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Q9NP81

- SYSM_HUMAN

UniProt

Q9NP81 - SYSM_HUMAN

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Protein
Serine--tRNA ligase, mitochondrial
Gene
SARS2, SARSM
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalyzes the attachment of serine to tRNA(Ser). Is 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) By similarity.

Catalytic activityi

ATP + L-serine + tRNA(Ser) = AMP + diphosphate + L-seryl-tRNA(Ser).
ATP + L-serine + tRNA(Sec) = AMP + diphosphate + L-seryl-tRNA(Sec).

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei345 – 3451ATP; via amide nitrogen and carbonyl oxygen By similarity
Binding sitei352 – 3521Serine By similarity
Binding sitei453 – 4531Serine By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi330 – 3323ATP By similarity
Nucleotide bindingi418 – 4214ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. poly(A) RNA binding Source: UniProtKB
  3. serine-tRNA ligase activity Source: UniProtKB

GO - Biological processi

  1. gene expression Source: Reactome
  2. selenocysteinyl-tRNA(Sec) biosynthetic process Source: UniProtKB-UniPathway
  3. seryl-tRNA aminoacylation Source: UniProtKB
  4. tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.1.1.11. 2681.
ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.
UniPathwayiUPA00906; 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:17697. SARS2.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. mitochondrial matrix Source: Reactome
  2. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Hyperuricemia pulmonary hypertension renal failure and alkalosis (HUPRA) [MIM:613845]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti390 – 3901D → G in HUPRA. 1 Publication
VAR_065820

Organism-specific databases

MIMi613845. phenotype.
Orphaneti363694. Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome.
PharmGKBiPA134899753.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3434Mitochondrion By similarity
Add
BLAST
Chaini35 – 518484Serine--tRNA ligase, mitochondrial
PRO_0000035822Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei110 – 1101N6-acetyllysine By similarity
Modified residuei195 – 1951N6-succinyllysine By similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ9NP81.
PRIDEiQ9NP81.

PTM databases

PhosphoSiteiQ9NP81.

Expressioni

Gene expression databases

BgeeiQ9NP81.
CleanExiHS_SARS2.
GenevestigatoriQ9NP81.

Organism-specific databases

HPAiHPA052730.
HPA056957.

Interactioni

Subunit structurei

Homodimer. The tRNA molecule binds across the dimer By similarity.

Protein-protein interaction databases

BioGridi120278. 19 interactions.
IntActiQ9NP81. 7 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ9NP81.
SMRiQ9NP81. Positions 39-507.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni299 – 3013Serine binding By similarity

Domaini

Consists of two distinct domains, a catalytic core and a N-terminal extension that is involved in tRNA binding By similarity.

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

HOGENOMiHOG000035937.
HOVERGENiHBG023869.
InParanoidiQ9NP81.
KOiK01875.
OMAiMGTDVIK.
OrthoDBiEOG7WMCJ5.
PhylomeDBiQ9NP81.

Family and domain databases

Gene3Di1.10.287.40. 1 hit.
InterProiIPR002314. aa-tRNA-synt_IIb_cons-dom.
IPR006195. aa-tRNA-synth_II.
IPR002317. Ser-tRNA-ligase_type_1.
IPR015866. Ser-tRNA-synth_1_N.
IPR010978. tRNA-bd_arm.
[Graphical view]
PANTHERiPTHR11778. PTHR11778. 1 hit.
PfamiPF00587. tRNA-synt_2b. 1 hit.
[Graphical view]
PIRSFiPIRSF001529. Ser-tRNA-synth_IIa. 1 hit.
PRINTSiPR00981. TRNASYNTHSER.
SUPFAMiSSF46589. SSF46589. 1 hit.
TIGRFAMsiTIGR00414. serS. 1 hit.
PROSITEiPS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NP81-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MAASMARRLW PLLTRRGFRP RGGCISNDSP RRSFTTEKRN RNLLYEYARE    50
GYSALPQLDI ERFCACPEEA AHALELRKGE LRSADLPAII STWQELRQLQ 100
EQIRSLEEEK AAVTEAVRAL LANQDSGEVQ QDPKYQGLRA RGREIRKELV 150
HLYPREAQLE EQFYLQALKL PNQTHPDVPV GDESQARVLH MVGDKPVFSF 200
QPRGHLEIGE KLDIIRQKRL SHVSGHRSYY LRGAGALLQH GLVNFTFNKL 250
LRRGFTPMTV PDLLRGAVFE GCGMTPNANP SQIYNIDPAR FKDLNLAGTA 300
EVGLAGYFMD HTVAFRDLPV RMVCSSTCYR AETNTGQEPR GLYRVHHFTK 350
VEMFGVTGPG LEQSSQLLEE FLSLQMEILT ELGLHFRVLD MPTQELGLPA 400
YRKFDIEAWM PGRGRFGEVT SASNCTDFQS RRLHIMFQTE AGELQFAHTV 450
NATACAVPRL LIALLESNQQ KDGSVLVPPA LQSYLGTDRI TAPTHVPLQY 500
IGPNQPRKPG LPGQPAVS 518
Length:518
Mass (Da):58,283
Last modified:October 1, 2000 - v1
Checksum:iC6516A9527B34EB7
GO
Isoform 2 (identifier: Q9NP81-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     132-155: DPKYQGLRARGREIRKELVHLYPR → VRLDPGAGSIFGPTFLPFPGQLSLLV

Note: No experimental confirmation available.

