CLP1 (cleavage factor polyribonucleotide kinase subunit 1)

2003-11-01  

Identity

HGNC
LOCATION
11q12.1
LOCUSID
ALIAS
HEAB,hClp1
FUSION GENES

Other Information

Locus ID:

NCBI: 10978
MIM: 608757
HGNC: 16999
Ensembl: ENSG00000172409

Variants:

dbSNP: 10978
ClinVar: 10978
TCGA: ENSG00000172409
COSMIC: CLP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172409ENST00000302731Q92989
ENSG00000172409ENST00000525602Q92989
ENSG00000172409ENST00000529430E9PL17
ENSG00000172409ENST00000529773E9PKV5
ENSG00000172409ENST00000533682Q92989
ENSG00000172409ENST00000533905E9PJM4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
Processing of Intronless Pre-mRNAsREACTOMER-HSA-77595
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
174959272007The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs.87
110600402000Human pre-mRNA cleavage factor II(m) contains homologs of yeast proteins and bridges two other cleavage factors.84
247668102014CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.80
247668092014Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.74
186480702008Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo.28
301397992018Reconstitution of mammalian cleavage factor II involved in 3' processing of mRNA precursors.4

Citation

Dessen P

CLP1 (cleavage factor polyribonucleotide kinase subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/40810/clp1-(cleavage-factor-polyribonucleotide-kinase-subunit-1)