1. Gene
  2. DLX1 - distal-less homeobox 1 Gene

DLX1 - distal-less homeobox 1 Gene

Homo sapiens
Gene ID: 1745 | Gene type: protein coding

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

DLX1 Protein Structure

Homeobox

Homeobox: Homeobox domain (129 - 185)

  • 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

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