DLX5

Protein identityUniProt · HPA

UniProt accession

P56178

Gene

DLX5

Ensembl

ENSG00000105880

Chromosome

7

Canonical length

289 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>P56178|DLX5
     1  MTGVFDRRVP SIRSGDFQAP FQTSAAMHHP SQESPTLPES SATDSDYYSP TGGAPHGYCS
    61  PTSASYGKAL NPYQYQYHGV NGSAGSYPAK AYADYSYASS YHQYGGAYNR VPSATNQPEK
   121  EVTEPEVRMV NGKPKKVRKP RTIYSSFQLA ALQRRFQKTQ YLALPERAEL AASLGLTQTQ
   181  VKIWFQNKRS KIKKIMKNGE MPPEHSPSSS DPMACNSPQS PAVWEPQGSS RSLSHHPHAH
   241  PPTSNQSPAS SYLENSASWY TSAASSINSH LPPPGSLQHP LALASGTLY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DLX5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

26 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DLX5.

Disease | AllUniProt

Conditions DLX5 is implicated in, by any mechanism.

• Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) MIM:220600

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 95 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Split hand-foot malformation 1
• Split hand-foot malformation 1 with sensorineural hearing loss
• DLX5-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.68

gnomAD pLI

0.22

gnomAD missense Z

0.04

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• anatomical structure formation involved in morphogenesis
• BMP signaling pathway
• cell differentiation
• cell population proliferation
• embryonic limb morphogenesis
• embryonic skeletal system development
• endochondral ossification
• epithelial cell differentiation
• face morphogenesis
• inner ear morphogenesis
• nervous system development
• olfactory bulb interneuron differentiation
• olfactory pit development
• osteoblast differentiation
• positive regulation of canonical Wnt signaling pathway
• positive regulation of DNA-templated transcription
• positive regulation of epithelial cell proliferation
• positive regulation of gene expression
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• roof of mouth development
• skeletal system development
• interneuron axon guidance

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• HMG box domain binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Helix-turn-helix motif
• Homeodomain
• Homedomain-like superfamily
• Homeobox, conserved site
• Homeodomain, metazoa
• Distal-less-like homeobox protein, N-terminal domain
• Distal-less homeobox transcription factors
• Homeodomain
• Homeobox protein distal-less-like N terminal

KeywordsUniProt

• Activator
• Deafness
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Osteogenesis
• Phosphoprotein
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of DLX5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• XRCC6
• MAGED1