Gene
jak3
- ID
- ZDB-GENE-070725-4
- Name
- Janus kinase 3 (a protein tyrosine kinase, leukocyte)
- Symbol
- jak3 Nomenclature History
- Previous Names
-
- sb:eu418
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to enable growth hormone receptor binding activity and non-membrane spanning protein tyrosine kinase activity. Acts upstream of or within T cell differentiation in thymus and natural killer cell differentiation. Predicted to be located in cytoskeleton and membrane. Predicted to be active in cytosol. Is expressed in several structures, including eye; immune system; liver; male organism; and pleuroperitoneal region. Used to study severe combined immunodeficiency. Human ortholog(s) of this gene implicated in hematologic cancer (multiple) and severe combined immunodeficiency. Orthologous to human JAK3 (Janus kinase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 8 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu418 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
fb102 | Allele with one delins | Unknown | Frameshift, Premature Stop | TALEN | |
mdu9 | Allele with one insertion | Exon 13 | Unknown | CRISPR | |
mdu10 | Allele with one deletion | Exon 13 | Unknown | CRISPR | |
sa45312 | Allele with one point mutation | Unknown | Splice Site | ENU | |
t25078 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
zf3237 | unknown | Unknown | Unknown | not specified | |
zf3747 | Allele with one MNV | Unknown | Unknown | CRISPR |
1 - 7 of 7
Show
Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-jak3 | (2) | |
MO1-jak3 | N/A | Iwanami et al., 2011 |
MO2-jak3 | N/A | Sertori et al., 2016 |
TALEN1-jak3 | (3) |
1 - 4 of 4
Show
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
janus kinase-3 deficiency | Alliance | Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type | 600802 |
1 - 1 of 1
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
severe combined immunodeficiency | jak3mdu9/mdu9 | standard conditions | Basheer et al., 2022 |
1 - 1 of 1
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | Band 4.1 domain | FERM central domain | FERM domain | FERM F1 lobe ubiquitin-like domain | JAK1-3/TYK2, pleckstrin homology-like domain | JAK, FERM F2 lobe domain | Janus Kinase (JAK) | PH-like domain superfamily | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine-threonine/tyrosine-protein kinase, catalytic domain | SH2 domain | SH2 domain superfamily | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, non-receptor Jak/Tyk2 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:B0V237 | InterPro | 1103 |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-205D4 | ||
Encodes | EST | eu418 | Thisse et al., 2005 |
1 - 2 of 2
Show
Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:XM_002663087 (1) | 4042 nt | ||
Genomic | GenBank:CR936448 (2) | 44724 nt | ||
Polypeptide | UniProtKB:B0V237 (1) | 1103 aa |
- Schorpp, M., Swann, J.B., Hess, I., Ho, H.C., Pietsch, T.W., Boehm, T. (2023) Foxn1 is not essential for T-cell development in teleosts. European journal of immunology. 53(12):e2350725
- Basheer, F., Bulleeraz, V., Ngo, V.Q.T., Liongue, C., Ward, A.C. (2022) In vivo impact of JAK3 A573V mutation revealed using zebrafish. Cellular and molecular life sciences : CMLS. 79:322
- Basheer, F., Lee, E., Liongue, C., Ward, A.C. (2022) Zebrafish Model of Severe Combined Immunodeficiency (SCID) Due to JAK3 Mutation. Biomolecules. 12(10):
- Garcia-Concejo, A., Larhammar, D. (2021) Protein kinase C family evolution in jawed vertebrates. Developmental Biology. 479:77-90
- O'Meara, C.P., Guerri, L., Lawir, D.F., Mateos, F., Iconomou, M., Iwanami, N., Soza-Ried, C., Sikora, K., Siamishi, I., Giorgetti, O., Peter, S., Schorpp, M., Boehm, T. (2021) Genetic landscape of T cells identifies synthetic lethality for T-ALL. Communications biology. 4:1201
- Wang, K., Xu, Q., Zhong, H. (2021) The Bruton's Tyrosine Kinase Inhibitor Ibrutinib Impairs the Vascular Development of Zebrafish Larvae. Frontiers in pharmacology. 11:625498
- Gong, L., Yu, L., Gong, X., Wang, C., Hu, N., Dai, X., Peng, C., Li, Y. (2020) Exploration of anti-inflammatory mechanism of forsythiaside A and forsythiaside B in CuSO4-induced inflammation in zebrafish by metabolomic and proteomic analyses. Journal of neuroinflammation. 17:173
- Mawed, S.A., He, Y., Zhang, J., Mei, J. (2020) Strategy of Hepatic Metabolic Defects Induced by beclin1 Heterozygosity in Adult Zebrafish. International Journal of Molecular Sciences. 21(4):
- Giffen, K.P., Liu, H., Kramer, K.L., He, D.Z. (2019) Expression of Protein-Coding Gene Orthologs in Zebrafish and Mouse Inner Ear Non-sensory Supporting Cells. Frontiers in neuroscience. 13:1117
- Lawir, D.F., Hess, I., Sikora, K., Iwanami, N., Siamishi, I., Schorpp, M., Boehm, T. (2019) Evolutionary transition from degenerate to nonredundant cytokine signaling networks supporting intrathymic T cell development. Proceedings of the National Academy of Sciences of the United States of America. 116(52):26759-26767
1 - 10 of 26
Show