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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | | ISO | RGD:735744 | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY | | ISO | RGD:735744 | 7240710 | | OMIM | | |
KEGG Pathway | Valine, leucine and isoleucine biosynthesis |
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KEGG Pathway | Valine, leucine and isoleucine biosynthesis |
# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
3. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
4. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
5. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
6. | GOA pipeline | RGD automated data pipeline |
7. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
8. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
9. | Cloning, sequencing and expression of a cDNA encoding mammalian valyl-tRNA synthetase. | Vilalta A, etal., Gene 1993 Jan 30;123(2):181-6. |
PMID:12477932 | PMID:14651853 | PMID:15060004 | PMID:24625528 | PMID:29476059 | PMID:30053369 |
Vars1 (Rattus norvegicus - Norway rat) |
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VARS1 (Homo sapiens - human) |
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Vars1 (Mus musculus - house mouse) |
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Vars1 (Chinchilla lanigera - long-tailed chinchilla) |
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VARS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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VARS1 (Canis lupus familiaris - dog) |
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Vars1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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VARS1 (Sus scrofa - pig) |
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VARS1 (Chlorocebus sabaeus - green monkey) |
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Vars1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Vars1
187 total Variants ![]() |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH134540 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 43 | 45 | 29 | 19 | 29 | 8 | 11 | 74 | 35 | 41 | 11 | 8 |
Low | 12 | 12 | 12 | ||||||||||
Below cutoff |
RefSeq Transcripts | NM_053292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006256047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017601548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039098431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC094348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
BC099236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX883045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH474121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ216008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JACYVU010000323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M98327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000001160 ⟹ ENSRNOP00000001160 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000081628 ⟹ ENSRNOP00000069473 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000087594 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000087861 ⟹ ENSRNOP00000072696 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_053292 ⟹ NP_445744 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006256047 ⟹ XP_006256109 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017601548 ⟹ XP_017457037 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039098431 ⟹ XP_038954359 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_445744 | (Get FASTA) | NCBI Sequence Viewer |
XP_006256109 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017457037 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038954359 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA42320 | (Get FASTA) | NCBI Sequence Viewer |
AAH99236 | (Get FASTA) | NCBI Sequence Viewer | |
CAE83981 | (Get FASTA) | NCBI Sequence Viewer | |
EDL83482 | (Get FASTA) | NCBI Sequence Viewer | |
EDL83484 | (Get FASTA) | NCBI Sequence Viewer | |
Q04462 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_445744 ⟸ NM_053292 |
- UniProtKB: | Q6MG65 (UniProtKB/Swiss-Prot), Q04462 (UniProtKB/Swiss-Prot), A6KTQ1 (UniProtKB/TrEMBL), A0A8L2UQS2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006256109 ⟸ XM_006256047 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q6MG65 (UniProtKB/Swiss-Prot), Q04462 (UniProtKB/Swiss-Prot), A6KTQ1 (UniProtKB/TrEMBL), A0A8L2UQS2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017457037 ⟸ XM_017601548 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8L2UQS2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000072696 ⟸ ENSRNOT00000087861 |
RefSeq Acc Id: | ENSRNOP00000069473 ⟸ ENSRNOT00000081628 |
RefSeq Acc Id: | ENSRNOP00000001160 ⟸ ENSRNOT00000001160 |
RefSeq Acc Id: | XP_038954359 ⟸ XM_039098431 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A6KTQ3 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q04462-F1-model_v2 | AlphaFold | Q04462 | 1-1264 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:3950 | AgrOrtholog |
BioCyc Gene | G2FUF-4629 | BioCyc |
BioCyc Pathway | TRNA-CHARGING-PWY [tRNA charging] | BioCyc |
Ensembl Genes | ENSRNOG00000000867 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000001160 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOP00000072696.2 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000001160 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOT00000087861.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.380 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.20.1050.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.40.50.620 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
3.90.740.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7445434 | IMAGE-MGC_LOAD |
InterPro | aa-tRNA-synth_I_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
aa-tRNA-synth_Ia | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Anticodon_Ia_Val | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glutathione-S-Trfase_C-like | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Glutathione-S-Trfase_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GST_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
M/V/L/I-tRNA-synth_anticd-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rossmann-like_a/b/a_fold | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNAsynth_Ia_anticodon-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Val-tRNA_synth_C_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Val/Leu/Ile-tRNA-synth_edit | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Valyl-tRNA_ligase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:25009 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:116417 | IMAGE-MGC_LOAD |
NCBI Gene | 25009 | ENTREZGENE |
PANTHER | PTHR11946 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
VALINE--TRNA LIGASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Anticodon_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GST_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
tRNA-synt_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Vars1 | PhenoGen |
PRINTS | TRNASYNTHVAL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | AA_TRNA_LIGASE_I | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GST_CTER | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Nucleotidylyl transferase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF47323 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF47616 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF50677 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8L2UQS2 | ENTREZGENE, UniProtKB/TrEMBL |
A6KTQ1 | ENTREZGENE, UniProtKB/TrEMBL | |
A6KTQ3 | ENTREZGENE, UniProtKB/TrEMBL | |
Q04462 | ENTREZGENE | |
Q6MG65 | ENTREZGENE | |
SYVC_RAT | UniProtKB/Swiss-Prot | |
UniProt Secondary | Q6MG65 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-08-08 | Vars1 | valyl-tRNA synthetase 1 | Vars | valyl-tRNA synthetase | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-15 | Vars | valyl-tRNA synthetase | Vars2 | valyl-tRNA synthetase 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-06-10 | Vars2 | Valyl-tRNA synthetase 2 | Symbol and Name status set to approved | 70586 | APPROVED |
Note Type | Note | Reference |
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gene_domains | contains a tRNA 3'-end-binding motif, KMSKS, and putative Val-binding motif, EWCISRQ | 634466 |