ARX
entrez
170302
canonical
uniprot
Q96QS3
canonical
ensembl
ENSG00000004848
resolver
ensp
ENSP00000368332
resolver
enst
ENST00000379044
resolver
genesymbol
ARX
resolver
hgnc
HGNC:18060
resolver
uniprot_entry
ARX_HUMAN
resolver
amino_acid_sequence
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEEEELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPAFGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKEVC
uniprot
proteins
disease_involvement
DISEASE: Lissencephaly, X-linked 2 (LISX2) [MIM:300215]: A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia. {ECO:0000269|PubMed:12379852, ECO:0000269|PubMed:14722918, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806}. Note=The disease is caused by variants affecting the gene represented in this entry. Also called X-linked lissencephaly with abnormal genitalia (XLAG). {ECO:0000303|PubMed:22194193}.; DISEASE: Developmental and epileptic encephalopathy 1 (DEE1) [MIM:308350]: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269|PubMed:11889467, ECO:0000269|PubMed:12376946, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Partington syndrome (PRTS) [MIM:309510]: An X-linked developmental disorder characterized by intellectual disability, episodic dystonic hand movements, lower limb spasticity, and dysarthria. {ECO:0000269|PubMed:11889467}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, X-linked 29 (XLID29) [MIM:300419]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic intellectual disability presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:11971879}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) [MIM:300004]: An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias. {ECO:0000269|PubMed:14722918, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA-binding transcription factor that plays a central role in the differentiation and development of type A pancreatic cells, which are located in the islets of Langerhans and secrete glucagon (By similarity). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes (PubMed:22194193, PubMed:31691806). Also plays a key role in intestinal enteroendocrine cell differentiation by promoting differentiation of intestinal enteroendocrine cell types L, -N, -D, -I and -G (PubMed:37883554). Required for normal brain development: plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain (PubMed:11889467, PubMed:12379852, PubMed:14722918). May also be involved in axonal guidance in the floor plate (By similarity). Promotes expression of transcription of KDM5C (PubMed:31691806). 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 (PubMed:31691806). {ECO:0000250|UniProtKB:O35085, ECO:0000269|PubMed:11889467, ECO:0000269|PubMed:12379852, ECO:0000269|PubMed:14722918, ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806, ECO:0000269|PubMed:37883554}.
uniprot
proteins
mass_dalton
58160
uniprot
proteins
mutagenesis
MUTAGEN 358; /note="R->S: Abolishes sequence-specific DNA-binding; reduces transcriptional repression of LMO1 and SHOX2. Abolishes transcriptional activation of KDM5C."; /evidence="ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806"; MUTAGEN 379; /note="R->L,S: Abolishes sequence-specific DNA-binding; reduces transcriptional repression of LMO1 and SHOX2. Abolishes transcriptional activation of KDM5C."; /evidence="ECO:0000269|PubMed:22194193, ECO:0000269|PubMed:31691806
uniprot
proteins
protein_family
Bicoid subfamily
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11889467
uniprot
proteins
pubmed
11971879
uniprot
proteins
pubmed
12359145
uniprot
proteins
pubmed
12376946
uniprot
proteins
pubmed
12379852
uniprot
proteins
pubmed
14722918
uniprot
proteins
pubmed
22194193
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
31691806
uniprot
proteins
pubmed
35840571
uniprot
proteins
pubmed
37883554
uniprot
proteins
sequence_length
562
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00138, ECO:0000269|PubMed:22194193}. Chromosome {ECO:0000269|PubMed:22194193}.
uniprot
proteins