InnateDB Protein
|
IDBP-46992.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
CLP1
|
Protein Name
|
CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)
|
Synonyms
|
hClp1; HEAB;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000304704
|
InnateDB Gene
|
IDBG-46990 (CLP1)
|
Protein Structure
|
|
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:0000269PubMed:17495927, ECO:0000269PubMed:18648070, ECO:0000269PubMed:24766809, ECO:0000269PubMed:24766810}.
|
Subcellular Localization |
Nucleus {ECO:0000255HAMAP-Rule:MF_03035, ECO:0000269PubMed:11060040, ECO:0000269PubMed:24766810}.
|
Disease Associations |
Note=Neurodegeneration with progressive brain atrophy 1 (NBA1): A neurological syndrome affecting both the central and peripheral nervous systems characterized by onset of slow, progressive, neurodegenerative features and/or static encephalopathy after 6 months of age. Clinical features include brain malformations and microcephaly, developmental delays, severe intellectual disabilities, absent or delayed speech and spontaneous epileptic seizures. Brain displays mild atrophy of the cerebellum, pons and corpus callosum together with progressive microcephaly. A progressive spinal motor neuron loss is observed, due to increased neural precursor cell susceptibility to apoptosis. The disease is caused by mutations affecting the gene represented in this entry. Neurodegeneration is due to defects in tRNA splicing (PubMed:24766809, PubMed:24766810). {ECO:0000269PubMed:24766809, ECO:0000269PubMed:24766810}.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
|
Protein-Protein |
16
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0005524
|
ATP binding
|
GO:0046404
|
ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity
|
GO:0051733
|
polydeoxyribonucleotide kinase activity
|
GO:0051736
|
ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR010655
Pre-mRNA cleavage complex II Clp1
IPR027417
P-loop containing nucleoside triphosphate hydrolase
IPR029007
MobB-type P-loop domain
|
PFAM |
PF06807
PF03205
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q92989
|
PhosphoSite |
PhosphoSite-Q92989
|
TrEMBL |
E9PKV5
|
UniProt Splice Variant |
|
Entrez Gene |
10978
|
UniGene |
Hs.523687
|
RefSeq |
NP_001136069
|
HUGO |
HGNC:16999
|
OMIM |
608757
|
CCDS |
CCDS44600
|
HPRD |
16382
|
IMGT |
|
EMBL |
AK300232
AK313007
AP000662
BC000446
CH471076
U73524
|
GenPept |
AAC50780
AAH00446
BAG35843
BAG62000
EAW73770
|
|
|