DLX1 distal-less homeobox 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DLX1provided by HGNC
Official Full Name: distal-less homeobox 1provided by HGNC
Primary source: HGNC:HGNC:2914
See related: Ensembl:ENSG00000144355 MIM:600029; AllianceGenome:HGNC:2914
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Biased expression in brain (RPKM 2.1), adrenal (RPKM 1.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (172085507..172089674)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (172570383..172575917)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (172950235..172954402)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DLX1 acts as a novel prognostic biomarker involved in immune cell infiltration and tumor progression in lung adenocarcinoma.
Title: DLX1 acts as a novel prognostic biomarker involved in immune cell infiltration and tumor progression in lung adenocarcinoma.
MiR-129-5p/DLX1 signalling axis mediates functions of prostate cancer during malignant progression.
Title: MiR-129-5p/DLX1 signalling axis mediates functions of prostate cancer during malignant progression.
Transcriptional network involving ERG and AR orchestrates Distal-less homeobox-1 mediated prostate cancer progression.
Title: Transcriptional network involving ERG and AR orchestrates Distal-less homeobox-1 mediated prostate cancer progression.
Prospective assessment of two-gene urinary test with multiparametric magnetic resonance imaging of the prostate for men undergoing primary prostate biopsy.
Title: Prospective assessment of two-gene urinary test with multiparametric magnetic resonance imaging of the prostate for men undergoing primary prostate biopsy.
TUG1 participated in the development of OSCC as a competing endogenous RNA to competitively bind to miR-524-5p and thus mediate DLX1 expression.
Title: Long noncoding RNA TUG1 regulates the development of oral squamous cell carcinoma through sponging miR-524-5p to mediate DLX1 expression as a competitive endogenous RNA.
Urinary DLX1 mRNA levels were quantified and RNA results were then combined with other risk factors in a clinical model optimized to detect International Society of Urological Pathology Grade Group 2 or greater prostate cancer in men with prostate specific antigen less than 10 ng/ml.
Title: Multicenter Optimization and Validation of a 2-Gene mRNA Urine Test for Detection of Clinically Significant Prostate Cancer before Initial Prostate Biopsy.
observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT.
Title: Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1.
DLX1 interacted with beta-catenin and enhanced the interaction between beta-catenin and TCF4 T-cell factor
Title: DLX1, a binding protein of beta-catenin, promoted the growth and migration of prostate cancer cells.
Our results provided evidence that polymorphisms in TIMP1, DLX1 and DLX2 genes may be associated with DF phenotypes.
Title: Polymorphisms in genes involved in enamel development are associated with dental fluorosis.
DLX1 mRNA levels were shown to be good predictors for the detection of High-grade Prostate Cancer.
Title: Detection of High-grade Prostate Cancer Using a Urinary Molecular Biomarker-Based Risk Score.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-30) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2012-03-30) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DLX1_1597 (e-PCR)
- UniSTS:277167

DLX1_v560 (e-PCR)
- UniSTS:277167

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to BMP stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cerebral cortex GABAergic interneuron fate commitment	IEA Inferred from Electronic Annotation more info
involved_in embryonic skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in forebrain neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cellular response to transforming growth factor beta stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of photoreceptor cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuroblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of amacrine cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in subpallium development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: homeobox protein DLX-1

Names: distal-less homeo box 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009218.1 RefSeqGene

Range

5028..9195

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001038493.2 → NP_001033582.1 homeobox protein DLX-1 isoform 2

See identical proteins and their annotated locations for NP_001033582.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon in the coding region that results in a frameshift and premature stop codon, compared to variant 1. It encodes isoform 2, which has a shorter, distinct C-terminus, compared to isoform 1.

Source sequence(s)

AY257976, BC053351

Consensus CDS

CCDS33328.1

UniProtKB/Swiss-Prot

P56177

Related

ENSP00000341786.6, ENST00000341900.6
NM_178120.5 → NP_835221.2 homeobox protein DLX-1 isoform 1

See identical proteins and their annotated locations for NP_835221.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AY257976, BC036189, BC053351

Consensus CDS

CCDS2247.2

UniProtKB/Swiss-Prot

D3DPD7, P56177, Q53ZU4, Q7Z724, Q8IYB2

UniProtKB/TrEMBL

Q53SU3, X5D2F9

Related

ENSP00000354478.4, ENST00000361725.5

Conserved Domains (1) summary

pfam00046
Location:131 → 185

Homeobox; Homeobox domain