CLP1 - cleavage factor polyribonucleotide kinase subunit 1 Gene

Also Known as HEAB; hClp1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10978

About CLP1

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:57,657,762-57,661,865 (from NCBI)

This gene has 7 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 48 phenotypes. Ubiquitous expression in bone marrow (RPKM 9.5), appendix (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing Endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]

CLP1 Products (2)

mRNA	Protein	Name
NM_001142597.2	NP_001136069.1	polyribonucleotide 5'-hydroxyl-kinase Clp1 isoform 2
NM_006831.3	NP_006822.1	polyribonucleotide 5'-hydroxyl-kinase Clp1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	IDA IDA: Inferred from direct assay	17495927	GOA
enables ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	IDA IDA: Inferred from direct assay	17495927	GOA
enables ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity	IMP IMP: Inferred from mutant phenotype	24766809	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in RISC complex assembly	IDA IDA: Inferred from direct assay	17495927	GOA
involved in cerebellar cortex development	IMP IMP: Inferred from mutant phenotype	24766809	GOA
involved in global gene silencing by mRNA cleavage	IMP IMP: Inferred from mutant phenotype	17495927	GOA
involved in tRNA splicing, via endonucleolytic cleavage and ligation	IDA IDA: Inferred from direct assay	17495927	GOA
involved in tRNA splicing, via endonucleolytic cleavage and ligation	IMP IMP: Inferred from mutant phenotype	24766809	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	24766810	GOA
part of tRNA-intron endonuclease complex	IDA IDA: Inferred from direct assay	17495927	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLP1 Protein Structure

MobB

Clp1

0
100
200
300
400
425 a.a.

Protein Preferred Names	Protein Names
polyribonucleotide 5'-hydroxyl-kinase Clp1	ATP/GTP-binding protein

CLP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	CLP1	Q92989	FGF16	Homo sapiens	O43320	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	FGF16	Homo sapiens	O43320	Y2H Array	32296183
Intra	CLP1	Q92989	PCMT1	Homo sapiens	P22061-2	Y2H Array	32296183
Intra	CLP1	Q92989	PCMT1	Homo sapiens	P22061-2	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	CLP1	Q92989	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	FTO	Homo sapiens	Q9C0B1-2	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	FTO	Homo sapiens	Q9C0B1-2	Validated Y2H	32296183
Intra	CLP1	Q92989	FTO	Homo sapiens	Q9C0B1-2	Y2H Array	32296183
Intra	CLP1	Q92989	PCF11	Homo sapiens	O94913	Anti Tag CoIP	33961781
Intra	CLP1	Q92989	TSEN54	Homo sapiens	Q7Z6J9	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	TSEN54	Homo sapiens	Q7Z6J9	Anti Tag CoIP	33961781
Intra	CLP1	Q92989	TSEN54	Homo sapiens	Q7Z6J9	Y2H Array	32296183
Intra	CLP1	Q92989	PRR3	Homo sapiens	P79522	Y2H Array	32296183
Intra	CLP1	Q92989	PRR3	Homo sapiens	P79522	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	PSMB5	Homo sapiens	P28074	Y2H Array	32296183
Intra	CLP1	Q92989	PSMB5	Homo sapiens	P28074	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	CEP164	Homo sapiens	Q9UPV0	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	CEP164	Homo sapiens	Q9UPV0	Validated Y2H	32296183
Intra	CLP1	Q92989	CEP164	Homo sapiens	Q9UPV0	Y2H Array	32296183
Intra	CLP1	Q92989	MESD	Homo sapiens	Q14696	Y2H Array	32296183
Intra	CLP1	Q92989	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	YJU2B	Homo sapiens	P13994	Y2H Array	32296183
Intra	CLP1	Q92989	YJU2B	Homo sapiens	P13994	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	SNF8	Homo sapiens	Q96H20	Validated Y2H	32296183
Intra	CLP1	Q92989	SNF8	Homo sapiens	Q96H20	Y2H Prey Pooling	32296183
Intra	CLP1	Q92989	SNF8	Homo sapiens	Q96H20	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

CLP1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86815	CLP1 Antibody (YA6508)	WB, IHC-P, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Pontocerebellar Hypoplasia, Type 10	Pontocerebellar Hypoplasia Type 10 PCH10 Clp1-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia 10 Hypoplasia, Pontocerebellar, Type 10
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia, Type 11	PCH11 Pontocerebellar Hypoplasia Type 11 Pontocerebellar Hypoplasia Due To Tbc1d23 Pontocerebellar Hypoplasia 11 Doid:0112324
Pontocerebellar Hypoplasia, Type 15	PCH15 Pontocerebellar Hypoplasia Type 15 Pontocerebellar Hypoplasia 15 Doid:0112326
Pontocerebellar Hypoplasia, Type 12	PCH12 Pontocerebellar Hypoplasia Type 12 Coasy-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia 12 Doid:0112327 Hypoplasia, Pontocerebellar, Type 12
Cardiofaciocutaneous Syndrome 3	CFC3 Cardiofaciocutaneous Syndrome, Type 3
Cardiofaciocutaneous Syndrome 2	CFC2 Cardiofaciocutaneous Syndrome, Type 2
Retinitis Pigmentosa 75	RP75 Retinitis Pigmentosa, Type 75
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2d Pcca PCH2D Progressive Cerebello-Cerebral Atrophy Cerebellocerebral Atrophy, Progressive Pontocerebellar Hypoplasia 2d Progressive Cerebellocerebral Atrophy Hypoplasia, Pontocerebellar, Type 2d
Pontocerebellar Hypoplasia, Type 1d	PCH1D Pontocerebellar Hypoplasia Type 1d Pontocerebellar Hypoplasia 1d Doid:0112323 Hypoplasia, Pontocerebellar, Type 1d
Pontocerebellar Hypoplasia, Type 4	Pontocerebellar Hypoplasia Type 4 PCH4 Olivopontocerebellar Hypoplasia Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia Pontocerebellar Hypoplasia 4 Young Mckeever Squier Syndrome Hypoplasia, Pontocerebellar, Type 4
Polymicrogyria, Bilateral Temporooccipital	Bilateral Parasagittal Parieto-Occipital Polymicrogyria BTOP Bilateral Temporooccipital Polymicrogyria Polymicrogyria
Pontocerebellar Hypoplasia, Type 3	Pontocerebellar Hypoplasia Type 3 Cerebellar Atrophy With Progressive Microcephaly PCH3 Clam Pch With Optic Atrophy Pontocerebellar Hypoplasia 3 Hypoplasia, Pontocerebellar, Type 3
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02829	CLP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02895	CNNM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03005	COLEC12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS06145	HEXIM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18881	Colec12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19585	Clp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21534	Cnnm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26082	Clp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CLP1	VGNC	VGNC:27457
Macaca mulatta	CLP1	VGNC	VGNC:107439
Mus musculus	CLP1	MGD	MGI:2138968
Felis catus	CLP1	VGNC	VGNC:60971
Rattus norvegicus	CLP1	RGD	RGD:1307679
Canis familiaris	CLP1	VGNC	VGNC:39354
Others	CLP1	NCBI