Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6301
Gene name	Seryl-tRNA synthetase 1
Gene symbol	SARS1
Synonyms (NCBI Gene)	NEDMASSARSSERRSSERS
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

Show/Hide all (2)

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

Show/Hide all (42)

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

MIM	HGNC	e!Ensembl
607529	10537	ENSG00000031698

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

Interactions

View interactions

	KEGG		Reactome
	Aminoacyl-tRNA biosynthesis		Selenocysteine synthesis Cytosolic tRNA aminoacylation

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral arteriovenous malformation	Pathogenic	rs1553178399	RCV000656325

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs61751058	RCV005903248
Cholangiocarcinoma	Benign	rs61751058	RCV005903254
Clear cell carcinoma of kidney	Benign	rs61751058	RCV005903249
Colon adenocarcinoma	Benign	rs61751058	RCV005903245
Hepatocellular carcinoma	Benign	rs61751058	RCV005903246
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome	Benign; Likely benign	rs140717526, rs74854256	RCV002502956 RCV002501400
Lung cancer	Benign	rs61751058	RCV005903255
Neurodevelopmental disorder with microcephaly, ataxia, and seizures	no classifications from unflagged records; Benign; Uncertain significance	rs539161490, rs683182, rs658092, rs2526364996, rs750961565, rs1167910316, rs1655314337, rs772315632, rs1553178049, rs1412278011	RCV001578620 RCV001794925 RCV001794926 RCV003223376 RCV003223377 RCV003236615 RCV005860400 RCV005860408 RCV000509080 RCV000790940
Nonpapillary renal cell carcinoma	Benign	rs61751058	RCV005903247
Ovarian serous cystadenocarcinoma	Benign	rs61751058	RCV005903251
Sarcoma	Benign	rs61751058	RCV005903250
SARS1-related disorder	Uncertain significance; Likely benign	rs2526365201, rs1655314337, rs370156901, rs772315632, rs145465105	RCV003388172 RCV004534454 RCV004540953 RCV004544186 RCV004530940
See cases	Uncertain significance	rs2101176763	RCV002252873
Thymoma	Benign	rs61751058	RCV005903252
Thyroid cancer, nonmedullary, 1	Benign	rs61751058	RCV005903253
Uterine corpus endometrial carcinoma	Benign	rs61751058	RCV005903256

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alkalosis	Associate	21255763
Ataxia	Associate	36041817
Developmental Disabilities	Associate	36041817
Hypertension Pulmonary	Associate	21255763
Hyperuricemia	Associate	21255763
Intellectual Disability	Associate	36041817
Microcephaly	Associate	36041817
Monoclonal Gammopathy of Undetermined Significance	Associate	37587064
Multiple Myeloma	Associate	37587064
Neoplasms	Associate	37587064
Paraplegia	Associate	36041817
Renal Insufficiency	Associate	21255763
Spastic Paraplegia Type 4	Associate	36056923

SARS1 (seryl-tRNA synthetase 1)