UniProtKB - Q9NP81 (SYSM_HUMAN)
Protein
Serine--tRNA ligase, mitochondrial
Gene
SARS2
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes the attachment of serine to tRNA(Ser). Is also probably 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).By similarity
Catalytic activityi
: selenocysteinyl-tRNA(Sec) biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes L-seryl-tRNA(Sec) from L-serine and tRNA(Sec).Proteins known to be involved in this subpathway in this organism are:
- Seryl-tRNA synthetase (SARS), Seryl-tRNA synthetase, Seryl-tRNA synthetase (SARS2), Seryl-tRNA synthetase (SARS1), Serine--tRNA ligase, cytoplasmic (SARS1), Serine--tRNA ligase, mitochondrial (SARS2), Seryl-tRNA synthetase, Seryl-tRNA synthetase (SARS2), Seryl-tRNA synthetase, Seryl-tRNA synthetase (SARS2), Seryl-tRNA synthetase (SARS2)
View all proteins of this organism that are known to be involved in the subpathway that synthesizes L-seryl-tRNA(Sec) from L-serine and tRNA(Sec), the pathway selenocysteinyl-tRNA(Sec) biosynthesis and in Aminoacyl-tRNA biosynthesis.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 345 | ATP; via amide nitrogen and carbonyl oxygenBy similarity | 1 | |
Binding sitei | 352 | L-serineBy similarity | 1 | |
Binding sitei | 453 | L-serineBy similarity | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 330 – 332 | ATPBy similarity | 3 | |
Nucleotide bindingi | 418 – 421 | ATPBy similarity | 4 |
GO - Molecular functioni
- ATP binding Source: UniProtKB
- RNA binding Source: UniProtKB
- serine-tRNA ligase activity Source: UniProtKB
- tRNA binding Source: GO_Central
GO - Biological processi
- mitochondrial seryl-tRNA aminoacylation Source: GO_Central
- selenocysteinyl-tRNA(Sec) biosynthetic process Source: UniProtKB-UniPathway
- seryl-tRNA aminoacylation Source: UniProtKB
- tRNA aminoacylation for protein translation Source: Reactome
Keywordsi
Molecular function | Aminoacyl-tRNA synthetase, Ligase |
Biological process | Protein biosynthesis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 6.1.1.11, 2681 |
PathwayCommonsi | Q9NP81 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
UniPathwayi | UPA00906;UER00895 |
Names & Taxonomyi
Protein namesi | Recommended name: Serine--tRNA ligase, mitochondrial (EC:6.1.1.11)Alternative name(s): SerRSmt Seryl-tRNA synthetase Short name: SerRS Seryl-tRNA(Ser/Sec) synthetase |
Gene namesi | Name:SARS2 Synonyms:SARSM |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17697, SARS2 |
MIMi | 612804, gene |
neXtProti | NX_Q9NP81 |
VEuPathDBi | HostDB:ENSG00000104835.14 |
Subcellular locationi
Mitochondrion
- Mitochondrion matrix By similarity
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065820 | 390 | D → G in HUPRAS. 1 PublicationCorresponds to variant dbSNP:rs727502784EnsemblClinVar. | 1 |
Organism-specific databases
DisGeNETi | 54938 |
MalaCardsi | SARS2 |
MIMi | 613845, phenotype |
OpenTargetsi | ENSG00000104835 |
Orphaneti | 363694, Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
PharmGKBi | PA134899753 |
Miscellaneous databases
Pharosi | Q9NP81, Tbio |
Genetic variation databases
BioMutai | SARS2 |
DMDMi | 23822219 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 34 | MitochondrionBy similarityAdd BLAST | 34 | |
ChainiPRO_0000035822 | 35 – 518 | Serine--tRNA ligase, mitochondrialAdd BLAST | 484 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 110 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 195 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q9NP81 |
jPOSTi | Q9NP81 |
MassIVEi | Q9NP81 |
MaxQBi | Q9NP81 |
PaxDbi | Q9NP81 |
PeptideAtlasi | Q9NP81 |
PRIDEi | Q9NP81 |
ProteomicsDBi | 81925 [Q9NP81-1] 81926 [Q9NP81-2] |
PTM databases
iPTMneti | Q9NP81 |
PhosphoSitePlusi | Q9NP81 |
Expressioni
Gene expression databases
Bgeei | ENSG00000104835, Expressed in adult mammalian kidney and 112 other tissues |
ExpressionAtlasi | Q9NP81, baseline and differential |
Genevisiblei | Q9NP81, HS |
Organism-specific databases
HPAi | ENSG00000104835, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer. The tRNA molecule probably binds across the dimer.
