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

CLP1 - cleavage factor polyribonucleotide kinase subunit 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：裂解因子多核糖核苷酸激酶亚单位 1

种属: Homo sapiens

同用名: HEAB; hClp1

基因 ID: 10978 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 Clp1 家族的一个成员。所编码的蛋白质是一种多功能激酶，它是 tRNA 剪接核酸内切酶复合物的一个组成部分，也是前体 mRNA 切割复合物 II 的一个组成部分。该蛋白质与 tRNA、mRNA 和 siRNA 成熟有关。该基因的突变与 10 型脑桥小脑发育不全 (PCH10) 相关。已发现该基因编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2014 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity IDA
IDA: 通过直接分析推断
17495927 GOA
enables ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity IDA
IDA: 通过直接分析推断
17495927 GOA
enables ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity IMP
IMP: 通过突变表型推断
24766809 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RISC complex assembly IDA
IDA: 通过直接分析推断
17495927 GOA
involved in cerebellar cortex development IMP
IMP: 通过突变表型推断
24766809 GOA
involved in global gene silencing by mRNA cleavage IMP
IMP: 通过突变表型推断
17495927 GOA
involved in tRNA splicing, via endonucleolytic cleavage and ligation IDA
IDA: 通过直接分析推断
17495927 GOA
involved in tRNA splicing, via endonucleolytic cleavage and ligation IMP
IMP: 通过突变表型推断
24766809 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
24766810 GOA
part of tRNA-intron endonuclease complex IDA
IDA: 通过直接分析推断
17495927 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CLP1 蛋白结构

MobB

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

Clp1

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 425 a.a.
蛋白主名 其他名称

polyribonucleotide 5'-hydroxyl-kinase Clp1

ATP/GTP-binding protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02829 CLP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z