DLX3

Protein identityUniProt · HPA

UniProt accession

O60479

Gene

DLX3

Ensembl

ENSG00000064195

Chromosome

17

Canonical length

287 aa

Protein class

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

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

287 residues, UniProt reviewed canonical sequence.

>O60479|DLX3
     1  MSGSFDRKLS SILTDISSSL SCHAGSKDSP TLPESSVTDL GYYSAPQHDY YSGQPYGQTV
    61  NPYTYHHQFN LNGLAGTGAY SPKSEYTYGA SYRQYGAYRE QPLPAQDPVS VKEEPEAEVR
   121  MVNGKPKKVR KPRTIYSSYQ LAALQRRFQK AQYLALPERA ELAAQLGLTQ TQVKIWFQNR
   181  RSKFKKLYKN GEVPLEHSPN NSDSMACNSP PSPALWDTSS HSTPAPARSQ LPPPLPYSAS
   241  PSYLDDPTNS WYHAQNLSGP HLQQQPPQPA TLHHASPGPP PNPGAVY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DLX3 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)

0.62

Highest tissue expression

52 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DLX3.

Disease | AllUniProt

Conditions DLX3 is implicated in, by any mechanism.

• Trichodentoosseous syndrome (TDO) MIM:190320
• Amelogenesis imperfecta 4 (AI4) MIM:104510

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 215 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tricho-dento-osseous syndrome
• Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
• Inborn genetic diseases
• DLX3-related disorder
• Peripheral pulmonary artery stenosis

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)

0.97

gnomAD pLI

0

gnomAD missense Z

0.96

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

• blood vessel development
• BMP signaling pathway
• embryonic skeletal system development
• epithelial cell differentiation
• gene expression
• hair cell differentiation
• hair follicle morphogenesis
• odontoblast differentiation
• odontogenesis of dentin-containing tooth
• placenta development
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• Wnt signaling pathway
• hair follicle cell proliferation

Molecular functions

• chromatin binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• 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
• Amelogenesis imperfecta
• Cytoplasm
• Developmental protein
• DNA-binding
• Homeobox
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of DLX3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• IPO7