InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CLP1

Summary

InnateDB Protein

IDBP-591784.3

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

ENSP00000436066

InnateDB Gene

IDBG-46990 (CLP1)

Protein Structure

UniProt Annotation

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

Interactions

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

Gene Ontology

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

GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation
GO:0008219	cell death
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016310	phosphorylation
GO:0021695	cerebellar cortex development
GO:0030423	targeting of mRNA for destruction involved in RNA interference
GO:0031124	mRNA 3'-end processing
GO:0035087	siRNA loading onto RISC involved in RNA interference