From NCBI Gene: Immunodeficiency 26 with or without neurologic abnormalitiesFrom UniProt: Immunodeficiency 26 with or without neurologic abnormalities (IMD26): A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. [MIM:615966]

     From NCBI Gene: 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] From UniProt: Serine/threonine-protein kinase that acts as a molecular sensor for DNA damage. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break (DSB) repair and V(D)J recombination. Must be bound to DNA to express its catalytic properties. Promotes processing of hairpin DNA structures in V(D)J recombination by activation of the hairpin endonuclease artemis (DCLRE1C). The assembly of the DNA-PK complex at DNA ends is also required for the NHEJ ligation step. Required to protect and align broken ends of DNA. May also act as a scaffold protein to aid the localization of DNA repair proteins to the site of damage. Found at the ends of chromosomes, suggesting a further role in the maintenance of telomeric stability and the prevention of chromosomal end fusion. Also involved in modulation of transcription. Recognizes the substrate consensus sequence [ST]-Q. Phosphorylates 'Ser-139' of histone variant H2AX/H2AFX, thereby regulating DNA damage response mechanism. Phosphorylates DCLRE1C, c-Abl/ABL1, histone H1, HSPCA, c-jun/JUN, p53/TP53, PARP1, POU2F1, DHX9, SRF, XRCC1, XRCC1, XRCC4, XRCC5, XRCC6, WRN, MYC and RFA2. Can phosphorylate C1D not only in the presence of linear DNA but also in the presence of supercoiled DNA. Ability to phosphorylate p53/TP53 in the presence of supercoiled DNA is dependent on C1D. Contributes to the determination of the circadian period length by antagonizing phosphorylation of CRY1 'Ser-588' and increasing CRY1 protein stability, most likely through an indirect machanism. Interacts with CRY1 and CRY2; negatively regulates CRY1 phosphorylation.

The following transcription factors affect gene expression:

• p53

Enzyme Regulation:

Inhibited by wortmannin. Activity of the enzyme seems to be attenuated by autophosphorylation.

Molecular Function:

• Double-Stranded Dna Binding
• Protein Serine/Threonine Kinase Activity
• Dna-Dependent Protein Kinase Activity
• Atp Binding
• Transcription Factor Binding
• Poly(A) Rna Binding

Biological Processes:

• Somitogenesis
• Negative Regulation Of Protein Phosphorylation
• B Cell Lineage Commitment
• Pro-B Cell Differentiation
• T Cell Lineage Commitment
• Negative Regulation Of Immunoglobulin Production
• Positive Regulation Of Immune System Process
• Double-Strand Break Repair
• Double-Strand Break Repair Via Nonhomologous End Joining
• Cellular Protein Modification Process
• Brain Development
• Heart Development
• Cell Proliferation
• Intrinsic Apoptotic Signaling Pathway In Response To Dna Damage
• Response To Gamma Radiation
• Telomere Capping
• Peptidyl-Serine Phosphorylation
• Protein Destabilization
• Positive Regulation Of Type I Interferon Production
• Cellular Response To Insulin Stimulus
• T Cell Differentiation In Thymus
• Immunoglobulin V(D)J Recombination
• T Cell Receptor V(D)J Recombination
• Ectopic Germ Cell Programmed Cell Death
• Regulation Of Circadian Rhythm
• Positive Regulation Of Apoptotic Process
• Negative Regulation Of Apoptotic Process
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Positive Regulation Of Fibroblast Proliferation
• Rhythmic Process
• Spleen Development
• Thymus Development
• Positive Regulation Of Developmental Growth
• Regulation Of Smooth Muscle Cell Proliferation
• Signal Transduction Involved In Mitotic G1 Dna Damage Checkpoint
• Double-Strand Break Repair Via Alternative Nonhomologous End Joining
• Negative Regulation Of Cellular Senescence
• Negative Regulation Of Response To Gamma Radiation

Drug Bank:

• Caffeine