CLP1 (cleavage factor polyribonucleotide kinase subunit 1)

2003-11-01  

Identity

HGNC
CLP1
LOCATION
11q12.1
LOCUSID
10978
ALIAS
HEAB,hClp1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
338643612021RNA kinase CLP1/Cbc regulates meiosis initiation in spermatogenesis.7
342736192021Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.5
338643612021RNA kinase CLP1/Cbc regulates meiosis initiation in spermatogenesis.7
342736192021Modeling a human CLP1 mutation in mouse identifies an accumulation of tyrosine pre-tRNA fragments causing pontocerebellar hypoplasia type 10.5
301397992018Reconstitution of mammalian cleavage factor II involved in 3' processing of mRNA precursors.29
301397992018Reconstitution of mammalian cleavage factor II involved in 3' processing of mRNA precursors.29
247668092014Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.120
247668102014CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.139
247668092014Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.120
247668102014CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.139
186480702008Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo.40
186480702008Human RNA 5'-kinase (hClp1) can function as a tRNA splicing enzyme in vivo.40
174959272007The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs.110
174959272007The human RNA kinase hClp1 is active on 3' transfer RNA exons and short interfering RNAs.110
110600402000Human pre-mRNA cleavage factor II(m) contains homologs of yeast proteins and bridges two other cleavage factors.103

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)