NOVA1
entrez
4857
canonical
uniprot
P51513
canonical
ensembl
ENSG00000139910
resolver
ensp
ENSP00000342387
resolver
ensp
ENSP00000438875
resolver
ensp
ENSP00000447391
resolver
genesymbol
NOVA1
resolver
hgnc
HGNC:7886
resolver
uniprot
A8K0S4
resolver
uniprot
A8K4Q7
resolver
uniprot
B7Z770
resolver
uniprot
D3DS81
resolver
uniprot
D3DS82
resolver
uniprot
Q6B004
resolver
uniprot_entry
B7Z770_HUMAN
resolver
uniprot_entry
NOVA1_HUMAN
resolver
uniprot_sec
A8K0S4
resolver
uniprot_sec
A8K4Q7
resolver
uniprot_sec
D3DS81
resolver
uniprot_sec
D3DS82
resolver
uniprot_sec
Q6B004
resolver
amino_acid_sequence
MMAAAPIQQNGTHTGVPIDLDPPDSRKRPLEAPPEAGSTKRTNTGEDGQYFLKVLIPSYAAGSIIGKGGQTIVQLQKETGATIKLSKSKDFYPGTTERVCLIQGTVEALNAVHGFIAEKIREMPQNVAKTEPVSILQPQTTVNPDRIKQTLPSSPTTTKSSPSDPMTTSRANQVKIIVPNSTAGLIIGKGGATVKAVMEQSGAWVQLSQKPDGINLQERVVTVSGEPEQNRKAVELIIQKIQEDPQSGSCLNISYANVTGPVANSNPTGSPYANTAEVLPTAAAAAGLLGHANLAGVAAFPAVLSGFTGNDLVAITSALNTLASYGYNLNTLGLGLSQAAATGALAAAAASANPAAAAANLLATYASEASASGSTAGGTAGTFALGSLAAATAATNGYFGAASPLAASAILGTEKSTDGSKDVVEIAVPENLVGAILGKGGKTLVEYQELTGARIQISKKGEFVPGTRNRKVTITGTPAATQAAQYLITQRITYEQGVRAANPQKVG
uniprot
proteins
disease_involvement
DISEASE: Note=Trigger of a neurological autoimmnue disorder, called paraneoplastic opsoclonus-myoclonus ataxia (POMA), that can cause extreme motor dysfunction. This disorder develops when tumor cells ectopically express NOVA1, that is normally restricted to the nervous system, triggering an anti-tumor immune response that breaches the blood-brain barrier, leading to autoimmune neurologic disease. POMA autoantibodies block NOVAl RNA binding. {ECO:0000305|PubMed:8558240}.
uniprot
proteins
function
FUNCTION: RNA-binding protein which regulates alternative splicing of pre-mRNAs in the brain and spinal cord in a sequence-specific manner (By similarity). Binds to 5'-YCAY-3' repeats, with a minimum of 2 to 3 repeats necessary for high-affinity binding. Mediates both exon inclusion and exclusion, depending upon the position of its binding site within the pre-mRNA (PubMed:10811881). Binding to 5'-YCAY-3' clusters results in a local and asymmetric action to regulate spliceosome assembly. Binding to an exonic 5'-YCAY-3' cluster changes the protein complexes assembled on pre-mRNA, blocking U1 small nuclear ribonucleoprotein (snRNP) binding and inhibiting exon inclusion, whereas binding to an intronic 5'-YCAY-3' repeat enhances spliceosome assembly and favors exon inclusion (By similarity). Regulates the splicing of gamma-aminobutyric acid receptor subunit gamma-2 (GABRG2) and glycine receptor subunit alpha-2 (GLRA2) pre-mRNAs, among others (By similarity). Autoregulates its own splicing. Binds to its own exon 4 and directs its exclusion, thus leading to NOVA1 isoform 3 production (By similarity). May affect the splicing of many genes involved in vocal behavior (By similarity). {ECO:0000250|UniProtKB:Q9JKN6, ECO:0000269|PubMed:10811881}.
uniprot
proteins
mass_dalton
51727
uniprot
proteins
pubmed
10368286
uniprot
proteins
pubmed
10811881
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
39966351
uniprot
proteins
pubmed
8398153
uniprot
proteins
pubmed
8558240
uniprot
proteins
sequence_length
507
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9JKN6}.
uniprot
proteins