2. Gene
  3. CLP1 - cleavage factor polyribonucleotide kinase subunit 1 Gene

CLP1 - cleavage factor polyribonucleotide kinase subunit 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HEAB; hClp1

Gene ID: 10978 | Gene type: protein coding

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

CLP1 Protein Structure

MobB

MobB: Molybdopterin guanine dinucleotide synthesis protein B (115 - 230)

Clp1

Clp1: Pre-mRNA cleavage complex II protein Clp1 (232 - 423)

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  • 425 a.a.
Protein Preferred Names Protein Names

polyribonucleotide 5'-hydroxyl-kinase Clp1

ATP/GTP-binding protein

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02829 CLP1 Human Pre-designed siRNA Set A Pre-designed Sets / 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