ALX1
entrez
8092
canonical
uniprot
Q15699
canonical
ensembl
ENSG00000180318
resolver
ensp
ENSP00000315417
resolver
enst
ENST00000316824
resolver
genesymbol
ALX1
resolver
genesymbol
HEL23
resolver
genesymbol_syn
CART1
resolver
hgnc
HGNC:1494
resolver
uniprot
Q546C8
resolver
uniprot
Q96FH4
resolver
uniprot
V9HWA7
resolver
uniprot_entry
ALX1_HUMAN
resolver
uniprot_entry
V9HWA7_HUMAN
resolver
uniprot_sec
Q546C8
resolver
uniprot_sec
Q96FH4
resolver
amino_acid_sequence
MEFLSEKFALKSPPSKNSDFYMGAGGPLEHVMETLDNESFYSKASAGKCVQAFGPLPRAEHHVRLERTSPCQDSSVNYGITKVEGQPLHTELNRAMDNCNSLRMSPVKGMQEKGELDELGDKCDSNVSSSKKRRHRTTFTSLQLEELEKVFQKTHYPDVYVREQLALRTELTEARVQVWFQNRRAKWRKRERYGQIQQAKSHFAATYDISVLPRTDSYPQIQNNLWAGNASGGSVVTSCMLPRDTSSCMTPYSHSPRTDSSYTGFSNHQNQFSHVPLNNFFTDSLLTGATNGHAFETKPEFERRSSSIAVLRMKAKEHTANISWAM
uniprot
proteins
disease_involvement
DISEASE: Frontonasal dysplasia 3 (FND3) [MIM:613456]: The term frontonasal dysplasia describes an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline. {ECO:0000269|PubMed:20451171}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Sequence-specific DNA-binding transcription factor that binds palindromic sequences within promoters and may activate or repress the transcription of a subset of genes (PubMed:8756334, PubMed:9753625). Most probably regulates the expression of genes involved in the development of mesenchyme-derived craniofacial structures. Early on in development, it plays a role in forebrain mesenchyme survival (PubMed:20451171). May also induce epithelial to mesenchymal transition (EMT) through the expression of SNAI1 (PubMed:23288509). {ECO:0000269|PubMed:20451171, ECO:0000269|PubMed:23288509, ECO:0000269|PubMed:8756334, ECO:0000269|PubMed:9753625}.
uniprot
proteins
mass_dalton
36961
uniprot
proteins
post_translational_modification
PTM: Acetylated at Lys-131 by EP300; increases interaction with EP300 and stimulates ALX1 transcriptional activity. {ECO:0000250|UniProtKB:Q8C8B0}.
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20451171
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23288509
uniprot
proteins
pubmed
8756334
uniprot
proteins
pubmed
9753625
uniprot
proteins
sequence_length
326
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8756334, ECO:0000269|PubMed:9753625}.
uniprot
proteins