SARS1 (seryl-tRNA synthetase 1)

Gene

• Entrez ID: 6301
• Gene name: Seryl-tRNA synthetase 1
• Gene symbol: SARS1
• Synonyms (NCBI Gene): NEDMAS, SARS, SERRS, SERS
• Chromosome: 1
• Chromosome location: 1p13.3
• Summary: 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 th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553178049	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1553178399	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	24940000
GO:0000166	Function	Nucleotide binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24940000
GO:0001514	Process	Selenocysteine incorporation	IMP	34570399
GO:0002181	Process	Cytoplasmic translation	IBA
GO:0002181	Process	Cytoplasmic translation	IMP	36041817
GO:0003677	Function	DNA binding	IEA
GO:0004812	Function	Aminoacyl-tRNA ligase activity	IEA
GO:0004828	Function	Serine-tRNA ligase activity	IBA
GO:0004828	Function	Serine-tRNA ligase activity	IDA	24095058
GO:0004828	Function	Serine-tRNA ligase activity	IEA
GO:0004828	Function	Serine-tRNA ligase activity	IMP	34570399, 36041817
GO:0004828	Function	Serine-tRNA ligase activity	TAS	9431993
GO:0005515	Function	Protein binding	IPI	26433229, 32814053, 34268557
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	34570399, 36041817
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	28236339
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	34570399, 36041817
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	IDA	34268557
GO:0006400	Process	TRNA modification	IDA	34268557
GO:0006412	Process	Translation	IEA
GO:0006412	Process	Translation	TAS	9431993
GO:0006418	Process	TRNA aminoacylation for protein translation	IEA
GO:0006434	Process	Seryl-tRNA aminoacylation	IBA
GO:0006434	Process	Seryl-tRNA aminoacylation	IDA	24095058, 36041817
GO:0006434	Process	Seryl-tRNA aminoacylation	IEA
GO:0006434	Process	Seryl-tRNA aminoacylation	IMP	28236339, 34570399
GO:0016525	Process	Negative regulation of angiogenesis	IEA
GO:0016525	Process	Negative regulation of angiogenesis	IMP	24940000
GO:0016874	Function	Ligase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	28655767
GO:0042803	Function	Protein homodimerization activity	IPI	26433229
GO:0060090	Function	Molecular adaptor activity	IDA	34268557
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0098619	Function	Selenocysteine-tRNA ligase activity	IMP	34570399
GO:1904046	Process	Negative regulation of vascular endothelial growth factor production	IDA	24940000
GO:1904046	Process	Negative regulation of vascular endothelial growth factor production	IEA

Other IDs

• MIM: 607529
• HGNC: 10537
• e!Ensembl: ENSG00000031698

Protein

• UniProt ID: P49591
• Protein name: Serine--tRNA ligase, cytoplasmic (EC 6.1.1.11) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)
• Protein 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:26433229, PubMed:28236339, P
• PDB: 3VBB, 4L87, 4RQE, 4RQF, 8P7B, 8P7C, 8P7D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02403	Seryl_tRNA_N	2 → 113	Seryl-tRNA synthetase N-terminal domain	Domain
  PF00587	tRNA-synt_2b	248 → 444	tRNA synthetase class II core domain (G, H, P, S and T)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain. {ECO:0000269|PubMed:28236339}.
• Sequence:

  MVLDLDLFRVDKGGDPALIRETQEKRFKDPGLVDQLVKADSEWRRCRFRADNLNKLKNLC
  SKTIGEKMKKKEPVGDDESVPENVLSFDDLTADALANLKVSQIKKVRLLIDEAILKCDAE
  RIKLEAERFENLREIGNLLHPSVPISNDEDVDNKVERIWGDCTVRKKYSHVDLVVMVDGF
  EGEKGAVVAGSRGYFLKGVLVFLEQALIQYALRTLGSRGYIPIYTPFFMRKEVMQEVAQL
  SQFDEELYKVIGKGSEKSDDNSYDEKYLIATSEQPIAALHRDEWLRPEDLPIKYAGLSTC
  FRQEVGSHGRDTRGIFRVHQFEKIEQFVYSSPHDNKSWEMFEEMITTAEEFYQSLGIPYH
  IVNIVSGSLNHAASKKLDLEAWFPGSGAFRELVSCSNCTDYQARRLRIRYGQTKKMMDKV
  EFVHMLNATMCATTRTICAILENYQTEKGITVPEKLKEFMPPGLQELIPFVKPAPIEQEP
  SKKQKKQHEGSKKKAAARDVTLENRLQNMEVTDA

