KARS Gene
protein-coding GIFtS : 67
GCID: GC16 M075661
lysyl-tRNA synthetase
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Aliasesfor KARS gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section This gene clusters with an RNA geneSubcategory (RNA class): lncRNAQuality score for the ORGUL clustered with this gene is 3 Aliases Lysyl-TRNA Synthetase 1 2 3 LysRS3 KARS11 2 Lysine TRNA Ligase2 KARS21 2 Lysine--TRNA Ligase2 EC 6.1.1.63 8 KIAA00703 CMTRIB2 5 LysRS3 KRS2 EC 6.1.18
External Ids: HGNC: 6215 1 Entrez Gene: 3735 2 Ensembl: ENSG00000065427 7 OMIM: 601421 5 UniProtKB: Q15046 3 ORGUL members: NONCODE:n342492
Export aliases for KARS gene to outside databases Previous GC identifers: GC16M066591 GC16M076622 GC16M075400 GC16M075442 GC16M075443 GC16M074219 GC16M061415
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Summariesfor KARS gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for KARS : Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046 Function : Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid(AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation Gene Wiki entry for KARS
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Genomic Viewsfor KARS gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000016.9 NC_018927.1 NT_010498.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KARS gene promoter: Egr-3 AML1a Pax-5 Pax-2 Lmo2 Pax-2a HNF-4alpha1 YY1 Egr-4 Other transcription factors Search SABiosciences Chromatin IP Primers for KARS Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KARS
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16q23.1 Ensembl cytogenetic band: 16q23.1 HGNC cytogenetic band: 16q23.1 KARS Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M075661: view genomic region
(about GC identifiers )
Start:
75,661,622 bp from pter
End:
75,682,541 bp from pter
Size:
20,920 bases
Orientation:
minus strand
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Proteinsfor KARS gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046 (See
protein sequence )Recommended Name: Lysine--tRNA ligase Size : 597 amino acids; 68048 Da
Subunit : Homodimer; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp,Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with AIMP2 (via N-terminus) and MITF. Interacts directly with HIV-1 virus GAG protein
Subcellular location : Isoform Cytoplasmic: Cytoplasm. Nucleus. Cell membrane; Peripheral membrane protein. Secreted.Note=Secretion is induced by TNF-alpha
Subcellular location : Isoform Mitochondrial: Mitochondrion
Miscellaneous : Shares a bidirectional promoter with TERF2IP/RAP1 (PubMed:14659874)
Sequence caution : Sequence=BAA06688.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for KARS :3BJU (3D)
  4DPG (3D)
 
