SPOUT1
entrez
51490
canonical
uniprot
Q5T280
canonical
ensembl
ENSG00000198917
resolver
ensp
ENSP00000354812
resolver
enst
ENST00000361256
resolver
genesymbol
SPOUT1
resolver
genesymbol_syn
C9orf114
resolver
hgnc
HGNC:26933
resolver
uniprot
Q0D2P6
resolver
uniprot
Q6P469
resolver
uniprot
Q6PGP9
resolver
uniprot
Q6PIJ1
resolver
uniprot
Q6PJV9
resolver
uniprot_entry
SPOUT_HUMAN
resolver
uniprot_sec
Q0D2P6
resolver
uniprot_sec
Q6P469
resolver
uniprot_sec
Q6PGP9
resolver
uniprot_sec
Q6PIJ1
resolver
uniprot_sec
Q6PJV9
resolver
amino_acid_sequence
MAERGRKRPCGPGEHGQRIEWRKWKQQKKEEKKKWKDLKLMKKLERQRAQEEQAKRLEEEEAAAEKEDRGRPYTLSVALPGSILDNAQSPELRTYLAGQIARACAIFCVDEIVVFDEEGQDAKTVEGEFTGVGKKGQACVQLARILQYLECPQYLRKAFFPKHQDLQFAGLLNPLDSPHHMRQDEESEFREGIVVDRPTRPGHGSFVNCGMKKEVKIDKNLEPGLRVTVRLNQQQHPDCKTYHGKVVSSQDPRTKAGLYWGYTVRLASCLSAVFAEAPFQDGYDLTIGTSERGSDVASAQLPNFRHALVVFGGLQGLEAGADADPNLEVAEPSVLFDLYVNTCPGQGSRTIRTEEAILISLAALQPGLIQAGARHT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities (NEDGSB) [MIM:621154]: An autosomal recessive disorder characterized by varying degrees of developmental delay apparent in early infancy, poor overall growth, short stature, microcephaly, seizures, motor delay often with hypotonia, and mild to severe intellectual disability with speech and language delay. {ECO:0000269|PubMed:39962046}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.-
uniprot
proteins
function
FUNCTION: S-adenosyl-L-methionine-dependent RNA methyltransferase (PubMed:39671501, PubMed:39962046). Specifically methylates the N3 position of a uridine in 28S rRNA (PubMed:39671501). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase, ensuring proper spindle organization (PubMed:20813266, PubMed:25657325, PubMed:39962046). Also involved in chromosome alignment (PubMed:20813266). May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis (PubMed:25657325). Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level (PubMed:28431233). {ECO:0000269|PubMed:20813266, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:39671501, ECO:0000269|PubMed:39962046}.
uniprot
proteins
mass_dalton
42009
uniprot
proteins
mutagenesis
MUTAGEN 356; /note="A->N: Decreased methyltransferase activity with GAPDH mRNA hairpin as substrate. 3-fold decreased affinity for GAPDH mRNA hairpin."; /evidence="ECO:0000269|PubMed:39962046
uniprot
proteins
protein_family
Class IV-like SAM-binding methyltransferase superfamily
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20813266
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21750715
uniprot
proteins
pubmed
25657325
uniprot
proteins
pubmed
28431233
uniprot
proteins
pubmed
39671501
uniprot
proteins
pubmed
39962046
uniprot
proteins
sequence_length
376
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25657325}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:20813266, ECO:0000269|PubMed:25657325}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25657325}. Note=Associated with the outer kinetochore. {ECO:0000269|PubMed:20813266}.
uniprot
proteins