Gene
kars1
- ID
- ZDB-GENE-021115-8
- Name
- lysyl-tRNA synthetase 1
- Symbol
- kars1 Nomenclature History
- Previous Names
-
- kars
- cb530 (1)
- wu:fa16h02
- zgc:92483
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable ATP:ADP adenylyltransferase activity; lysine-tRNA ligase activity; and tRNA binding activity. Predicted to be involved in several processes, including diadenosine tetraphosphate biosynthetic process; lysyl-tRNA aminoacylation; and positive regulation of macrophage activation. Predicted to act upstream of or within tRNA aminoacylation for protein translation. Predicted to be part of aminoacyl-tRNA synthetase multienzyme complex. Predicted to be active in mitochondrion. Is expressed in several structures, including alar plate midbrain region; digestive system; immature eye; musculature system; and nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease recessive intermediate B and autosomal recessive nonsyndromic deafness 89. Orthologous to human KARS1 (lysyl-tRNA synthetase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 14 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb530 (18 images)
- IMAGE:7163904 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hi2586Tg | Transgenic insertion | Intron 1 | Unknown | DNA | |
| la011464Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| omf1 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| omf2 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| omf3 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa694 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa15144 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21133 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa21134 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 9 of 9
Show
1 - 7 of 7
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 89 | Alliance | Deafness, autosomal recessive 89 | 613916 |
| Charcot-Marie-Tooth disease recessive intermediate B | Alliance | ?Charcot-Marie-Tooth disease, recessive intermediate, B | 613641 |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | 619196 | ||
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | 619147 |
1 - 4 of 4
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004364 | Aminoacyl-tRNA synthetase, class II (D/K/N) |
| Domain | IPR004365 | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type |
| Domain | IPR006195 | Aminoacyl-tRNA synthetase, class II |
| Domain | IPR018149 | Lysyl-tRNA synthetase, class II, C-terminal |
| Domain | IPR044136 | Lysine-tRNA ligase, class II, N-terminal |
1 - 5 of 9 Show all
Domain Details Per Protein
| Protein | Additional Resources | Length | Aminoacyl-tRNA synthetase, class II | Aminoacyl-tRNA synthetase, class II (D/K/N) | Bacterial/eukaryotic lysine-tRNA ligase, class II | Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL) | Lysine-tRNA ligase, class II | Lysine-tRNA ligase, class II, N-terminal | Lysyl-tRNA synthetase, class II, C-terminal | Nucleic acid-binding, OB-fold | OB-fold nucleic acid binding domain, AA-tRNA synthetase-type |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6DHE6 | InterPro | 602 | |||||||||
| UniProtKB:A0A0R4IC11 | InterPro | 577 |
1 - 2 of 2
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | Fosmid | CH1073-68F2 | ZFIN Curated Data | |
| Encodes | EST | cb530 | Thisse et al., 2001 | |
| Encodes | EST | fa16h02 | ||
| Encodes | EST | IMAGE:7163904 | Thisse et al., 2004 | |
| Encodes | cDNA | MGC:92483 | ZFIN Curated Data |
1 - 5 of 5
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001002386 (1) | 2594 nt | ||
| Genomic | GenBank:CU651676 (1) | 35428 nt | ||
| Polypeptide | UniProtKB:Q6DHE6 (1) | 602 aa |
- Wu, X., Chen, J., Liu, C., Wang, X., Zhou, H., Mai, K., He, G. (2022) Slc38a9 Deficiency Induces Apoptosis and Metabolic Dysregulation and Leads to Premature Death in Zebrafish. International Journal of Molecular Sciences. 23(8):
- Lin, S.J., Vona, B., Barbalho, P.G., Kaiyrzhanov, R., Maroofian, R., Petree, C., Severino, M., Stanley, V., Varshney, P., Bahena, P., Alzahrani, F., Alhashem, A., Pagnamenta, A.T., Aubertin, G., Estrada-Veras, J.I., Hernández, H.A.D., Mazaheri, N., Oza, A., Thies, J., Renaud, D.L., Dugad, S., McEvoy, J., Sultan, T., Pais, L.S., Tabarki, B., Villalobos-Ramirez, D., Rad, A., Genomics England Research Consortium, Galehdari, H., Ashrafzadeh, F., Sahebzamani, A., Saeidi, K., Torti, E., Elloumi, H.Z., Mora, S., Palculict, T.B., Yang, H., Wren, J.D., Ben Fowler, ., Joshi, M., Behra, M., Burgess, S.M., Nath, S.K., Hanna, M.G., Kenna, M., Merritt, J.L., Houlden, H., Karimiani, E.G., Zaki, M.S., Haaf, T., Alkuraya, F.S., Gleeson, J.G., Varshney, G.K. (2021) Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1933-1943
- Chen, D., Zhang, Z., Chen, C., Yao, S., Yang, Q., Li, F., He, X., Ai, C., Wang, M., Guan, M.X. (2019) Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism. Nucleic acids research. 47(10):5341-5355
- Zhang, Q., Zhang, L., Chen, D., He, X., Yao, S., Zhang, Z., Chen, Y., Guan, M.X. (2018) Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function. Nucleic acids research. 46(20):10930-10945
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Waldron, A.L., Cahan, S.H., Franklyn, C.S., Ebert, A.M. (2017) A single Danio rerio hars gene encodes both cytoplasmic and mitochondrial histidyl-tRNA synthetases. PLoS One. 12:e0185317
- Smith, L.C., Clark, J.C., Bisesi, J.H., Ferguson, P.L., Sabo-Attwood, T. (2016) Differential recruitment of co-regulatory proteins to the human estrogen receptor 1 in response to xenoestrogens. Comparative biochemistry and physiology. Part D, Genomics & proteomics. 19:159-73
- Varshney, G.K., Pei, W., LaFave, M.C., Idol, J., Xu, L., Gallardo, V., Carrington, B., Bishop, K., Jones, M., Li, M., Harper, U., Huang, S.C., Prakash, A., Chen, W., Sood, R., Ledin, J., Burgess, S.M. (2015) High-throughput gene targeting and phenotyping in zebrafish using CRISPR/Cas9. Genome research. 25(7):1030-42
- Recher, G., Jouralet, J., Brombin, A., Heuzé, A., Mugniery, E., Hermel, J.M., Desnoulez, S., Savy, T., Herbomel, P., Bourrat, F., Peyriéras, N., Jamen, F., and Joly, J.S. (2013) Zebrafish midbrain slow-amplifying progenitors exhibit high levels of transcripts for nucleotide and ribosome biogenesis. Development (Cambridge, England). 140(24):4860-9
- Santos-Cortez, R.L., Lee, K., Azeem, Z., Antonellis, P.J., Pollock, L.M., Khan, S., Irfanullah, I., Andrade-Elizondo, P.B., Chiu, I., Adams, M.D., Basit, S., Smith, J.D., Nickerson, D.A., McDermott, B.M., Ahmad, W., and Leal, S.M. (2013) Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89. American journal of human genetics. 93(1):132-40
1 - 10 of 15
Show