Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
2.3.2.27
Transferases;
Acyltransferases;
Aminoacyltransferases;
RING-type E3 ubiquitin transferase
3.1.-.-
Hydrolases;
Acting on ester bonds;
;
| PDB | Resolution (Å) | PDB name |
|---|
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0030183 | B cell differentiation |
| Biological Process | GO:0006310 | DNA recombination |
| Biological Process | GO:0033077 | T cell differentiation in thymus |
| Biological Process | GO:0043029 | T cell homeostasis |
| Biological Process | GO:0033151 | V(D)J recombination |
| Biological Process | GO:0002250 | adaptive immune response |
| Biological Process | GO:0006325 | chromatin organization |
| Biological Process | GO:0010390 | histone monoubiquitination |
| Biological Process | GO:0006955 | immune response |
| Biological Process | GO:0043154 | negative regulation of cysteine-type endopeptidase activity involved in apoptotic process |
| Biological Process | GO:0070244 | negative regulation of thymocyte apoptotic process |
| Biological Process | GO:0045582 | positive regulation of T cell differentiation |
| Biological Process | GO:0002331 | pre-B cell allelic exclusion |
| Biological Process | GO:0051865 | protein autoubiquitination |
| Biological Process | GO:2000822 | regulation of behavioral fear response |
| Biological Process | GO:0048538 | thymus development |
| Biological Process | GO:0008542 | visual learning |
| Molecular Function | GO:0003677 | DNA binding |
| Molecular Function | GO:0004519 | endonuclease activity |
| Molecular Function | GO:0042393 | histone binding |
| Molecular Function | GO:0046872 | metal ion binding |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0043565 | sequence-specific DNA binding |
| Molecular Function | GO:0061630 | ubiquitin protein ligase activity |
| Molecular Function | GO:0004842 | ubiquitin-protein transferase activity |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0097519 | DNA recombinase complex |
| Cellular Component | GO:1905347 | endodeoxyribonuclease complex |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR001841 | Zinc finger, RING-type |
| IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| IPR017907 | Zinc finger, RING-type, conserved site |
| IPR019485 | V(D)J recombination-activating protein 1, Zinc finger |
| IPR023336 | RAG nonamer-binding domain |
| IPR024627 | V(D)J recombination-activating protein 1 |
| IPR035714 | RAG1 importin-binding |
| IPR036236 | Zinc finger C2H2 superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF10426 | Recombination-activating protein 1 zinc-finger domain |
| PF12560 | RAG1 importin binding |
| PF12940 | Recombination-activation protein 1 (RAG1), recombinase |
| PF13923 | Zinc finger, C3HC4 type (RING finger) |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-1266695 | Interleukin-7 signaling | Leaf | R-HSA-168256 | Immune System |
| R-HSA-5687128 | MAPK6/MAPK4 signaling | Leaf | R-HSA-162582 | Signal Transduction |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000255 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000100 | Nephrotic syndrome |
| HP:0000265 | Mastoiditis |
| HP:0000388 | Otitis media |
| HP:0000509 | Conjunctivitis |
| HP:0000778 | Hypoplasia of the thymus |
| HP:0000821 | Hypothyroidism |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0000958 | Dry skin |
| HP:0000969 | Edema |
| HP:0000980 | Pallor |
| HP:0000988 | Skin rash |
| HP:0000989 | Pruritus |
| HP:0001019 | Erythroderma |
| HP:0001072 | Thickened skin |
| HP:0001287 | Meningitis |
| HP:0001369 | Arthritis |
| HP:0001433 | Hepatosplenomegaly |
| HP:0001508 | Failure to thrive |
| HP:0001596 | Alopecia |
| HP:0001744 | Splenomegaly |
| HP:0001831 | Short toe |
| HP:0001873 | Thrombocytopenia |
| HP:0001880 | Eosinophilia |
| HP:0001888 | Lymphopenia |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0001903 | Anemia |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies |
| HP:0001945 | Fever |
| HP:0001974 | Leukocytosis |
| HP:0002014 | Diarrhea |
| HP:0002028 | Chronic diarrhea |
| HP:0002090 | Pneumonia |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002240 | Hepatomegaly |
| HP:0002665 | Lymphoma |
| HP:0002716 | Lymphadenopathy |
| HP:0002718 | Recurrent bacterial infections |
| HP:0002720 | Decreased circulating IgA level |
| HP:0002721 | Immunodeficiency |
| HP:0002743 | Recurrent enteroviral infections |
| HP:0002840 | Lymphadenitis |
| HP:0002841 | Recurrent fungal infections |
| HP:0002850 | Decreased circulating total IgM |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0002960 | Autoimmunity |
| HP:0003075 | Hypoproteinemia |
| HP:0003139 | Panhypogammaglobulinemia |
| HP:0003593 | Infantile onset |
| HP:0004313 | Decreased circulating antibody level |
| HP:0004315 | Decreased circulating IgG level |
| HP:0004332 | Abnormal lymphocyte morphology |
| HP:0004385 | Protracted diarrhea |
| HP:0004429 | Recurrent viral infections |
| HP:0004430 | Severe combined immunodeficiency |
| HP:0005365 | Severe B lymphocytopenia |
| HP:0005387 | Combined immunodeficiency |
| HP:0005390 | Recurrent opportunistic infections |
| HP:0005403 | T lymphocytopenia |
| HP:0006515 | Interstitial pneumonitis |
| HP:0007549 | Desquamation of skin soon after birth |
| HP:0008866 | Failure to thrive secondary to recurrent infections |
| HP:0010975 | Abnormal B cell count |
| HP:0010976 | B lymphocytopenia |
| HP:0011839 | Abnormal T cell count |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen |
| HP:0031402 | Reduced antigen-specific T cell proliferation |
| HP:0040089 | Abnormal natural killer cell count |
| HP:0040334 | Purulent rhinitis |
| HP:0045080 | Decreased proportion of CD3-positive T cells |
| HP:0100646 | Thyroiditis |
| HP:0100806 | Sepsis |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0200117 | Recurrent upper and lower respiratory tract infections |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| microcephaly | MONDO:0001149 | Q02 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | ||
| combined immunodeficiency with skin granulomas | MONDO:0009306 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:233650 | Orphanet:157949 |
| severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive | MONDO:0011086 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:601457 | Orphanet:331206 |
| omenn syndrome | MONDO:0011338 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:603554 | Orphanet:39041 |
| combined immunodeficiency due to partial rag1 deficiency | MONDO:0012359 | D81 | chapter3, Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism | OMIM:609889 | Orphanet:231154 |