DAP3P2 ENSG00000233762 HAT1 DCAF17 ITGA6 ITGA6-AS1 CYBRD1 DLX1 DYNC1I2
GH02J172090 Promoter/Enhancer 1.7 VISTA UCNEbase Ensembl ENCODE 0.4 +5.7 5722 3.7 EZH2 FOXA2 ZNF316 MAFF POLR2G MAFK ZBTB48 CBX8 SUZ12 BCL6 KU179668 DLX1
GH02J172071 Enhancer 1.5 VISTA UCNEbase Ensembl CraniofacialAtlas 0.4 -11.9 -11852 2.2 EP300 NCOR1 FOXA2 ZBTB17 POLR2H FOXP1 FOXA1 BCL6 HHEX PRDM6 DLX2 DLX2-DT METAP1D SLC25A12 HAT1 DLX1
GH02J172082 Promoter/Enhancer 0.9 Ensembl dbSUPER 0.7 -2.3 -2339 0.8 ZIC2 EZH2 CBX8 CBX2 ZNF3 GLIS1 RNF2 ZBTB33 TCF7L2 SUZ12 DLX2 DLX1 METAP1D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DLX1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DLX1

Top Transcription factor binding sites by QIAGEN in the DLX1 gene promoter:
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • IRF-2
  • NF-kappaB1

Genomic Locations for DLX1 Gene

Genomic Locations for DLX1 Gene
chr2:172,084,740-172,089,677
(GRCh38/hg38)
Size:
4,938 bases
Orientation:
Plus strand
chr2:172,949,468-172,954,405
(GRCh37/hg19)
Size:
4,938 bases
Orientation:
Plus strand

Genomic View for DLX1 Gene

Genes around DLX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DLX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DLX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DLX1 Gene

Proteins for DLX1 Gene

  • Protein details for DLX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56177-DLX1_HUMAN
    Recommended name:
    Homeobox protein DLX-1
    Protein Accession:
    P56177
    Secondary Accessions:
    • D3DPD7
    • Q53ZU4
    • Q7Z724
    • Q8IYB2

    Protein attributes for DLX1 Gene

    Size:
    255 amino acids
    Molecular mass:
    27320 Da
    Quaternary structure:
    • Interacts with SMAD4 (via homeobox DNA-binding domain) (PubMed:14671321). Interacts (via homeobox DNA-binding domain) with POU4F2; this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina and enhances retinal ganglion cell (RGC) differentiation (By similarity).

    Alternative splice isoforms for DLX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DLX1 Gene

Post-translational modifications for DLX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DLX1 Gene

No data available for DME Specific Peptides for DLX1 Gene

Domains & Families for DLX1 Gene

Gene Families for DLX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for DLX1 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DLX1 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein DLX-1 (DLX1_HUMAN)
  • cDNA FLJ76107, highly similar to Homo sapiens distal-less homeo box 1 (DLX1), mRNA (Q53SU3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56177

UniProtKB/Swiss-Prot:

DLX1_HUMAN :
  • The homeobox DNA-binding domain is necessary for its nuclear localization, transcriptional and erythroid differentiation activities (PubMed:14671321).
  • Belongs to the distal-less homeobox family.
Domain:
  • The homeobox DNA-binding domain is necessary for its nuclear localization, transcriptional and erythroid differentiation activities (PubMed:14671321).
Family:
  • Belongs to the distal-less homeobox family.
genes like me logo Genes that share domains with DLX1: view

Function for DLX1 Gene

Molecular function for DLX1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation (PubMed:14671321). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity).
GENATLAS Biochemistry:
Drosophila distal less homolog Dlx1,homeo domain encoding gene,expressed in the forebrain,facial and limb primordia

Phenotypes From GWAS Catalog for DLX1 Gene

Gene Ontology (GO) - Molecular Function for DLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with DLX1: view
genes like me logo Genes that share phenotypes with DLX1: view

Animal Models for DLX1 Gene

MGI Knock Outs for DLX1:

Animal Model Products

CRISPR Products

miRNA for DLX1 Gene

miRTarBase miRNAs that target DLX1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX1

Clone Products

  • Addgene plasmids for DLX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DLX1 Gene

Localization for DLX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DLX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DLX1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
plasma membrane 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IDA 14671321
genes like me logo Genes that share ontologies with DLX1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DLX1 Gene

