CWF19L1
entrez
55280
canonical
uniprot
Q69YN2
canonical
ensembl
ENSG00000095485
resolver
ensp
ENSP00000326411
resolver
ensp
ENSP00000575442
resolver
ensp
ENSP00000620219
resolver
genesymbol
CWF19L1
resolver
hgnc
HGNC:25613
resolver
uniprot
A0A0S2Z5E9
resolver
uniprot
B4DHX1
resolver
uniprot
D3DR66
resolver
uniprot
Q5W0I3
resolver
uniprot
Q96HC3
resolver
uniprot
Q9H865
resolver
uniprot
Q9NV13
resolver
uniprot_entry
A0A0S2Z5E9_HUMAN
resolver
uniprot_entry
C19L1_HUMAN
resolver
uniprot_sec
B4DHX1
resolver
uniprot_sec
D3DR66
resolver
uniprot_sec
Q5W0I3
resolver
uniprot_sec
Q96HC3
resolver
uniprot_sec
Q9H865
resolver
uniprot_sec
Q9NV13
resolver
amino_acid_sequence
MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNFFGSTQDAEWEEYKTGIKKAPIQTYVLGANNQETVKYFQDADGCELAENITYLGRKGIFTGSSGLQIVYLSGTESLNEPVPGYSFSPKDVSSLRMMLCTTSQFKGVDILLTSPWPKCVGNFGNSSGEVDTKKCGSALVSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQHATRFIALANVGNPEKKKYLYAFSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIGKQILAPVEESACQFFFDLNEKQGRKRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLASPEVEKHLVVNIGTHCYLALAKGGLSDDHVLILPIGHYQSVVELSAEVVEEVEKYKATLRRFFKSRGKWCVVFERNYKSHHLQLQVIPVPISCSTTDDIKDAFITQAQEQQIELLEIPEHSDIKQIAQPGAAYFYVELDTGEKLFHRIKKNFPLQFGREVLASEAILNVPDKSDWRQCQISKEDEETLARRFRKDFEPYDFTLDD
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 17 (SCAR17) [MIM:616127]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability. {ECO:0000269|PubMed:25361784}. Note=The disease is caused by variants affecting the gene represented in this entry. A disease-causing mutation has been reported that affects an intronic splice donor site and causes exon 9 skipping, this leads to an out-of-frame stop codon after 60 aberrant amino acids. Patients carrying this mutation exhibit much lower mRNA and protein levels compared to unaffected controls, probably due to mRNA nonsense-mediated decay (PubMed:25361784). {ECO:0000269|PubMed:25361784}.
uniprot
proteins
function
FUNCTION: Acts as a splicing regulator which modulates global alternative splicing (PubMed:39542248). Regulates expression of immune-related genes through direct regulation of alternative splicing and modulation of upstream transcription factors (PubMed:39542248). Promotes T cell toxicity by enhancing T cell cytokine production (PubMed:39542248). {ECO:0000269|PubMed:39542248}.
uniprot
proteins
mass_dalton
60619
uniprot
proteins
protein_family
CWF19 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25361784
uniprot
proteins
pubmed
39542248
uniprot
proteins
pubmed
41422678
uniprot
proteins
sequence_length
538
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:41422678}. Nucleus, nucleoplasm {ECO:0000269|PubMed:39542248}. Note=Detected in the nucleus where it is predominantly expressed in the nucleoplasm (PubMed:39542248). Not detected in nuclear substructures including Cajal body, nucleus speckle, nucleolus, PML body and paraspeckle (PubMed:39542248). {ECO:0000269|PubMed:39542248}.
uniprot
proteins