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

Gene ID: 1745, updated on 11-Jun-2021

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
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
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Genomic context

See DLX1 in Genome Data Viewer
Location:
2q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (172085507..172089674)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172950235..172954402)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene histone acetyltransferase 1 Neighboring gene PDGFA associated protein 1 pseudogene Neighboring gene methionyl aminopeptidase type 1D, mitochondrial Neighboring gene VISTA enhancer hs553 Neighboring gene VISTA enhancer hs422 Neighboring gene distal-less homeobox 2

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 embryo development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in embryonic skeletal system development IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in odontogenesis of dentin-containing tooth 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
PubMed 
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 nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

  1. NG_009218.1 RefSeqGene

    Range
    5028..9195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001038493.2NP_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
  2. NM_178120.5NP_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
    P56177
    UniProtKB/TrEMBL
    X5D2F9
    Related
    ENSP00000354478.4, ENST00000361725.5
    Conserved Domains (1) summary
    pfam00046
    Location:131185
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    172085507..172089674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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