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HARS2 histidyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

Gene ID: 23438, updated on 12-Aug-2018

Summary

Official Symbol
HARS2provided by HGNC
Official Full Name
histidyl-tRNA synthetase 2, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:4817
See related
Ensembl:ENSG00000112855 MIM:600783; Vega:OTTHUMG00000129500
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
HO3; HARSL; HARSR; HisRS; PRLTS2
Summary
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in colon (RPKM 9.6), endometrium (RPKM 9.1) and 25 other tissues See more
Orthologs

Genomic context

See HARS2 in Genome Data Viewer
Location:
5q31.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (140691426..140699318)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140071011..140078903)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene WD repeat domain 55 Neighboring gene DND microRNA-mediated repression inhibitor 1 Neighboring gene histidyl-tRNA synthetase Neighboring gene zinc finger matrin-type 2 Neighboring gene uncharacterized LOC105378198 Neighboring gene vault RNA 1-1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA is identified to have a physical interaction with histidyl-tRNA synthetase 2, mitochondrial (HARS2; HO3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
gag HO3 binds to the HIV-1 Matrix protein (amino acids 26 and 27) resulting in the incorporation of HO3 into virus particles and the enhancement of virus infectivity PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
histidine-tRNA ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histidine-tRNA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
histidine-tRNA ligase activity NAS
Non-traceable Author Statement
more info
PubMed 
histidine-tRNA ligase activity TAS
Traceable Author Statement
more info
 
identical protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
histidyl-tRNA aminoacylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
histidyl-tRNA aminoacylation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA aminoacylation for protein translation TAS
Traceable Author Statement
more info
 
translation NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
probable histidine--tRNA ligase, mitochondrial
Names
HARS-related
histidine tRNA ligase 2, mitochondrial (putative)
histidine translase
histidine-tRNA ligase homolog
histidyl-tRNA synthetase 2, mitochondrial (putative)
histidyl-tRNA synthetase 2, mitochondrial, hisRS
probable histidyl-tRNA synthetase, mitochondrial
NP_001265660.1
NP_001265661.1
NP_036340.1
XP_011535921.1
XP_016864777.1
XP_016864778.1
XP_016864779.1
XP_016864780.1
XP_016864781.1
XP_024301776.1

NCBI Reference Sequences (RefSeq)

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_021415.1 RefSeqGene

    Range
    4994..12886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278731.1NP_001265660.1  probable histidine--tRNA ligase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001265660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter than isoform 1.
    Source sequence(s)
    AI865702, AK293390, BC014982, DA150729
    Consensus CDS
    CCDS64267.1
    UniProtKB/Swiss-Prot
    P49590
    Related
    ENSP00000423616.1, OTTHUMP00000223668, ENST00000508522.5, OTTHUMT00000372868
    Conserved Domains (1) summary
    cl28413
    Location:36479
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  2. NM_001278732.1NP_001265661.1  probable histidine--tRNA ligase, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and lacks two alternate in-frame exons in the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which is shorter than isoform 1. This isoform (3) lacks the transit peptide present in isoforms 1 and 2, hence it is not likely to localize to the mitochondrion.
    Source sequence(s)
    AI865702, AK293269, BC014982, BQ228600, DA150729
    UniProtKB/Swiss-Prot
    P49590
    UniProtKB/TrEMBL
    B4DDN8
    Conserved Domains (2) summary
    cd00773
    Location:32251
    HisRS-like_core; Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain. HisRS is a homodimer. It is responsible for the attachment of histidine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
    cd00859
    Location:265356
    HisRS_anticodon; HisRS Histidyl-anticodon binding domain. HisRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
  3. NM_001363535.1NP_001350464.1  probable histidine--tRNA ligase, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AC116353
    Consensus CDS
    CCDS87329.1
    Conserved Domains (1) summary
    cl28413
    Location:12510
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  4. NM_001363536.1NP_001350465.1  probable histidine--tRNA ligase, mitochondrial isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (5) is shorter at the N-terminus compared to isoform 4.
    Source sequence(s)
    AC116353
    Consensus CDS
    CCDS87330.1
    Conserved Domains (1) summary
    cl28413
    Location:1434
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  5. NM_012208.3NP_036340.1  probable histidine--tRNA ligase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_036340.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AI865702, BC014982, DA150729
    Consensus CDS
    CCDS4238.1
    UniProtKB/Swiss-Prot
    P49590
    Related
    ENSP00000230771.3, OTTHUMP00000159881, ENST00000230771.8, OTTHUMT00000251670
    Conserved Domains (1) summary
    cl28413
    Location:12504
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    140691426..140699318
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537619.1XP_011535921.1  probable histidine--tRNA ligase, mitochondrial isoform X1

    Related
    ENSP00000494965.1, ENST00000646468.1
    Conserved Domains (1) summary
    cl28413
    Location:12510
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  2. XM_017009288.1XP_016864777.1  probable histidine--tRNA ligase, mitochondrial isoform X2

    Conserved Domains (1) summary
    cl28413
    Location:1434
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  3. XM_017009290.2XP_016864779.1  probable histidine--tRNA ligase, mitochondrial isoform X3

  4. XM_017009289.1XP_016864778.1  probable histidine--tRNA ligase, mitochondrial isoform X2

    Related
    ENSP00000495350.1, ENST00000643996.1
    Conserved Domains (1) summary
    cl28413
    Location:1434
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  5. XM_024446008.1XP_024301776.1  probable histidine--tRNA ligase, mitochondrial isoform X2

    Related
    ENSP00000496011.1, ENST00000642970.1
    Conserved Domains (1) summary
    cl28413
    Location:1434
    HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
  6. XM_017009291.1XP_016864780.1  probable histidine--tRNA ligase, mitochondrial isoform X3

  7. XM_017009292.1XP_016864781.1  probable histidine--tRNA ligase, mitochondrial isoform X3

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