Entity Details

Primary name CLP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92989
EntryNameCLP1_HUMAN
FullNamePolyribonucleotide 5'-hydroxyl-kinase Clp1
TaxID9606
Evidenceevidence at protein level
Length425
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesCLP1

GO terms

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GOName
GO:0000214 tRNA-intron endonuclease complex
GO:0000398 mRNA splicing, via spliceosome
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005849 mRNA cleavage factor complex
GO:0006369 termination of RNA polymerase II transcription
GO:0006378 mRNA polyadenylation
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation
GO:0006396 RNA processing
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
GO:0046404 polydeoxyribonucleotide 5'-hydroxyl-kinase activity
GO:0051731 polynucleotide 5'-hydroxyl-kinase activity
GO:0051733 polydeoxyribonucleotide kinase activity
GO:0051736 polyribonucleotide 5'-hydroxyl-kinase activity

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR010655 Pre-mRNA cleavage complex subunit Clp1, C-terminalDomainDomain
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR028606 Polyribonucleotide 5-hydroxyl-kinase Clp1FamilyFamily
IPR032319 Polyribonucleotide 5'-hydroxyl-kinase Clp1, P-loop domainDomainDomain
IPR032324 Clp1, N-terminal beta-sandwich domainDomainDomain
IPR038238 Clp1, C-terminal domain superfamilyFamilyHomologous superfamily
IPR038239 Clp1, N-terminal beta-sandwich domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615803 OMIMPontocerebellar hypoplasia 10 (PCH10)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. 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).