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

Homo sapiens

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

Gene ID: 5591 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (3)

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

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