Show »
Length:520
Mass (Da):58,030
Checksum:i1CB28DA9FBFEED8D
GO

Sequence cautioni

The sequence AAH01020.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351T → A.
Corresponds to variant rs34264048 [ dbSNP | Ensembl ].
VAR_052645
Natural varianti83 – 831S → L.
Corresponds to variant rs34050897 [ dbSNP | Ensembl ].
VAR_052646
Natural varianti390 – 3901D → G in HUPRA. 1 Publication
VAR_065820

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei132 – 15524DPKYQ…HLYPR → VRLDPGAGSIFGPTFLPFPG QLSLLV in isoform 2.
VSP_043020Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSiCCDS33017.1. [Q9NP81-1]
CCDS54265.1. [Q9NP81-2]
RefSeqiNP_001139373.1. NM_001145901.1. [Q9NP81-2]
NP_060297.1. NM_017827.3. [Q9NP81-1]
UniGeneiHs.709416.

Genome annotation databases

EnsembliENST00000221431; ENSP00000221431; ENSG00000104835. [Q9NP81-1]
ENST00000600042; ENSP00000472847; ENSG00000104835. [Q9NP81-2]
GeneIDi54938.
KEGGihsa:54938.
UCSCiuc002ojz.2. human. [Q9NP81-1]
uc010xup.1. human. [Q9NP81-2]

Polymorphism databases

DMDMi23822219.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.709416.

3D structure databases

ProteinModelPortali Q9NP81.
SMRi Q9NP81. Positions 39-507.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120278. 19 interactions.
IntActi Q9NP81. 7 interactions.

PTM databases

PhosphoSitei Q9NP81.

Polymorphism databases

DMDMi 23822219.

Proteomic databases

MaxQBi Q9NP81.
PRIDEi Q9NP81.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000221431 ; ENSP00000221431 ; ENSG00000104835 . [Q9NP81-1 ]
ENST00000600042 ; ENSP00000472847 ; ENSG00000104835 . [Q9NP81-2 ]
GeneIDi 54938.
KEGGi hsa:54938.
UCSCi uc002ojz.2. human. [Q9NP81-1 ]
uc010xup.1. human. [Q9NP81-2 ]

Organism-specific databases

CTDi 54938.
GeneCardsi GC19M039405.
HGNCi HGNC:17697. SARS2.
HPAi HPA052730.
HPA056957.
MIMi 612804. gene.
613845. phenotype.
neXtProti NX_Q9NP81.
Orphaneti 363694. Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome.
PharmGKBi PA134899753.
GenAtlasi Search...

Phylogenomic databases

HOGENOMi HOG000035937.
HOVERGENi HBG023869.
InParanoidi Q9NP81.
KOi K01875.
OMAi MGTDVIK.
OrthoDBi EOG7WMCJ5.
PhylomeDBi Q9NP81.

Enzyme and pathway databases

UniPathwayi UPA00906 ; UER00895 .
BRENDAi 6.1.1.11. 2681.
Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

ChiTaRSi SARS2. human.
GeneWikii SARS2.
GenomeRNAii 54938.
NextBioi 58062.
PROi Q9NP81.
SOURCEi Search...

Gene expression databases

Bgeei Q9NP81.
CleanExi HS_SARS2.
Genevestigatori Q9NP81.

Family and domain databases

Gene3Di 1.10.287.40. 1 hit.
InterProi IPR002314. aa-tRNA-synt_IIb_cons-dom.
IPR006195. aa-tRNA-synth_II.
IPR002317. Ser-tRNA-ligase_type_1.
IPR015866. Ser-tRNA-synth_1_N.
IPR010978. tRNA-bd_arm.
[Graphical view ]
PANTHERi PTHR11778. PTHR11778. 1 hit.
Pfami PF00587. tRNA-synt_2b. 1 hit.
[Graphical view ]
PIRSFi PIRSF001529. Ser-tRNA-synth_IIa. 1 hit.
PRINTSi PR00981. TRNASYNTHSER.
SUPFAMi SSF46589. SSF46589. 1 hit.
TIGRFAMsi TIGR00414. serS. 1 hit.
PROSITEi PS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization and tRNA recognition of mammalian mitochondrial seryl-tRNA synthetase."
    Yokogawa T., Shimada N., Takeuchi N., Benkowski L., Suzuki T., Omori A., Ueda T., Nishikawa K., Spremulli L.L., Watanabe K.
    J. Biol. Chem. 275:19913-19920(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
  3. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain and Eye.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome."
    Belostotsky R., Ben-Shalom E., Rinat C., Becker-Cohen R., Feinstein S., Zeligson S., Segel R., Elpeleg O., Nassar S., Frishberg Y.
    Am. J. Hum. Genet. 88:193-200(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HUPRA GLY-390.

Entry informationi

Entry nameiSYSM_HUMAN
AccessioniPrimary (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: September 3, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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