By similarityBinary interactionsi
Q9NP81
With | #Exp. | IntAct |
---|---|---|
NTAQ1 [Q96HA8] | 3 | EBI-1049768,EBI-741158 |
Protein-protein interaction databases
BioGRIDi | 120278, 60 interactors |
IntActi | Q9NP81, 29 interactors |
MINTi | Q9NP81 |
STRINGi | 9606.ENSP00000472847 |
Miscellaneous databases
RNActi | Q9NP81, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 299 – 301 | L-serine bindingBy similarity | 3 |
Domaini
Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding.By similarity
Sequence similaritiesi
Belongs to the class-II aminoacyl-tRNA synthetase family. Type-1 seryl-tRNA synthetase subfamily.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2509, Eukaryota |
GeneTreei | ENSGT00940000153792 |
HOGENOMi | CLU_023797_4_1_1 |
InParanoidi | Q9NP81 |
OMAi | SMCTDYQ |
OrthoDBi | 726296at2759 |
PhylomeDBi | Q9NP81 |
Family and domain databases
CDDi | cd00770, SerRS_core, 1 hit |
Gene3Di | 1.10.287.40, 1 hit |
InterProi | View protein in InterPro IPR002314, aa-tRNA-synt_IIb IPR006195, aa-tRNA-synth_II IPR002317, Ser-tRNA-ligase_type_1 IPR042103, SerRS_1_N_sf IPR033729, SerRS_core IPR010978, tRNA-bd_arm |
PANTHERi | PTHR11778, PTHR11778, 1 hit |
Pfami | View protein in Pfam PF00587, tRNA-synt_2b, 1 hit |
PIRSFi | PIRSF001529, Ser-tRNA-synth_IIa, 1 hit |
PRINTSi | PR00981, TRNASYNTHSER |
SUPFAMi | SSF46589, SSF46589, 1 hit |
TIGRFAMsi | TIGR00414, serS, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9NP81-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAASMARRLW PLLTRRGFRP RGGCISNDSP RRSFTTEKRN RNLLYEYARE
60 70 80 90 100
GYSALPQLDI ERFCACPEEA AHALELRKGE LRSADLPAII STWQELRQLQ
110 120 130 140 150
EQIRSLEEEK AAVTEAVRAL LANQDSGEVQ QDPKYQGLRA RGREIRKELV
160 170 180 190 200
HLYPREAQLE EQFYLQALKL PNQTHPDVPV GDESQARVLH MVGDKPVFSF
210 220 230 240 250
QPRGHLEIGE KLDIIRQKRL SHVSGHRSYY LRGAGALLQH GLVNFTFNKL
260 270 280 290 300
LRRGFTPMTV PDLLRGAVFE GCGMTPNANP SQIYNIDPAR FKDLNLAGTA
310 320 330 340 350
EVGLAGYFMD HTVAFRDLPV RMVCSSTCYR AETNTGQEPR GLYRVHHFTK
360 370 380 390 400
VEMFGVTGPG LEQSSQLLEE FLSLQMEILT ELGLHFRVLD MPTQELGLPA
410 420 430 440 450
YRKFDIEAWM PGRGRFGEVT SASNCTDFQS RRLHIMFQTE AGELQFAHTV
460 470 480 490 500
NATACAVPRL LIALLESNQQ KDGSVLVPPA LQSYLGTDRI TAPTHVPLQY
510
IGPNQPRKPG LPGQPAVS
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketM0QWZ7 | M0QWZ7_HUMAN | Seryl-tRNA synthetase | SARS2 hCG_20526 | 518 | Annotation score: | ||
M0R259 | M0R259_HUMAN | Seryl-tRNA synthetase | SARS2 | 328 | Annotation score: | ||
M0QX29 | M0QX29_HUMAN | Seryl-tRNA synthetase | SARS2 | 187 | Annotation score: | ||
B4DJM9 | B4DJM9_HUMAN | Serine--tRNA ligase, mitochondrial | SARS2 | 236 | Annotation score: | ||
