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SARS2 seryl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 54938, updated on 23-Nov-2021

Summary

Official Symbol
SARS2provided by HGNC
Official Full Name
seryl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:17697
See related
Ensembl:ENSG00000104835 MIM:612804
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SYS; SARS; SERS; SARSM; SerRS; SerRSmt; mtSerRS
Summary
This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
Expression
Ubiquitous expression in thyroid (RPKM 6.7), placenta (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

See SARS2 in Genome Data Viewer
Location:
19q13.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (38915266..38930763, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39405906..39421403, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sirtuin 2 Neighboring gene NFKB inhibitor beta Neighboring gene coiled-coil glutamate rich protein 2 Neighboring gene mitochondrial ribosomal protein S12 Neighboring gene F-box protein 17

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: FBXO17

Homology

Clone Names

  • FLJ20450

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables serine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables serine-tRNA ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
enables tRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in mitochondrial seryl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in selenocysteinyl-tRNA(Sec) biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in seryl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in seryl-tRNA aminoacylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
serine--tRNA ligase, mitochondrial
Names
mitochondrial seryl-tRNA synthetase
serine tRNA ligase 2, mitochondrial
seryl-tRNA synthetase, mitochondrial
seryl-tRNA(Ser/Sec) synthetase
NP_001139373.1
NP_060297.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031865.1 RefSeqGene

    Range
    5134..20631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145901.2NP_001139373.1  serine--tRNA ligase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001139373.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB029948, AK293414, BC042912, CA415983
    Consensus CDS
    CCDS54265.1
    UniProtKB/Swiss-Prot
    Q9NP81
    Related
    ENSP00000472847.1, ENST00000600042.5
    Conserved Domains (2) summary
    PRK05431
    Location:58495
    PRK05431; seryl-tRNA synthetase; Provisional
    cd00770
    Location:187487
    SerRS_core; Seryl-tRNA synthetase (SerRS) class II core catalytic domain. SerRS is responsible for the attachment of serine to the 3' OH group of ribose of the appropriate tRNA. This domain It is primarily responsible for ATP-dependent formation of the enzyme bound ...
  2. NM_017827.4NP_060297.1  serine--tRNA ligase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_060297.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform b which is 2 aa shorter than isoform a.
    Source sequence(s)
    AB029948, BC042912
    Consensus CDS
    CCDS33017.1
    UniProtKB/Swiss-Prot
    Q9NP81
    Related
    ENSP00000221431.6, ENST00000221431.11
    Conserved Domains (2) summary
    cd00770
    Location:185485
    SerRS_core; Seryl-tRNA synthetase (SerRS) class II core catalytic domain. SerRS is responsible for the attachment of serine to the 3' OH group of ribose of the appropriate tRNA. This domain It is primarily responsible for ATP-dependent formation of the enzyme bound ...
    cl12057
    Location:58172
    Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    38915266..38930763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p13 PATCHES

    Range
    324938..340435 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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