Protein: Homeobox protein ARX (Aristaless-related homeobox) (Q96QS3)
Organism: Homo sapiens (Human)
Function: Transcription factor. Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes, such as histone demethylase KDM5C. Positively modulates transcription of KDM5C. Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory elements. Required for normal brain development. Plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain (By similarity). May also be involved in axonal guidance in the floor plate (By similarity).
Subcellular location: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138}.
Sequence: MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC
InterPro domains: - IPR001356: Homeodomain (domain) [326-390]
- IPR009057: Homedomain-like superfamily (homologous_superfamily) [324-393]
- IPR003654: OAR domain (domain) [526-544]
- IPR017970: Homeobox, conserved site (conserved_site) [361-384]
- IPR050649: Paired Homeobox Transcription Factors (family) [162-548]
Interaction partners: - Protocadherin-19
- Cyclin-dependent kinase-like 5
- Syntaxin-binding protein 1
- Mitochondrial glutamate carrier 1
- Sodium channel protein type 1 subunit alpha
- Bifunctional polynucleotide phosphatase/kinase
- Importin-13
- Spectrin alpha chain, non-erythrocytic 1
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0097159 (organic cyclic compound binding), GO:1901363 (heterocyclic compound binding), GO:0003676 (nucleic acid binding), GO:0003677 (DNA binding), GO:0003690 (double-stranded DNA binding), GO:0043565 (sequence-specific DNA binding), GO:1990837 (sequence-specific double-stranded DNA binding)
Biological Process (BP): GO:0008150 (biological process), GO:0032502 (developmental process), GO:0009987 (cellular process), GO:0032501 (multicellular organismal process), GO:0048869 (cellular developmental process), GO:0048856 (anatomical structure development), GO:0007275 (multicellular organism development), GO:0021536 (diencephalon development), GO:0009888 (tissue development), GO:0021537 (telencephalon development), GO:0060322 (head development), GO:0048468 (cell development), GO:0030154 (cell differentiation), GO:0030900 (forebrain development), GO:0021794 (thalamus development), GO:0048731 (system development), GO:0048513 (animal organ development), GO:0007420 (brain development), GO:0022008 (neurogenesis), GO:0021872 (forebrain generation of neurons), GO:0007417 (central nervous system development), GO:0007399 (nervous system development), GO:0030182 (neuron differentiation), GO:0048666 (neuron development), GO:0048699 (generation of neurons), GO:0021953 (central nervous system neuron differentiation), GO:0021879 (forebrain neuron differentiation), GO:0021954 (central nervous system neuron development), GO:0021884 (forebrain neuron development)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0031974 (membrane-enclosed lumen), GO:0005654 (nucleoplasm), GO:0043229 (intracellular organelle), GO:0043233 (organelle lumen), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0070013 (intracellular organelle lumen), GO:0031981 (nuclear lumen), GO:0005634 (nucleus)