Secondary accessions : A8MSK1 D3DUK4 O14946 Q96J25 Q9HB23Alternative splicing : 2 isoforms : Q15046-1 Q15046-2 (Mitochondrial precursor. Contains a mitochondrial transit peptide at positions 1-16. Ref.2 (AAG30114) sequence is in conflict in position: 48:R->G)Explore the universe of human proteins at neXtProt for KARS: NX_Q15046 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q15046 4/17 DME Specific Peptides for KARS (Q15046 ) (see all 17 )KARS Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001123561.1 NP_005539.1 ENSEMBL proteins: ENSP00000325448 ENSP00000303043 ENSP00000454512 ENSP00000455818 ENSP00000456185 ENSP00000456786 ENSP00000455488 ENSP00000462057 ENSP00000458028 Reactome Protein details: Q15046 Human Recombinant Protein Products: Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10 ): About this table
KARS for ontologies About GeneDecksing KARS Antibody Products: Assay Products for KARS:
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Protein
Domains / Familiesfor KARS gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
KARS for domains About GeneDecksing 5/7 InterPro domains/families (see all 7 ):
Graphical View of Domain Structure for InterPro Entry Q15046 ProtoNet protein and cluster: Q15046
3 Blocks protein families : IPB002313 Lysyl-tRNA synthetase signature IPB004364 tRNA synthetase IPB004365 OB-fold nucleic acid binding domain UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046 Domain : The N-terminal domain (1-65) of the cytoplasmic isoform is a functional tRNA-binding domain (By similarity), isrequired for nuclear localization, is involved in the interaction with DARS, but has a repulsive role in the binding to EEF1A1. A central domain (208-259) is involved in homodimerization and is required for interaction with HIV-1 GAG and incorporation into virions. The C-terminal domain (452-597) is not required for interaction with AIMP2 Similarity : Belongs to the class-II aminoacyl-tRNA synthetase family
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Functionfor KARS gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046 Function : Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid(AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. When secreted, acts as a signaling molecule that induces immune response through the activation of monocyte/macrophages. Catalyzes the synthesis of diadenosine oligophosphate (Ap4A), a signaling molecule involved in the activation of MITF transcriptional activity. Interacts with HIV-1 virus GAG protein, facilitating the selective packaging of tRNA(3)(Lys), the primer for reverse transcription initiation Catalytic activity : ATP + L-lysine + tRNA(Lys) = AMP + diphosphate + L-lysyl-tRNA(Lys)Enzyme regulation : Up-regulated by DARS and EEF1A1, but not by AIMP2
Genatlas biochemistry entry for KARS : lysyl-tRNA synthetase,target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis Enzyme Numbers (IUBMB): EC 6.1.1.6 1 2 EC 6.1.1 2 Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KARS (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KARS (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): KARS (NM_005548 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KARS Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KARS
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KARS
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6 ): About this table
KARS for ontologies About GeneDecksing 3 GenomeRNAi human phenotypes for KARS :
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Pathways & Interactionsfor KARS gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 tRNA Aminoacylation 2 Translational Control 3 Generic Transcription Pathway
Pathway sources See GeneCards unified pathways Show all pathways 1
Cell Signaling Technology (CST) Pathway for KARS 4
Reactome Pathways for KARS 1
Kegg Pathway (Kegg details for KARS) :
KARS for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KARS STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/408 Interacting proteins for KARS (Q15046 2 , 3 ENSP00000325448 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 408 )About this table Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7 ): About this table
KARS for ontologies About GeneDecksing
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Drugs & Compoundsfor KARS gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
KARS for compounds About GeneDecksing Browse Tocris compounds for KARS 5 HMDB Compounds for KARS About this table 1 DrugBank Compound for KARS About this table 10/24 Novoseek chemical compound relationships for KARS gene (see all 24 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
trna(lys)
88
49
15183344 (5), 10387054 (4), 14722314 (4), 12941890 (3) (see all 5 )
aminoacyl-trna
85.1
9
12438642 (1), 12766171 (1), 18839981 (1), 19755181 (1) (see all 6 )
kainate
83.7
40
20472138 (2), 18400404 (2), 15549132 (2), 18955488 (2) (see all 31 )
trna
68
50
11706011 (6), 12766171 (5), 12417586 (4), 9278442 (3) (see all 11 )
atpa
65.8
1
18793656 (1)
trna(asp)
65.4
2
12766171 (1)
anticodon
65.2
9
10572184 (2), 11884398 (2), 12766171 (2), 17661445 (1) (see all 5 )
glutamate
58.1
30
10985352 (3), 18070252 (2), 16723532 (2), 15872094 (2) (see all 22 )
lysine
36.9
4
14747465 (1), 9278442 (1), 17158446 (1)
nmda
32.3
5
18070252 (1), 20472138 (1), 18789344 (1), 11773314 (1) (see all 5 )
Search CenterWatch for drugs/clinical trials and news about KARS / SYK
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Transcriptsfor KARS gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for KARS gene (2 alternative transcripts): NM_001130089.1 NM_005548.2 Unigene Cluster for KARS:
Lysyl-tRNA synthetase Hs.3100 [show with all ESTs ] Unigene Representative Sequence: NM_001130089 12 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000319410 (uc002fer.3 ) ENST00000302445 (uc002feq.3 ) ENST00000568378 ENST00000564578 ENST00000569298 ENST00000562875 ENST00000566560 (uc010cgz.3 uc010cha.1 )ENST00000566249 ENST00000566772 ENST00000568682 ENST00000570215 ENST00000565738 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KARS (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KARS (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 2 ): KARS (NM_005548 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KARS Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KARS
Additional cDNA sequence: AF285758.1 AK126584.1 AK309168.1 AK315687.1 BC004132.2 BC013246.1 D31890.1 D32053.1
20 DOTS entries : DT.119914 DT.100664559
DT.100697984 DT.100664561 DT.100664562 DT.95167502 DT.100865562 DT.120666383 DT.97861075 DT.100876632 DT.120666394 DT.120666406 DT.100641124 DT.92453824 DT.100664555 DT.100664566 DT.120666478 DT.120666497 DT.92453826 DT.92453829 24/756 AceView cDNA sequences (see all 756 ):
BM794146 CA446512 CA431473 BM475905 CD742935 BG761911 AA311010 CA445516 BU165572 BM770256 AI686978 AA599704 BM463353 BE796823 BQ006238 BM927632 AI369212 BM831284 BM678272 BU172471 AW664616 BE391317 BQ437399 CR593300 GeneLoc Exon Structure 5/16 Alternative Splicing Database (ASD) splice patterns (SP) for KARS (see all 16 ) About this scheme ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ SP1 :           -     -                                       SP2 :           -   -   -                                       SP3 :           -     -       -   -                               SP4 :           -   -                                         SP5 :                                                    
ExUns: 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c · 17d SP1 :         -             SP2 :         -             SP3 :                     SP4 :                     SP5 :                    
ECgene alternative splicing isoforms for KARS
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Expression for KARS gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section KARS expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AAACCCGAAG
About this image See KARS Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KARS SOURCE GeneReport for Unigene cluster: Hs.3100 SABiosciences Custom PCR Arrays for KARS Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KARSBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat KARS QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KARS QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KARS In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KARS
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Orthologsfor KARS gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the last universal common ancestor (LUCA).
Orthologs for KARS gene from 11/44 species (see all 44 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
mouse (Mus musculus)
Mammalia
Kars1 , 5
lysyl-tRNA synthetase1, 5
89.16(n) 1 92.31(a) 1
 
