1. Gene
  2. Prkdc - protein kinase, DNA activated, catalytic polypeptide Gene

Prkdc - protein kinase, DNA activated, catalytic polypeptide Gene

中文名称:蛋白激酶,DNA 激活,催化多肽

种属: Mus musculus

同用名: p460; scid; slip; DNAPK; DNPK1; HYRC1; XRCC7; dxnph; DOXNPH; DNAPDcs; DNA-PKcs

基因 ID: 19090 | 基因类型: protein coding

关于 Prkdc

Chromosome 16: 15,455,730-15,660,099 forward strand.GRCm39:CM001009.3

This gene has 2 transcripts (splice variants), 188 orthologues, 5 paralogues and is associated with 159 phenotypes. Ubiquitous expression in CNS E11.5 (RPKM 1.5), frontal lobe adult (RPKM 1.2) and 27 other tissues.

功能概要

该基因编码的蛋白可启动 DNA 依赖性蛋白激酶活性;双链 DNA 结合活性;和酶结合活性。参与多个过程,包括调节细胞蛋白质代谢过程;造血干细胞分化的调节;和调节造血功能。作用于多个过程的上游或内部,包括 DNA 代谢过程;异位生殖细胞程序性细胞死亡;和免疫系统的发育。位于核内。以多种结构表达,包括中枢神经系统;神经视网膜;和胸腺原基。用于研究严重联合免疫缺陷、常染色体隐性遗传、T 细胞阴性、B 细胞阴性、Nk 细胞阳性。该基因与免疫缺陷 26 相关的人类直向同源基因。与人类 PRKDC(蛋白激酶、DNA 激活、催化亚基)直向同源。 [由基因组资源联盟提供,2022 年 4 月]

Enables DNA-dependent protein kinase activity; double-stranded DNA binding activity; and Enzyme binding activity. Involved in several processes, including regulation of cellular protein metabolic process; regulation of hematopoietic stem cell differentiation; and regulation of hemopoiesis. Acts upstream of or within several processes, including DNA metabolic process; ectopic germ cell programmed cell death; and immune system development. Located in nucleus. Is expressed in several structures, including central nervous system; neural retina; and thymus primordium. Used to study severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Human ortholog(s) of this gene implicated in immunodeficiency 26. Orthologous to human PRKDC (protein kinase, DNA-activated, catalytic subunit). [provided by Alliance of Genome Resources, Apr 2022]

Prkdc 基因产物(1)

mRNA Protein Name
NM_011159.2 NP_035289.2 DNA-dependent protein kinase catalytic subunit
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 DNA-dependent protein kinase activity IDA
IDA: 通过直接分析推断
23836881 MGI
enables double-stranded DNA binding IDA
IDA: 通过直接分析推断
20150414 MGI
enables enzyme binding IPI
IPI: 通过物理相互作用推断
20972425 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
21266349 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within B cell lineage commitment IMP
IMP: 通过突变表型推断
8788039 MGI
acts upstream of or within T cell differentiation in thymus IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within T cell lineage commitment IMP
IMP: 通过突变表型推断
8788039 MGI
acts upstream of or within T cell receptor V(D)J recombination IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within V(D)J recombination IGI
IGI: 通过遗传相互作用推断
23836881 MGI
acts upstream of or within brain development IGI
IGI: 通过遗传相互作用推断
16687486 MGI
acts upstream of or within double-strand break repair IMP
IMP: 通过突变表型推断
11751629 MGI
acts upstream of or within double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
23836881 MGI
acts upstream of or within ectopic germ cell programmed cell death IMP
IMP: 通过突变表型推断
17145779 MGI
acts upstream of or within heart development IGI
IGI: 通过遗传相互作用推断
16687486 MGI
acts upstream of or within immature B cell differentiation IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within immunoglobulin V(D)J recombination IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage IMP
IMP: 通过突变表型推断
12604618 MGI
acts upstream of or within lymphocyte differentiation IMP
IMP: 通过突变表型推断
8133891 MGI
involved in negative regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
24158435 MGI
acts upstream of or within positive regulation of apoptotic process IMP
IMP: 通过突变表型推断
17145779 MGI
involved in positive regulation of erythrocyte differentiation IMP
IMP: 通过突变表型推断
32103174 MGI
involved in positive regulation of lymphocyte differentiation IMP
IMP: 通过突变表型推断
32103174 MGI
involved in positive regulation of platelet formation IMP
IMP: 通过突变表型推断
32103174 MGI
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
32103174 MGI
acts upstream of or within pro-B cell differentiation IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within protein destabilization IDA
IDA: 通过直接分析推断
15194694 MGI
involved in regulation of circadian rhythm IMP
IMP: 通过突变表型推断
24158435 MGI
involved in regulation of hematopoietic stem cell differentiation IMP
IMP: 通过突变表型推断
32103174 MGI
acts upstream of or within response to gamma radiation IMP
IMP: 通过突变表型推断
9768755 MGI
acts upstream of or within response to ionizing radiation IMP
IMP: 通过突变表型推断
20150414 MGI
acts upstream of or within somitogenesis IGI
IGI: 通过遗传相互作用推断
16687486 MGI
acts upstream of or within telomere maintenance IMP
IMP: 通过突变表型推断
15010310 MGI
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
12604618 MGI
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

Prkdc 蛋白结构

NUC194

NUC194: pfam08163 (1812 - 2197)

DNAPKcs_CC5

DNAPKcs_CC5: pfam19704 (2208 - 2890)

FAT

FAT: pfam02259 (3023 - 3469)

TEL1

TEL1: cl34875 (3439 - 4012)

PIKKc_DNA-PK

PIKKc_DNA-PK: cd05172 (3718 - 4013)

FATC

FATC: pfam02260 (4096 - 4127)

  • 0
  • 700
  • 1400
  • 2100
  • 2800
  • 3500
  • 4128 a.a.
蛋白主名 其他名称

DNA-dependent protein kinase catalytic subunit

DNA-PK catalytic subunit

doxorubicin nephropathy

severe combined immunodeficiency

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Prkdc NCBI NCBI:5591