M0R2H5 | M0R2H5_HUMAN | Serine--tRNA ligase, mitochondrial | SARS2 | 135 | Annotation score: | ||
M0R1C0 | M0R1C0_HUMAN | Serine--tRNA ligase, mitochondrial | SARS2 | 90 | Annotation score: |
Sequence cautioni
The sequence AAH01020 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052645 | 35 | T → A. Corresponds to variant dbSNP:rs34264048EnsemblClinVar. | 1 | |
Natural variantiVAR_052646 | 83 | S → L. Corresponds to variant dbSNP:rs34050897EnsemblClinVar. | 1 | |
Natural variantiVAR_065820 | 390 | D → G in HUPRAS. 1 PublicationCorresponds to variant dbSNP:rs727502784EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043020 | 132 – 155 | DPKYQ…HLYPR → VRLDPGAGSIFGPTFLPFPG QLSLLV in isoform 2. 1 PublicationAdd BLAST | 24 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB029948 mRNA Translation: BAA99557.1 AK000457 mRNA Translation: BAA91176.1 AK293414 mRNA Translation: BAG56921.1 AC011455 Genomic DNA No translation available. BC001020 mRNA Translation: AAH01020.2 Different initiation. BC042912 mRNA Translation: AAH42912.1 |
CCDSi | CCDS33017.1 [Q9NP81-1] CCDS54265.1 [Q9NP81-2] |
RefSeqi | NP_001139373.1, NM_001145901.1 [Q9NP81-2] NP_060297.1, NM_017827.3 [Q9NP81-1] |
Genome annotation databases
Ensembli | ENST00000221431; ENSP00000221431; ENSG00000104835 [Q9NP81-1] ENST00000600042; ENSP00000472847; ENSG00000104835 [Q9NP81-2] ENST00000634687; ENSP00000489539; ENSG00000283104 [Q9NP81-1] ENST00000635245; ENSP00000489453; ENSG00000283104 [Q9NP81-2] |
GeneIDi | 54938 |
KEGGi | hsa:54938 |
UCSCi | uc002oka.3, human [Q9NP81-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB029948 mRNA Translation: BAA99557.1 AK000457 mRNA Translation: BAA91176.1 AK293414 mRNA Translation: BAG56921.1 AC011455 Genomic DNA No translation available. BC001020 mRNA Translation: AAH01020.2 Different initiation. BC042912 mRNA Translation: AAH42912.1 |
CCDSi | CCDS33017.1 [Q9NP81-1] CCDS54265.1 [Q9NP81-2] |
RefSeqi | NP_001139373.1, NM_001145901.1 [Q9NP81-2] NP_060297.1, NM_017827.3 [Q9NP81-1] |
3D structure databases
SMRi | Q9NP81 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120278, 60 interactors |
IntActi | Q9NP81, 29 interactors |
MINTi | Q9NP81 |
STRINGi | 9606.ENSP00000472847 |
PTM databases
iPTMneti | Q9NP81 |
PhosphoSitePlusi | Q9NP81 |
Genetic variation databases
BioMutai | SARS2 |
DMDMi | 23822219 |
Proteomic databases
EPDi | Q9NP81 |
jPOSTi | Q9NP81 |
MassIVEi | Q9NP81 |
MaxQBi | Q9NP81 |
PaxDbi | Q9NP81 |
PeptideAtlasi | Q9NP81 |
PRIDEi | Q9NP81 |
ProteomicsDBi | 81925 [Q9NP81-1] 81926 [Q9NP81-2] |
Protocols and materials databases
Antibodypediai | 30224, 132 antibodies |
Genome annotation databases