8 (58.27 cM) 5 85305 1 NM_001130868.1 1 NP_001124340.1 1 111993440 5
chicken (Gallus gallus)
Aves
KARS1
lysyl-tRNA synthetase
77.17(n) 84.59(a)
 
415885 NM_001030583.1 NP_001025754.1
lizard (Anolis carolinensis)
Reptilia
KARS6 DARS26
--
81(a) 13(a)
1 ↔ 1possible ortholog
AAWZ02038681(1154-9283) 4(71358462-71376290)
African clawed frog (Xenopus laevis)
Amphibia
BC046578.12
--
75.13(n)
 
BC046578.1
zebrafish (Danio rerio)
Actinopterygii
Dr.282092
Transcribed sequence with moderate similarity to protein more
79.2(n)
 
57053864
fruit fly (Drosophila melanogaster)
Insecta
CG121413 Aats-lys1
lysyl-tRNA aminoacylation lysine-tRNA ligase3 Lysyl-tRNA synthetase1
72(a) 3 64.32(n) 1 68.01(a) 1
 
8F13 31904 1 NM_001201642.1 1 NP_001188571.1 1
worm (Caenorhabditis elegans)
Secernentea
krs-13 kars-11
lysyl-tRNA synthetase3 Protein KARS-11
60(a) 3 60.31(n) 1 60.25(a) 1
 
II(7070323-7072321)3 174159 1 NM_063052.3 1 NP_495453.1 1
baker's yeast (Saccharomyces cerevisiae)
Saccharomycetes
KRS1(YDR037W)4 KRS11
Lysyl-tRNA synthetase4 Krs1p1
58.62(n) 1 59.03(a) 1
 
4(525440-527215) 4 851607 1, 4 NP_010322.1 1, 4
thale cress (Arabidopsis thaliana)
eudicotyledons
ATKRS-11
Lysyl-tRNA synthetase
60.04(n) 58.26(a)
 
820343 NM_112003.3 NP_187777.1
rice (Oryza sativa)
Liliopsida
AK099302.12
--
74.94(n)
 
AK099302.1
ENSEMBL Gene Tree for KARS (if available)TreeFam Gene Tree for KARS (if available)
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Paralogsfor KARS gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for KARS gene
KARS for paralogs About GeneDecksing 3 Pseudogenes.org Pseudogenes for KARS PGOHUM00000248573 PGOHUM00000248686 PGOHUM00000248914
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Genomic Variantsfor KARS gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for KARS (75661622 - 75682541 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for KARS: -- Human Gene Mutation Database (HGMD) : KARS SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KARS
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Disorders
/ Diseasesfor KARS gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
KARS for disorders About GeneDecksing OMIM gene information: 601421 OMIM disorders : 613641 UniProtKB/Swiss-Prot: SYK_HUMAN, Q15046
Defects in KARS are the cause of Charcot-Marie-Tooth disease recessive intermediate type B (CMTRIB) [MIM:613641]; also called Charcot-Marie-Tooth neuropathy recessive intermediate B. CMTRIB is a form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec 16 diseases for KARS : About MalaCards charcot-marie-tooth neuropathy polymyositis dermatomyositis temporal lobe epilepsy antisynthetase syndrome peripheral neuropathy microphthalmia appendicitis neuropathy myositis sarcoidosis immunodeficiency cholesterol neuroblastoma malaria neuronitis 2 Novoseek disease relationships for KARS gene About this table
Human Genome Epidemiology (HuGE) Navigator: KARS (4 documents) Export disorders for KARS gene to outside databases
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Publicationsfor KARS gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for KARS gene, integrated from 9 sources (see all 179 ): (articles sorted by number of sources associating them with KARS) Utopia : connect your pdf to the dynamic world of online information
Human lysyl-tRNA synthetase accepts nucleotide 73 variants and rescues Escherichia coli double-defective mutant. (PubMed id 9278442) 1 , 2 , 3, 9 Shiba K....Schimmel P. (1997) Cellular distribution of Lysyl-tRNA synthetase and its interaction with Gag during human immunodeficiency virus type 1 assembly. (PubMed id 15220430) 1 , 2 , 9 Halwani R....Kleiman L. (2004) The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly. (PubMed id 12756246) 1 , 2 , 9 Javanbakht H.... Kleiman L. (2003) Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation. (PubMed id 18272479) 1 , 2 , 9 Guo M.... Yang X.-L. (2008) Assignment of two human autoantigen genes-isoleucyl-tRNA synthetase locates to 9q21 and lysyl-tRNA synthetase locates to 16q23-q24. (PubMed id 8812440) 1 , 3, 9 Nichols R.C....Liu P. (1996) Macromolecular assemblage of aminoacyl-tRNA synthetases: identification of protein-protein interactions and characterization of a core protein. (PubMed id 9878398) 1 , 2 , 9 Quevillon S.... Mirande M. (1999) Compound heterozygosity for loss-of-function lysyl-tR NA synthetase mutations in a patient with peripheral neuropathy. (PubMed id 20920668) 1 , 2 McLaughlin H.M....Antonellis A. (2010) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) The human lysyl-tRNA synthetase gene encodes both the cytoplasmic and mitochondrial enzymes by means of an unusual alternative splicing of the primary transcript. (PubMed id 10952987) 1 , 2 Tolkunova E.... Davidson E. (2000) Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 7584044) 1 , 2 Nomura N....Tabata S. (1994)
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External Searches for KARS gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing KARS gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing KARS gene
(According to HUGE )
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Specialized Databases showing KARS gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for KARS Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for KARS gene: Search GeneIP for patents involving KARS GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor KARS gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
Browse OriGene Antibodies OriGene shRNA RFP for KARS OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for KARS OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for KARS OriGene Protein Over-expression Lysate for KARS Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for KARS OriGene 3'-UTR Clone for KARS OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for KARS OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for KARS Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for KARS OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for KARS OriGene Custom Protein Services for KARS OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KARS QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing KARS QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat KARS QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat KARS QIAGEN QuantiFast Probe-based Assays in human , mouse , rat KARS QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat KARS
Antibodies & Assays for KARS  
Search Tocris compounds for KARS
Recombinant Protein for KARS
KARS Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KARS
ThermoFisher Antibody for KARS
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat KARS
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