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

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; AllianceGenome:HGNC:17697
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: mouse all
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Genomic context

Location:: 19q13.2

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (38915266..38930763, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (41719237..41734732, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (39405906..39421403, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Title: Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
Title: Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease.
The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Title: The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4.
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
Title: Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.
These data further support that the mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with hearing loss.
Title: Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
NF-Y type CCAAT boxes are found preferentially in bidirectional Mrps12/Sarsm promoters, but many such promoters lack them and must be regulated in another way.
Title: NF-Y influences directionality of transcription from the bidirectional Mrps12/Sarsm promoter in both mouse and human cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome MedGen: C3151209 OMIM: 613845 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH39132 (e-PCR)
- UniSTS:91666

RH12266 (e-PCR)
- UniSTS:25126

SHGC-33491 (e-PCR)
- UniSTS:74980

STS-T78012 (e-PCR)
- UniSTS:43766

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 more info	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
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

Process	Evidence Code	Pubs
involved_in mitochondrial seryl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in seryl-tRNA aminoacylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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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

EC 6.1.1.11

NP_060297.1

EC 6.1.1.11

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

NG_031865.1 RefSeqGene

Range

5134..20631

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001145901.2 → NP_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/TrEMBL

M0QWZ7

Related

ENSP00000472847.1, ENST00000600042.5

Conserved Domains (2) summary

PRK05431
Location:58 → 495

PRK05431; seryl-tRNA synthetase; Provisional

cd00770
Location:187 → 487

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 ...
NM_017827.4 → NP_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

A6NHW7, B4DE10, Q9BVP3, Q9NP81

UniProtKB/TrEMBL

M0QWZ7

Related

ENSP00000221431.6, ENST00000221431.11

Conserved Domains (2) summary

cd00770
Location:185 → 485

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:58 → 172

Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain