DLX1 - distal-less homeobox 1 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1745

About DLX1

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:172,085,507-172,089,674 (from NCBI)

This gene has 7 transcripts (splice variants), 207 orthologues and 9 paralogues. Biased expression in brain (RPKM 2.1), adrenal (RPKM 1.3) and 5 other tissues.

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]

DLX1 Products (2)

mRNA	Protein	Name
NM_001038493.2	NP_001033582.1	homeobox protein DLX-1 isoform 2
NM_178120.5	NP_835221.2	homeobox protein DLX-1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	14671321	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to BMP stimulus	IMP IMP: Inferred from mutant phenotype	14671321	GOA
involved in cellular response to transforming growth factor beta stimulus	IMP IMP: Inferred from mutant phenotype	14671321	GOA
involved in negative regulation of BMP signaling pathway	IMP IMP: Inferred from mutant phenotype	14671321	GOA
involved in negative regulation of cellular response to transforming growth factor beta stimulus	IMP IMP: Inferred from mutant phenotype	14671321	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14671321	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	14671321	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	14671321	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLX1 Protein Structure

Homeobox

0
100
200
255 a.a.

Protein Preferred Names	Protein Names
homeobox protein DLX-1	distal-less homeo box 1

Related Diseases

Diseases	Alias
Split-Hand/Foot Malformation 5	Split Hand-Foot Malformation 5 SHFM5
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03812	DLX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20715	Dlx1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27226	Dlx1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DLX1	VGNC	VGNC:28098
Mus musculus	DLX1	MGD	MGI:94901
Rattus norvegicus	DLX1	RGD	RGD:1309593
Felis catus	DLX1	VGNC	VGNC:107522
Macaca mulatta	DLX1	VGNC	VGNC:104521
Canis familiaris	DLX1	VGNC	VGNC:39989
Others	DLX1	NCBI