CLP1
entrez
10978
canonical
uniprot
Q92989
canonical
ensembl
ENSG00000172409
resolver
ensp
ENSP00000304704
resolver
ensp
ENSP00000434995
resolver
genesymbol
CLP1
resolver
genesymbol_syn
HEAB
resolver
hgnc
HGNC:16999
resolver
uniprot
B2R7J6
resolver
uniprot
B4DTI8
resolver
uniprot_entry
CLP1_HUMAN
resolver
uniprot_sec
B2R7J6
resolver
uniprot_sec
B4DTI8
resolver
amino_acid_sequence
MGEEANDDKKPTTKFELERETELRFEVEASQSVQLELLTGMAEIFGTELTRNKKFTFDAGAKVAVFTWHGCSVQLSGRTEVAYVSKDTPMLLYLNTHTALEQMRRQAEKEEERGPRVMVVGPTDVGKSTVCRLLLNYAVRLGRRPTYVELDVGQGSVSIPGTMGALYIERPADVEEGFSIQAPLVYHFGSTTPGTNIKLYNKITSRLADVFNQRCEVNRRASVSGCVINTCGWVKGSGYQALVHAASAFEVDVVVVLDQERLYNELKRDLPHFVRTVLLPKSGGVVERSKDFRRECRDERIREYFYGFRGCFYPHAFNVKFSDVKIYKVGAPTIPDSCLPLGMSQEDNQLKLVPVTPGRDMVHHLLSVSTAEGTEENLSETSVAGFIVVTSVDLEHQVFTVLSPAPRPLPKNFLLIMDIRFMDLK
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 10 (PCH10) [MIM:615803]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH10 features include cortical dysgenesis marked by a simplified gyral pattern, cortical atrophy, mild or focal cerebellar vermian volume loss, delayed myelination, progressive microcephaly, global growth and developmental delays, severe intellectual disabilities, and seizures refractory to treatment. {ECO:0000269|PubMed:24766809, ECO:0000269|PubMed:24766810}. Note=The disease is caused by variants affecting the gene represented in this entry. Neurodegeneration is due to defects in tRNA splicing (PubMed:24766809, PubMed:24766810). {ECO:0000269|PubMed:24766809, ECO:0000269|PubMed:24766810}.
uniprot
proteins
ec_number
2.7.1.78
uniprot
proteins
function
FUNCTION: Polynucleotide kinase that can phosphorylate the 5'-hydroxyl groups of double-stranded RNA (dsRNA), single-stranded RNA (ssRNA), double-stranded DNA (dsDNA) and double-stranded DNA:RNA hybrids. dsRNA is phosphorylated more efficiently than dsDNA, and the RNA component of a DNA:RNA hybrid is phosphorylated more efficiently than the DNA component. Plays a key role in both tRNA splicing and mRNA 3'-end formation. Component of the tRNA splicing endonuclease complex: phosphorylates the 5'-terminus of the tRNA 3'-exon during tRNA splicing; this phosphorylation event is a prerequisite for the subsequent ligation of the two exon halves and the production of a mature tRNA (PubMed:24766809, PubMed:24766810). Its role in tRNA splicing and maturation is required for cerebellar development (PubMed:24766809, PubMed:24766810). Component of the pre-mRNA cleavage complex II (CF-II), which seems to be required for mRNA 3'-end formation. Also phosphorylates the 5'-terminus of exogenously introduced short interfering RNAs (siRNAs), which is a necessary prerequisite for their incorporation into the RNA-induced silencing complex (RISC). However, endogenous siRNAs and microRNAs (miRNAs) that are produced by the cleavage of dsRNA precursors by DICER1 already contain a 5'-phosphate group, so this protein may be dispensible for normal RNA-mediated gene silencing. {ECO:0000269|PubMed:17495927, ECO:0000269|PubMed:18648070, ECO:0000269|PubMed:24766809, ECO:0000269|PubMed:24766810}.
uniprot
proteins
mass_dalton
47646
uniprot
proteins
mutagenesis
MUTAGEN 127..128; /note="KS->AA: Abrogates RNA kinase activity. Abrogates complementation of tRNA splicing activity in yeast; when associated with A-128."; /evidence="ECO:0000269|PubMed:17495927, ECO:0000269|PubMed:18648070"; MUTAGEN 127; /note="K->A: Abrogates RNA kinase activity and tRNA splicing activity."; /evidence="ECO:0000269|PubMed:24766809"; MUTAGEN 151; /note="D->A: Abrogates complementation of tRNA splicing activity in yeast."; /evidence="ECO:0000269|PubMed:18648070
uniprot
proteins
protein_family
Clp1 family
uniprot
proteins
protein_family
Clp1 subfamily
uniprot
proteins
pubmed
11060040
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15109492
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17495927
uniprot
proteins
pubmed
18648070
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24766809
uniprot
proteins
pubmed
24766810
uniprot
proteins
pubmed
8896421
uniprot
proteins
sequence_length
425
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03035, ECO:0000269|PubMed:11060040, ECO:0000269|PubMed:24766810}.
uniprot
proteins