Q9BWG6
uniprot
Q9BWG6
canonical
amino_acid_sequence
MSFKREGDDWSQLNVLKKRRVGDLLASYIPEDEALMLRDGRFACAICPHRPVLDTLAMLTAHRAGKKHLSSLQLFYGKKQPGKERKQNPKHQNELRREETKAEAPLLTQTRLITQSALHRAPHYNSCCRRKYRPEAPGPSVSLSPMPPSEVKLQSGKISREPEPAAGPQAEESATVSAPAPMSPTRRRALDHYLTLRSSGWIPDGRGRWVKDENVEFDSDEEEPPDLPLD
uniprot
proteins
disease_involvement
DISEASE: Orofaciodigital syndrome 19 (OFD19) [MIM:620107]: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD19 is an autosomal recessive form characterized by tongue nodules, dental and digital anomalies, narrow high-arched or cleft palate, and retrognathia. Some patients have notching of the upper or lower lip. Note=The disease is caused by variants affecting the gene represented in this entry. The genetic variation producing the missense variant p.P51Q, associated with OFD19, has been shown to create a new acceptor splice site, leading to the deletion of 31 nucleotides, resulting in a frameshift and an early termination codon (p.F42YfsTer8). The variant mRNA is predicted to undergo nonsense-mediated mRNA decay. {ECO:0000269|PubMed:36084634}.
uniprot
proteins
function
FUNCTION: As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (PubMed:36084634). Plays a role in the regulation of primary cilia length and Hedgehog signaling (PubMed:36084634). {ECO:0000269|PubMed:36084634}.
uniprot
proteins
mass_dalton
25949
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17656373
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
33509932
uniprot
proteins
pubmed
36084634
uniprot
proteins
sequence_length
230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:17656373}. Nucleus speckle {ECO:0000269|PubMed:17656373}. Note=Colocalizes with LUC7L2 and SNRNP70 in nuclear speckles. {ECO:0000250|UniProtKB:Q8K136}.
uniprot
proteins