Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.1.-
Transferases;
Acyltransferases;
Transferring groups other than aminoacyl groups;
2.7.11.1
Transferases;
Transferring phosphorus-containing groups;
Protein-serine/threonine kinases;
non-specific serine/threonine protein kinase
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006955 | immune response |
| Biological Process | GO:0006954 | inflammatory response |
| Biological Process | GO:0045892 | negative regulation of DNA-templated transcription |
| Biological Process | GO:0032966 | negative regulation of collagen biosynthetic process |
| Biological Process | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| Biological Process | GO:0046597 | negative regulation of viral entry into host cell |
| Biological Process | GO:0016310 | phosphorylation |
| Biological Process | GO:0045893 | positive regulation of DNA-templated transcription |
| Biological Process | GO:0045345 | positive regulation of MHC class I biosynthetic process |
| Biological Process | GO:0045348 | positive regulation of MHC class II biosynthetic process |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0046677 | response to antibiotic |
| Biological Process | GO:0034341 | response to type II interferon |
| Molecular Function | GO:0005524 | ATP binding |
| Molecular Function | GO:0140297 | DNA-binding transcription factor binding |
| Molecular Function | GO:0005525 | GTP binding |
| Molecular Function | GO:0016746 | acyltransferase activity |
| Molecular Function | GO:0106310 | protein serine kinase activity |
| Molecular Function | GO:0004674 | protein serine/threonine kinase activity |
| Molecular Function | GO:0044877 | protein-containing complex binding |
| Molecular Function | GO:0000976 | transcription cis-regulatory region binding |
| Molecular Function | GO:0003713 | transcription coactivator activity |
| Cellular Component | GO:0016605 | PML body |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0005654 | nucleoplasm |
| InterPro
|
InterPro name |
|---|---|
| IPR001611 | Leucine-rich repeat |
| IPR007111 | NACHT nucleoside triphosphatase |
| IPR008095 | MHC class II transactivator |
| IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| IPR032675 | Leucine-rich repeat domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF05729 | NACHT domain |
| PF13516 | Leucine Rich repeat |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-877300 | Interferon gamma signaling | Internal node | R-HSA-168256 | Immune System |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000269 | PubMed:23007646 |
| Nucleus, PML body | ECO:0000269 | PubMed:23007646 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0000246 | Sinusitis |
| HP:0000371 | Acute otitis media |
| HP:0000988 | Skin rash |
| HP:0001080 | Biliary tract abnormality |
| HP:0001260 | Dysarthria |
| HP:0001370 | Rheumatoid arthritis |
| HP:0001386 | Joint swelling |
| HP:0001387 | Joint stiffness |
| HP:0001508 | Failure to thrive |
| HP:0001824 | Weight loss |
| HP:0001875 | Neutropenia |
| HP:0001876 | Pancytopenia |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies |
| HP:0001945 | Fever |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0001999 | Abnormal facial shape |
| HP:0002014 | Diarrhea |
| HP:0002024 | Malabsorption |
| HP:0002066 | Gait ataxia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002383 | Infectious encephalitis |
| HP:0002583 | Colitis |
| HP:0002633 | Vasculitis |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| HP:0002728 | Chronic mucocutaneous candidiasis |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0002829 | Arthralgia |
| HP:0002841 | Recurrent fungal infections |
| HP:0002923 | Rheumatoid factor positive |
| HP:0002960 | Autoimmunity |
| HP:0002965 | Cutaneous anergy |
| HP:0003139 | Panhypogammaglobulinemia |
| HP:0003565 | Elevated erythrocyte sedimentation rate |
| HP:0004313 | Decreased circulating antibody level |
| HP:0004385 | Protracted diarrhea |
| HP:0004429 | Recurrent viral infections |
| HP:0004432 | Agammaglobulinemia |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0005353 | Recurrent herpes |
| HP:0005354 | Lack of T cell function |
| HP:0005368 | Abnormality of humoral immunity |
| HP:0005386 | Recurrent protozoan infections |
| HP:0005401 | Recurrent candida infections |
| HP:0005403 | T lymphocytopenia |
| HP:0005407 | Decreased proportion of CD4-positive helper T cells |
| HP:0005764 | Polyarticular arthritis |
| HP:0006150 | Swan neck-like deformities of the fingers |
| HP:0006252 | Interphalangeal joint erosions |
| HP:0006562 | Viral hepatitis |
| HP:0007041 | Chronic lymphocytic meningitis |
| HP:0011227 | Elevated circulating C-reactive protein concentration |
| HP:0011473 | Villous atrophy |
| HP:0012276 | Digital flexor tenosynovitis |
| HP:0012378 | Fatigue |
| HP:0012384 | Rhinitis |
| HP:0025347 | Decreased circulating beta-2-microglobulin level |
| HP:0030151 | Cholangitis |
| HP:0030991 | Sclerosing cholangitis |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen |
| HP:0031390 | Reduced MHC II surface expression |
| HP:0031394 | Abnormal CD4:CD8 ratio |
| HP:0033034 | Anti-citrullinated protein antibody positivity |
| HP:0200124 | Chronic hepatitis due to cryptosporidium infection |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adrenal gland | glandular cells | Low | Enhanced |
| appendix | glandular cells | Low | Enhanced |
| appendix | lymphoid tissue | High | Enhanced |
| bronchus | respiratory epithelial cells | Medium | Enhanced |
| caudate | glial cells | Low | Enhanced |
| cerebellum | cells in granular layer | Low | Enhanced |
| cerebellum | cells in molecular layer | Low | Enhanced |
| cerebral cortex | endothelial cells | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| cervix | glandular cells | High | Enhanced |
| colon | endothelial cells | Medium | Enhanced |
| colon | glandular cells | Medium | Enhanced |
| duodenum | glandular cells | Medium | Enhanced |
| endometrium 1 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 1 | glandular cells | Medium | Enhanced |
| endometrium 2 | cells in endometrial stroma | Medium | Enhanced |
| endometrium 2 | glandular cells | High | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| fallopian tube | glandular cells | High | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| kidney | cells in glomeruli | High | Enhanced |
| kidney | cells in tubules | Medium | Enhanced |
| lung | alveolar cells | High | Enhanced |
| lung | macrophages | High | Enhanced |
| lymph node | germinal center cells | High | Enhanced |
| lymph node | non-germinal center cells | High | Enhanced |
| nasopharynx | respiratory epithelial cells | Medium | Enhanced |
| prostate | glandular cells | Low | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| salivary gland | glandular cells | Medium | Enhanced |
| seminal vesicle | glandular cells | Medium | Enhanced |
| skeletal muscle | myocytes | Low | Enhanced |
| skin 1 | Langerhans | Medium | Enhanced |
| skin 1 | fibroblasts | Medium | Enhanced |
| skin 1 | keratinocytes | Medium | Enhanced |
| skin 1 | melanocytes | Medium | Enhanced |
| small intestine | glandular cells | Medium | Enhanced |
| soft tissue 1 | peripheral nerve | Low | Enhanced |
| spleen | cells in red pulp | Medium | Enhanced |
| spleen | cells in white pulp | High | Enhanced |
| stomach 2 | glandular cells | High | Enhanced |
| tonsil | germinal center cells | High | Enhanced |
| tonsil | non-germinal center cells | High | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| mhc class ii deficiency | MONDO:0008855 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:209920 | Orphanet:572 |