Ensembli | ENST00000221431; ENSP00000221431; ENSG00000104835 [Q9NP81-1] ENST00000600042; ENSP00000472847; ENSG00000104835 [Q9NP81-2] ENST00000634687; ENSP00000489539; ENSG00000283104 [Q9NP81-1] ENST00000635245; ENSP00000489453; ENSG00000283104 [Q9NP81-2] |
GeneIDi | 54938 |
KEGGi | hsa:54938 |
UCSCi | uc002oka.3, human [Q9NP81-1] |
Organism-specific databases
CTDi | 54938 |
DisGeNETi | 54938 |
GeneCardsi | SARS2 |
HGNCi | HGNC:17697, SARS2 |
HPAi | ENSG00000104835, Low tissue specificity |
MalaCardsi | SARS2 |
MIMi | 612804, gene 613845, phenotype |
neXtProti | NX_Q9NP81 |
OpenTargetsi | ENSG00000104835 |
Orphaneti | 363694, Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome |
PharmGKBi | PA134899753 |
VEuPathDBi | HostDB:ENSG00000104835.14 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2509, Eukaryota |
GeneTreei | ENSGT00940000153792 |
HOGENOMi | CLU_023797_4_1_1 |
InParanoidi | Q9NP81 |
OMAi | SMCTDYQ |
OrthoDBi | 726296at2759 |
PhylomeDBi | Q9NP81 |
Enzyme and pathway databases
UniPathwayi | UPA00906;UER00895 |
BRENDAi | 6.1.1.11, 2681 |
PathwayCommonsi | Q9NP81 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation |
Miscellaneous databases
BioGRID-ORCSi | 54938, 432 hits in 989 CRISPR screens |
ChiTaRSi | SARS2, human |
GeneWikii | SARS2 |
GenomeRNAii | 54938 |
Pharosi | Q9NP81, Tbio |
PROi | PR:Q9NP81 |
RNActi | Q9NP81, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000104835, Expressed in adult mammalian kidney and 112 other tissues |
ExpressionAtlasi | Q9NP81, baseline and differential |
Genevisiblei | Q9NP81, HS |
Family and domain databases
CDDi | cd00770, SerRS_core, 1 hit |
Gene3Di | 1.10.287.40, 1 hit |
InterProi | View protein in InterPro IPR002314, aa-tRNA-synt_IIb IPR006195, aa-tRNA-synth_II IPR002317, Ser-tRNA-ligase_type_1 IPR042103, SerRS_1_N_sf IPR033729, SerRS_core IPR010978, tRNA-bd_arm |
PANTHERi | PTHR11778, PTHR11778, 1 hit |
Pfami | View protein in Pfam PF00587, tRNA-synt_2b, 1 hit |
PIRSFi | PIRSF001529, Ser-tRNA-synth_IIa, 1 hit |
PRINTSi | PR00981, TRNASYNTHSER |
SUPFAMi | SSF46589, SSF46589, 1 hit |
TIGRFAMsi | TIGR00414, serS, 1 hit |
PROSITEi | View protein in PROSITE PS50862, AA_TRNA_LIGASE_II, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SYSM_HUMAN | |
Accessioni | Q9NP81Primary (citable) accession number: Q9NP81 Secondary accession number(s): A6NHW7, B4DE10, Q9BVP3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2002 |
Last sequence update: | October 1, 2000 | |
Last modified: | April 7, 2021 | |
This is version 181 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Aminoacyl-tRNA synthetases
List of aminoacyl-tRNA synthetase entries - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families