DLX5 Gene Summary [Human]
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | DLX5 |
| Official Name | distal-less homeobox 5 [Source:HGNC Symbol;Acc:HGNC:2918] |
| Ensembl ID | ENSG00000105880 |
| Bio databases IDs | |
| Aliases | distal-less homeobox 5 |
| Synonyms | BAC CLONE RG300E22, distal-less homeobox 5, Distal-less-like homeoprotein, RDLX, SHFM1, SHFM1D |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DLX5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- DNA binding domain
- nucleic acid binding
- Homeobox protein distal-less-like N terminal
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Dlx homology domain
- double-stranded DNA binding
- homeodomain
- transcription factor activity
Pathways
Biological processes and signaling networks where the DLX5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypoplasia
- split hand/foot malformation type 1
- Alzheimer disease
- osteosarcoma
- osteosarcomagenesis
- split-hand/foot malformation 1 with sensorineural hearing loss
- exencephaly
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- syndromic microphthalmia 2
role in cell
- proliferation
- differentiation
- development
- guidance
- outgrowth
- endochondral ossification by
- morphogenesis
- abnormal morphology
- production
- developmental process
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human DLX5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell proliferation
- embryo development
- olfactory pit development
- olfactory bulb interneuron differentiation
- palate development
- nervous system development
- positive regulation of canonical Wnt receptor signaling pathway
- anatomical structure formation involved in morphogenesis
- positive regulation of transcription from RNA polymerase II promoter
- face morphogenesis
- regulation of transcription from RNA polymerase II promoter
- epithelial cell differentiation
- embryonic limb morphogenesis
- skeletal system development
- positive regulation of transcription, DNA-dependent
- BMP signaling pathway
- positive regulation of gene expression
- inner ear morphogenesis
- osteoblast differentiation
- cell differentiation
- endochondral ossification
- positive regulation of epithelial cell proliferation
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- chromatin
Molecular Function
What the gene product does at the molecular level
- HMG box domain binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- transcription regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity