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This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010] See more...
Aliases for SARS1 Gene
Aliases for SARS1 Gene
External Ids for SARS1 Gene
- HGNC: 10537
- Entrez Gene: 6301
- Ensembl: ENSG00000031698
- OMIM: 607529
- UniProtKB: P49591
Previous HGNC Symbols for SARS1 Gene
- SARS
Summaries for SARS1 Gene
-
This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]
GeneCards Summary for SARS1 Gene
SARS1 (Seryl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with SARS1 include Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures and Arteriovenous Malformations Of The Brain. Among its related pathways are tRNA Aminoacylation and Viral mRNA Translation. An important paralog of this gene is ENSG00000269547.
UniProtKB/Swiss-Prot Summary for SARS1 Gene
-
Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:9431993, PubMed:26433229, PubMed:28236339). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (PubMed:9431993, PubMed:26433229, PubMed:28236339). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC (PubMed:24940000). Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFA (PubMed:19423848, PubMed:19423847, PubMed:24940000).
Additional gene information for SARS1 Gene
- HGNC(10537)
- Entrez Gene(6301)
- Ensembl(ENSG00000031698)
- OMIM(607529)
- UniProtKB(P49591)
- Open Targets Platform(ENSG00000031698)
- Monarch Initiative
- Search for SARS1 at DataMed
- Search for SARS1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SARS1 Gene
Genomics for SARS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SARS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SARS1
Genomic Locations for SARS1 Gene
Genomic Locations for SARS1 Gene
- chr1:109,213,893-109,238,182
- (GRCh38/hg38)
- Size:
- 24,290 bases
- Orientation:
- Plus strand
- chr1:109,756,515-109,780,804
- (GRCh37/hg19)
- Size:
- 24,290 bases
- Orientation:
- Plus strand
Genomic View for SARS1 Gene
Genes around SARS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p13.3 by HGNC
- 1p13.3 by Entrez Gene
- 1p13.3 by Ensembl
SARS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SARS1 Gene
Proteins for SARS1 Gene
-
Protein details for SARS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49591-SYSC_HUMAN
- Recommended name:
- Serine--tRNA ligase, cytoplasmic
- Protein Accession:
- P49591
- B2R6Y9
- Q5T5C8
- Q9NSE3
Protein attributes for SARS1 Gene
- Size:
- 514 amino acids
- Molecular mass:
- 58777 Da
- Quaternary structure:
-
- Homodimer (PubMed:22353712, PubMed:26433229). The tRNA molecule may bind across the dimer (PubMed:26433229). Interacts with SIRT2 (PubMed:24940000). Interacts with METTL6 (PubMed:28655767).
Selected DME Specific Peptides for SARS1 Gene
- P49591:
-
- LREIGNLLHPSVPIS
- AILENYQ
- VPEKLKEFMPPGLQELIPFVK
- DLEAWFP
- KKYSHVDLVVMVDGF
- HGRDTRG
- FVHMLNATMCATTR
- GIFRVHQF
- DTRGIFR
- YLIATSE
- LKVSQIKKVRLL
- DEAILKCDAERIKLEAERFE
- SNCTDYQ
- YTPFFMRKEVMQEVAQLSQFD
Post-translational modifications for SARS1 Gene
Other Protein References for SARS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SARS1
-
Abcam antibodies for SARS1
- Invitrogen Antibodies for SARS1 (AFLGC-SARS1)
- Sino Biological Antibodies for SARS1
Protein Products
-
OriGene Purified Proteins for SARS1
- Search Origene for MassSpec and Protein Over-expression Lysates for SARS1
- Origene Custom Protein Services for SARS1
- ProSpec Recombinant Proteins for SARS1
- antibodies-online: Show 3 available SARS Proteins ranked by validation data
- Compare Top SARS Proteins
-
Quality Products:
-
Abcam proteins for SARS1
Domains & Families for SARS1 Gene
Gene Families for SARS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for SARS1 Gene
- InterPro:
- Blocks:
-
- Seryl-tRNA SYNTHETASE signature
- ProtoNet:
Suggested Antigen Peptide Sequences for SARS1 Gene
- GenScript: Design optimal peptide antigens:
-
- SARS protein (Q0VGA5_HUMAN)
- Seryl-tRNA(Ser/Sec) synthetase (SYSC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P49591UniProtKB/Swiss-Prot:
SYSC_HUMAN :- Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.
- Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.
- Domain:
-
- Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.
- Family:
-
- Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.
Function for SARS1 Gene
Molecular function for SARS1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:9431993, PubMed:26433229, PubMed:28236339). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (PubMed:9431993, PubMed:26433229, PubMed:28236339). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC (PubMed:24940000). Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFA (PubMed:19423848, PubMed:19423847, PubMed:24940000).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-serine + tRNA(Ser) = AMP + diphosphate + H(+) + L-seryl-tRNA(Ser); Xref=Rhea:RHEA:12292, Rhea:RHEA-COMP:9669, Rhea:RHEA-COMP:9703, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:33384, ChEBI:CHEBI:78442, ChEBI:CHEBI:78533, ChEBI:CHEBI:456215; EC=6.1.1.11; Evidence={ECO:0000269|PubMed:22353712, ECO:0000269|PubMed:24095058, ECO:0000269|PubMed:26433229, ECO:0000269|PubMed:28236339, ECO:0000269|PubMed:9431993};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-serine + tRNA(Sec) = AMP + diphosphate + H(+) + L-seryl-tRNA(Sec); Xref=Rhea:RHEA:42580, Rhea:RHEA-COMP:9742, Rhea:RHEA-COMP:10128, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:33384, ChEBI:CHEBI:78442, ChEBI:CHEBI:78533, ChEBI:CHEBI:456215; EC=6.1.1.11; Evidence={ECO:0000269|PubMed:22353712, ECO:0000269|PubMed:24095058, ECO:0000269|PubMed:26433229, ECO:0000269|PubMed:28236339, ECO:0000269|PubMed:9431993};.
Enzyme Numbers (IUBMB) for SARS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000049 | tRNA binding | IBA | 21873635 |
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 24940000 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003723 | RNA binding | TAS | 9431993 |
Phenotypes for SARS1 Gene
- MGI mutant phenotypes for SARS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SARS1:
-
- no effect
- Decreased viability
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased shRNA abundance (Z-score < -2)
- shRNA abundance <= 25%
- Reduced mammosphere formation
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Increased shRNA abundance (Z-score > 2)
- Increased free cholesterol
Animal Models for SARS1 Gene
- MGI Knock Outs for SARS1:
-
- Sars Sars<tm1.1(KOMP)Vlcg>
Animal Model Products
-
Taconic Biosciences Mouse Models for SARS1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SARS1 - Select products 50% OFF >
- * SARS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SARS1
miRNA for SARS1 Gene
- miRTarBase miRNAs that target SARS1
-
- hsa-miR-30a-5p (MIRT028392)
- hsa-miR-16-5p (MIRT031410)
- hsa-miR-29a-3p (MIRT049980)
- hsa-miR-26a-5p (MIRT050183)
- hsa-miR-1207-5p (MIRT736055)
- hsa-miR-1237-5p (MIRT736320)
- hsa-miR-1245b-3p (MIRT736356)
- hsa-miR-1909-3p (MIRT738374)
- hsa-miR-4488 (MIRT745243)
- hsa-miR-4506 (MIRT745550)
- hsa-miR-4525 (MIRT745926)
- hsa-miR-4697-5p (MIRT747246)
- hsa-miR-4716-3p (MIRT747501)
- hsa-miR-4763-3p (MIRT748563)
- hsa-miR-4790-3p (MIRT748904)
- hsa-miR-486-3p (MIRT749128)
- hsa-miR-5010-5p (MIRT749508)
- hsa-miR-5187-5p (MIRT749861)
- hsa-miR-636 (MIRT752678)
- hsa-miR-6721-5p (MIRT753834)
- hsa-miR-6722-3p (MIRT753887)
- hsa-miR-6741-5p (MIRT754346)
- hsa-miR-6794-5p (MIRT756101)
- hsa-miR-6798-5p (MIRT756268)
- hsa-miR-6846-5p (MIRT757445)
- hsa-miR-6848-5p (MIRT757519)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SARS1
- Browse OriGene Inhibitory RNA Products For SARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SARS1
Clone Products
- Applied Biological Materials (abm): Clones for SARS1 - Select products 50% OFF >
- * SARS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SARS1
No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for SARS1 Gene
Localization for SARS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SARS1 Gene
- Cytoplasm. Nucleus. Note=Predominantly cytoplasmic, but a minor proportion is also found in the nucleus. {ECO:0000269 PubMed:22353712}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 28236339 |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0070062 | extracellular exosome | HDA | 20458337 |
Pathways & Interactions for SARS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Viral mRNA Translation | ||
| 3 | Gene Expression |
.48
|
|
| 4 | Metabolism |
.40
|
|
Pathways by source for SARS1 Gene
7 Reactome pathways for SARS1 Gene
1 KEGG pathway for SARS1 Gene
UniProtKB/Swiss-Prot P49591-SYSC_HUMAN
- Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; L-seryl-tRNA(Sec) from L-serine and tRNA(Sec): step 1/1.
Interacting Proteins for SARS1 Gene
GPS-Prot Interaction Network for SARS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 24940000 |
| GO:0006412 | translation | TAS | 9431993 |
| GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
| GO:0006434 | seryl-tRNA aminoacylation | IEA,IMP | 28236339 |
| GO:0008033 | tRNA processing | TAS | 9431993 |
Drugs & Compounds for SARS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phosphoric acid | Approved | Pharma | 0 | |||
| Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
| Serine | Investigational | Nutra | Agonist, Full agonist, Target | Weak endogenous glycine receptor agonist | 1156 | |
| ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for SARS1 Gene
mRNA/cDNA for SARS1 Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000234677 1914 nts (view in UCSC)
- ENST00000369923 1882 nts (view in UCSC)
- ENST00000468588 1582 nts (view in UCSC)
- ENST00000471705 851 nts (view in UCSC)
- ENST00000477544 694 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SARS1 - Select products 50% OFF >
- * SARS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SARS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SARS1
- Browse OriGene Inhibitory RNA Products For SARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SARS1
Clone Products
- Applied Biological Materials (abm): Clones for SARS1 - Select products 50% OFF >
- * SARS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SARS1
Relevant External Links for SARS1 Gene
- GeneLoc Exon Structure for
- SARS1
Expression for SARS1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SARS1
SOURCE GeneReport for Unigene cluster for SARS1 Gene:
Hs.531176mRNA Expression by UniProt/SwissProt for SARS1 Gene:
P49591-SYSC_HUMAN
Tissue specificity:
Brain.
Evidence on tissue expression from TISSUES for SARS1 Gene
- Nervous system(5)
- Liver(4.7)
- Lung(4.2)
- Skin(4.1)
- Intestine(3.8)
- Blood(3.6)
- Muscle(3.4)
- Eye(3.2)
- Kidney(3)
- Heart(2.9)
- Spleen(2.7)
- Thyroid gland(2.6)
- Stomach(2.4)
- Pancreas(2.4)
- Lymph node(2.2)
Primer Products
-
OriGene qPCR primer pairs for SARS1
-
OriGene qPCR primer pairs and template standards for SARS1
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SARS1 Gene
Orthologs for SARS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SARS 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SARS 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SARS 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SARS 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SARS 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sars 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sars 30 |
|
||
| Chicken (Gallus gallus) |
Aves | SARS 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SARS 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sars 30 |
|
||
| Str.657 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | sars-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sars 30 31 |
|
OneToOne | |
| Dr.29078 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG17259 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008265 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | sars-1 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A10593g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL088C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SES1 30 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G27470 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.311 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.9981 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0559100 30 |
|
||
| Os.5952 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.6290 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.20463 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.15927 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC29A4.15 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01443 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3798 30 |
|
- Species where no ortholog for SARS1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for SARS1 Gene
- ENSEMBL:
- Gene Tree for SARS1 (if available)
- TreeFam:
- Gene Tree for SARS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SARS1: view image
Paralogs for SARS1 Gene
Paralogs for SARS1 Gene
Variants for SARS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SARS1 Gene
| SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638324 | Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES | 109,235,412(+) | G/A | MISSENSE_VARIANT | |
| 711285 | Benign: not provided | 109,237,381(+) | T/C | INTRON_VARIANT | |
| 714605 | Likely Benign: not provided | 109,235,353(+) | G/T | SYNONYMOUS_VARIANT | |
| 721604 | Likely Benign: not provided | 109,236,048(+) | C/T | SYNONYMOUS_VARIANT | |
| 722047 | Likely Benign: not provided | 109,237,810(+) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1008458 | CNV | gain | 25217958 |
| nsv1012267 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.58;
30.44% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SARS1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SARS1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARS1 Gene
Disorders for SARS1 Gene
(9) MalaCards diseases for SARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neurodevelopmental disorder with microcephaly, ataxia, and seizures |
|
|
| arteriovenous malformations of the brain |
|
|
| autosomal recessive non-syndromic intellectual disability |
|
|
| inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 |
|
|
| anisometropia |
|
|
Search SARS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SYSC_HUMAN- Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709]: An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, seizures apparent in infancy, impaired speech, and aggressive behavior. Additional features include microcephaly, ataxia, and muscle weakness. {ECO:0000269 PubMed:28236339}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SARS1
No data available for Genatlas for SARS1 Gene
Publications for SARS1 Gene
- Genomic organization, cDNA sequence, bacterial expression, and purification of human seryl-tRNA synthase. (PMID: 9431993) Vincent C … Härtlein M (European journal of biochemistry 1997) 2 3 4 23
- Genetic evidence for a noncanonical function of seryl-tRNA synthetase in vascular development. (PMID: 19423847) Herzog W … Stainier DY (Circulation research 2009) 3 4 23
- Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. (PMID: 28236339) Musante L … Kuss AW (Human mutation 2017) 3 4
- SerRS-tRNASec complex structures reveal mechanism of the first step in selenocysteine biosynthesis. (PMID: 26433229) Wang C … Xie W (Nucleic acids research 2015) 3 4
- tRNA synthetase counteracts c-Myc to develop functional vasculature. (PMID: 24940000) Shi Y … Yang XL (eLife 2014) 3 4
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