Pathways & Interactions for DLX1 Gene

PathCards logo

SuperPathways for DLX1 Gene

SuperPathway Contained pathways
1 DNA Damage/Telomere Stress Induced Senescence
.38
2 Regulation of nuclear SMAD2/3 signaling
genes like me logo Genes that share pathways with DLX1: view

Pathways by source for DLX1 Gene

1 BioSystems pathway for DLX1 Gene
1 GeneGo (Thomson Reuters) pathway for DLX1 Gene
  • Signal transduction Activin A signaling regulation

Gene Ontology (GO) - Biological Process for DLX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 14671321
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0009790 embryo development IBA 21873635
genes like me logo Genes that share ontologies with DLX1: view

No data available for SIGNOR curated interactions for DLX1 Gene

Drugs & Compounds for DLX1 Gene

No Compound Related Data Available

Transcripts for DLX1 Gene

mRNA/cDNA for DLX1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DLX1

Clone Products

  • Addgene plasmids for DLX1

Alternative Splicing Database (ASD) splice patterns (SP) for DLX1 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d · 5e
SP1: - - - -
SP2: - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for DLX1 Gene

GeneLoc Exon Structure for
DLX1

Expression for DLX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DLX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DLX1 Gene

This gene is overexpressed in Brain - Hypothalamus (x11.0), Brain - Anterior cingulate cortex (BA24) (x7.5), Brain - Frontal Cortex (BA9) (x5.4), Brain - Amygdala (x5.2), Brain - Cortex (x5.2), and Brain - Hippocampus (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DLX1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DLX1

SOURCE GeneReport for Unigene cluster for DLX1 Gene:

Hs.407015

mRNA Expression by UniProt/SwissProt for DLX1 Gene:

P56177-DLX1_HUMAN
Tissue specificity: Expressed in hematopoietic cell lines.

Evidence on tissue expression from TISSUES for DLX1 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with DLX1: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DLX1 Gene

Orthologs for DLX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DLX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DLX1 31 30
  • 99.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DLX1 31 30
  • 95.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DLX1 31 30
  • 94.9 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dlx1 30
  • 92.16 (n)
mouse
(Mus musculus)
Mammalia Dlx1 17 31 30
  • 92.03 (n)
oppossum
(Monodelphis domestica)
Mammalia DLX1 31
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DLX1 31
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves DLX1 31 30
  • 85.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DLX1 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dlx1 30
  • 79.42 (n)
zebrafish
(Danio rerio)
Actinopterygii dlx1a 31 30 30
  • 74.87 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dll 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-43 31
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
ManyToMany
Species where no ortholog for DLX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 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 DLX1 Gene

ENSEMBL:
Gene Tree for DLX1 (if available)
TreeFam:
Gene Tree for DLX1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DLX1: view image

Paralogs for DLX1 Gene

Paralogs for DLX1 Gene

(13) SIMAP similar genes for DLX1 Gene using alignment to 4 proteins:

  • DLX1_HUMAN
  • F8VXJ2_HUMAN
  • J3KP55_HUMAN
  • Q53SU3_HUMAN
genes like me logo Genes that share paralogs with DLX1: view

Variants for DLX1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DLX1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs17853565 - p.Ser136Cys

Additional dbSNP identifiers (rs#s) for DLX1 Gene

Variation tolerance for DLX1 Gene

Residual Variation Intolerance Score: 41.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.09; 2.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DLX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DLX1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DLX1 Gene

Disorders for DLX1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DLX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dental fluorosis
  • intrinsic enamel discolouration of fluorosis
split-hand/foot malformation 5
  • shfm5
witkop syndrome
  • ectodermal dysplasia 3, witkop type; ectd3
autism spectrum disorder
  • asd
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search DLX1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DLX1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DLX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DLX1 Gene

Publications for DLX1 Gene

  1. Cloning and characterization of two members of the vertebrate Dlx gene family. (PMID: 7907794) Simeone A … Huebner K (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 23 54
  2. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41 54
  3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M … van Ree JM (Biological psychiatry 2009) 3 41 54
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41 54
  5. The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. (PMID: 18728693) Liu X … Holden JJ (European journal of human genetics : EJHG 2009) 3 41 54

Products for DLX1 Gene

Sources for DLX1 Gene