PRKDC - protein kinase, DNA-activated, catalytic subunit Gene

Also Known as HYRC; p350; DNAPK; DNPK1; HYRC1; IMD26; XRCC7; DNAPKc; DNA-PKC; DNA-PKcs

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5591

About PRKDC

Cytogenetic location: 8q11.21 Genomic coordinates (GRCh38): 8:47,773,111-47,960,136 (from NCBI)

This gene has 23 transcripts (splice variants), 188 orthologues, 5 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues.

Summary

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

PRKDC Products (2)

mRNA	Protein	Name
NM_006904.7	NP_008835.5	DNA-dependent protein kinase catalytic subunit isoform 1
NM_001081640.2	NP_001075109.1	DNA-dependent protein kinase catalytic subunit isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-dependent protein kinase activity	IDA IDA: Inferred from direct assay	15194694	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	19303849	GOA
enables U3 snoRNA binding	IDA IDA: Inferred from direct assay	32103174	GOA
enables double-stranded DNA binding	IDA IDA: Inferred from direct assay	22504299	GOA
enables histone H2AXS139 kinase activity	IDA IDA: Inferred from direct assay	14627815	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9442054	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	22504299	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	7671312	GOA
enables protein kinase activity	IMP IMP: Inferred from mutant phenotype	22504299	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	19303849	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	26237645	GOA
involved in activation of innate immune response	IDA IDA: Inferred from direct assay	28712728	GOA
involved in cellular response to insulin stimulus	IMP IMP: Inferred from mutant phenotype	19303849	GOA
involved in double-strand break repair	IMP IMP: Inferred from mutant phenotype	18710952	GOA
involved in maturation of 5.8S rRNA	IDA IDA: Inferred from direct assay	32103174	GOA
involved in mitotic G1 DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	21731742	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	24485452	GOA
involved in negative regulation of cGAS/STING signaling pathway	IDA IDA: Inferred from direct assay	33273464	GOA
acts upstream of or within peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	15194694	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	19303849	GOA
involved in peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	32103174	GOA
involved in positive regulation of double-strand break repair via nonhomologous end joining	IDA IDA: Inferred from direct assay	26237645	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19303849	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	26237645	GOA
involved in protein phosphorylation	IMP IMP: Inferred from mutant phenotype	22504299	GOA
involved in regulation of epithelial cell proliferation	IMP IMP: Inferred from mutant phenotype	18710952	GOA
involved in regulation of smooth muscle cell proliferation	IMP IMP: Inferred from mutant phenotype	25852083	GOA
involved in small-subunit processome assembly	IDA IDA: Inferred from direct assay	32103174	GOA
involved in telomere capping	IMP IMP: Inferred from mutant phenotype	18710952	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of DNA-dependent protein kinase complex	IPI IPI: Inferred from physical interaction	28840859	GOA
part of DNA-dependent protein kinase-DNA ligase 4 complex	IDA IDA: Inferred from direct assay	15194694	GOA
located in chromatin	IDA IDA: Inferred from direct assay	29478807	GOA
part of nonhomologous end joining complex	IDA IDA: Inferred from direct assay	20383123	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	27829214	GOA
located in nucleus	IDA IDA: Inferred from direct assay	22504299	GOA
part of protein-DNA complex	IDA IDA: Inferred from direct assay	22504299	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	22504299	GOA
part of small-subunit processome	IDA IDA: Inferred from direct assay	32103174	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	19303849	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

PRKDC Protein Structure

NUC194

FAT

PI3_PI4_kinase

FATC

0
700
1400
2100
2800
3500
4127 a.a.

Protein Preferred Names	Protein Names
DNA-dependent protein kinase catalytic subunit	DNA-PK catalytic subunit hyper-radiosensitivity of murine scid mutation, complementing 1 p460 protein kinase, DNA-activated, catalytic polypeptide

PRKDC Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PRKDC	P78527	AIRE	Homo sapiens	O43918	Anti Bait CoIP	20085707
Intra	PRKDC	P78527	SPI1	Homo sapiens	P17947	Pull Down	21575865
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	Anti Bait CoIP	26175416
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	Protein Kinase Assay	19303849
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	Anti Tag CoIP	35271311
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	Protein Kinase Assay	24485452
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	PLA	20711232
Intra	PRKDC	P78527	XRCC6	Homo sapiens	P12956	Anti Bait CoIP	21575865
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	Protein Kinase Assay	24485452
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	Protein Kinase Assay	19303849
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	PLA	20711232
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	Anti Bait CoIP	20085707
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	Anti Tag CoIP	35271311
Intra	PRKDC	P78527	XRCC5	Homo sapiens	P13010	X-Ray Diffraction	20023628
Intra	PRKDC	P78527	ETV1	Homo sapiens	P50549	Pull Down	21575865
Intra	PRKDC	P78527	AR	Homo sapiens	P10275	Anti Bait CoIP	26175416
Intra	PRKDC	P78527	MAPKAP1	Homo sapiens	Q9BPZ7	Anti Bait CoIP	24365180
Intra	PRKDC	P78527	ETS1	Homo sapiens	P14921	Pull Down	21575865