• Sequence length: 514

Pathways

KEGG:

Aminoacyl-tRNA biosynthesis

Reactome:

Selenocysteine synthesis
Cytosolic tRNA aminoacylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cerebral arteriovenous malformation	Pathogenic	rs1553178399	RCV000656325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTERIOVENOUS MALFORMATIONS, CEREBRAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder with microcephaly, ataxia, and seizures	no classifications from unflagged records; Benign; Uncertain significance	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARS1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30985968		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36041817	Associate	★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16833124, 27991632		★☆☆☆☆ Found in Text Mining only
Bronchitis	Bronchitis	BEFREE	17913799		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27714088, 30353718, 31050289		★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30764779		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15858003, 16571117		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	23202125		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36041817	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18727488		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	16103185, 24129118		★☆☆☆☆ Found in Text Mining only
ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION	Encephalitis/Encephalopathy With Reversible Myelin Vacuolization	BEFREE	29064679		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	17913799		★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	21255763	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	21255763	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28236339		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36041817	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15163706		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	15163706		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19685004, 24362959, 27082314		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16833124, 27991632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30238748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27714088, 30353718, 31050289		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30745282		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21559002, 29901677		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27714088, 28079954, 30141616		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31766690		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	36041817	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37587064	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18727488		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17258782, 31462377, 31617008		★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES	Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures	UNIPROT_DG	28236339		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neutrophilia (disorder)	Neutrophilia	BEFREE	30301856		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30745282		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	36041817	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	21559002, 29901677		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	19420084		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30288519		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	23486063, 24027335, 24198408, 25609816, 30301856		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	15381116, 19420084, 24217413		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	18495771		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	22072787, 23486063, 24027335, 24198408, 25609816, 30301856		★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	12791172, 14519257, 14652014, 15004042, 15010527, 15030703, 15031027, 15070991, 15131154, 15131168, 15163419, 15163706, 15194496, 15200810, 15306391, 15319863, 15324540, 15347429, 15358143, 15497005, 15596135, 15671749, 15735160, 15757556, 15757562, 15857975, 15858003, 15937940, 15963240, 15964082, 15999208, 16038039, 16101351, 16103185, 16185324, 16229772, 16289934, 16306591, 16310778, 16339739, 16442106, 16522785, 16553810, 16571117, 16893997, 16941348, 17039827, 17041212, 17108030, 17112780, 17161858, 17258782, 17397959, 17518614, 17665998, 17686858, 17705188, 17913799, 17928347, 18045721, 18178835, 18227861, 18448520, 18448527, 18480090, 18495771, 18533276, 18561946, 18579604, 18697825, 18801550, 19109397, 19112100, 19210229, 19264783, 19297479, 19420084, 19423547, 19439480, 19561398, 19590927, 19685004, 19892230, 20090954, 20168090, 20478047, 20573835, 20844028, 20980507, 21525212, 21763784, 21904596, 22291007, 22301153, 22334738, 22718567, 22995576, 23552422, 23966862, 23994189, 24027335, 24149513, 24172901, 24198408, 24217413, 24362959, 24478444, 24503068, 24585737, 24854014, 24882413, 25056892, 25074927, 25116391, 25520500, 25547683, 25609816, 25720466, 26041291, 26085159, 26184451, 26206723, 26320399, 26607834, 26634531, 26689940, 26958908, 27519799, 27644155, 27712626, 27974570, 28003490, 28216251, 28438633, 28831119, 28930535, 29186061, 29237834, 29289665, 29294448, 29331670, 29557770, 29789363, 30185776, 30189613, 30301856, 30356097, 30426315, 30531947, 30626688, 30646565, 30735813, 30830861, 30849247, 30925168, 30985968, 31034780, 31199522, 31350335, 31522710, 31841728		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	15163706		★☆☆☆☆ Found in Text Mining only