Cross: Cross-species interaction Intra: Intraspecies interaction

PRKDC Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80104	DNA PKcs Antibody (YA782)	WB, ICC/IF, IHC-P	Human
HY-P81270	DNA PKcs Antibody (YA957)	WB, IHC-F, IHC-P, ICC/IF, IP	Human
HY-P81270A	DNA PKcs Antibody (YA958)	WB, ICC/IF, IP	Human
HY-P81270AA	DNA PKcs Antibody (YA958)(PBS only)	WB, ICC/IF, IP	Human
HY-P81270B	DNA PKcs Antibody (YA959)	WB, IHC-P, ICC/IF	Human, Mouse, Rat
HY-P82078	Phospho-DNA PKcs (Ser2056) Antibody (YA1823)	WB, IHC-P, ICC/IF	Human
HY-P84439	PRKDC Antibody (YA4136)	IHC-P, ICC/IF, ELISA	Human
HY-P84439A	PRKDC Antibody (YA4136)(PBS only)	IHC-P, ICC/IF, ELISA	Human
HY-P86339	DNA PKcs Antibody (YA6031)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson-Gilford Disease Hutchinson Gilford Progeria Syndrome Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Werner Syndrome	Werner'S Syndrome WRN Adult Progeria Ws Adult Premature Ageing Syndrome Adult Premature Aging Syndrome Werners Syndrome
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Brain Stem Medulloblastoma
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis De Sanctis-Cacchione Syndrome Xp Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Nijmegen Breakage Syndrome	Berlin Breakage Syndrome NBS Microcephaly, Normal Intelligence And Immunodeficiency Ataxia-Telangiectasia Variant Ataxia-Telangiectasia Variant V1 Seemanova Syndrome Ii Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome Seemanova Syndrome Type 2 At-V1 Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome Microcephaly Immunodeficiency Lymphoreticuloma Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence Seemanova Syndrome 2 Ataxia-Telangiectasia Variant 1 Seemanova Syndrome At V1 Ataxia-Telangiectasia, Variant 1 Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome V-At Ataxia Telangiectasia Variant V1
Hemangioma Of Subcutaneous Tissue	Angioma Of The Subcutaneous Tissue Subcutaneous Haemangioma Subcutaneous Hemangioma
Lig4 Syndrome	Dna Ligase Iv Deficiency Ligase 4 Syndrome LIG4S
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Severe Combined Immunodeficiency, Athabascan Type Severe Combined Immunodeficiency Due To Dclre1c Deficiency Rs-Scid Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, With Sensitivity To Ionizing Radiation Scid Due To Artemis Deficiency Scid Due To Dclre1c Deficiency Scid, Athabascan Type Scid, Athabaskan Type Severe Combined Immunodeficiency Due To Artemis Deficiency Severe Combined Immunodeficiency, Athabaskan Type SCIDA Severe Combined Immunodeficiency, Athabascan-Type Artemis Deficiency Severe Combined Immunodeficiency Athabaskan Type Severe Combined Immunodeficiency Autosomal Recessive T-Cell-Negative/B-Cell-Negative/Nk-Cell-Positive With Sensitivity To Ionizing Radiation RSSCID Athabascan Scid Immunodeficiency, Severe Combined, Athabascan Type Severe Combined Immunodeficiency, Athabaskan-Type
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Immunodeficiency 26	Severe Combined Immunodeficiency Due To Dna-Pkcs Deficiency Scid Due To Dna-Pkcs Deficiency Imd26 Immunodeficiency 26, With Or Without Neurologic Abnormalities
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Cervical Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of The Cervix Uteri
Autosomal Recessive Cerebellar Ataxia	Arca
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Immunodeficiency 26 With Or Without Neurologic Abnormalities	IMD26 Immunodeficiency 26, With Or Without Neurologic Abnormalities Immunodeficiency 26 Without Neurologic Abnormalities Immunodeficiency, Type 26, With/Without Neurologic Abnormalities
Thymus Lymphoma	Thymic Lymphoma
Adenoid Cystic Carcinoma	Adenocystic Carcinoma Cribriform Carcinoma Cylindroma Carcinoma Adenoid Cystic Carcinoma, Adenoid Cystic Adenoid Cystic Carcinoma Of Salivary Gland Eccrine Dermal Cylindroma Carcinoma, Cribriform
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11151	PRKDC Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11152	Prkdc Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS11153	Prkdc Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRKDC	VGNC	VGNC:33339
Felis catus	PRKDC	VGNC	VGNC:69069
Macaca mulatta	PRKDC	VGNC	VGNC:76418
Canis familiaris	PRKDC	VGNC	VGNC:44989
Rattus norvegicus	PRKDC	RGD	RGD:1308982
Mus musculus	PRKDC	MGD	MGI:104779
Others	PRKDC	NCBI