Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HARS Gene

Aliases for HARS Gene

  • Histidyl-TRNA Synthetase 4 2 3
  • EC 6.1.1.21 4 63
  • HisRS 3 4
  • HRS 3 4
  • Histidine TRNA Ligase 1 2
  • Histidine Translase 3
  • Cytoplasmic 2
  • USH3B 3

External Ids for HARS Gene

Previous GeneCards Identifiers for HARS Gene

  • GC05M139869
  • GC05M140036
  • GC05M140081
  • GC05M140034
  • GC05M135198

Summaries for HARS Gene

Entrez Gene Summary for HARS Gene

  • Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for HARS Gene

HARS (Histidyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with HARS include usher syndrome type 3b and charcot-marie-tooth disease, axonal, type 2w. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include nucleotide binding and histidine-tRNA ligase activity. An important paralog of this gene is HARS2.

Gene Wiki entry for HARS Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HARS Gene

Genomics for HARS Gene

Regulatory Elements for HARS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HARS Gene

Chromosome:
5
Start:
140,673,173 bp from pter
End:
140,692,024 bp from pter
Size:
18,852 bases
Orientation:
Minus strand

Genomic View for HARS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HARS Gene

Proteins for HARS Gene

  • Protein details for HARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12081-SYHC_HUMAN
    Recommended name:
    Histidine--tRNA ligase, cytoplasmic
    Protein Accession:
    P12081
    Secondary Accessions:
    • B4DHQ1
    • B4DY73
    • D6REN6
    • J3KNE5

    Protein attributes for HARS Gene

    Size:
    509 amino acids
    Molecular mass:
    57411 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAA28956.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HARS Gene

    Alternative splice isoforms for HARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HARS Gene

Proteomics data for HARS Gene at MOPED

Post-translational modifications for HARS Gene

  • Ubiquitination at Lys 75 and Lys 230
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for HARS Gene

Gene Families for HARS Gene

Graphical View of Domain Structure for InterPro Entry

P12081

UniProtKB/Swiss-Prot:

SYHC_HUMAN :
  • Contains 1 WHEP-TRS domain.
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Domain:
  • Contains 1 WHEP-TRS domain.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with HARS: view

Function for HARS Gene

Molecular function for HARS Gene

GENATLAS Biochemistry:
histidyl-tRNA synthetase,target autoantibodies in the immune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His)

Enzyme Numbers (IUBMB) for HARS Gene

Gene Ontology (GO) - Molecular Function for HARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA ligase activity --
GO:0004821 histidine-tRNA ligase activity NAS 1549469
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with HARS: view
genes like me logo Genes that share phenotypes with HARS: view

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HARS Gene

Localization for HARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HARS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HARS Gene COMPARTMENTS Subcellular localization image for HARS gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 1

Gene Ontology (GO) - Cellular Components for HARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21464306
GO:0005739 mitochondrion IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HARS: view

Pathways & Interactions for HARS Gene

genes like me logo Genes that share pathways with HARS: view

Pathways by source for HARS Gene

1 KEGG pathway for HARS Gene

Gene Ontology (GO) - Biological Process for HARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 7755634
GO:0006418 tRNA aminoacylation for protein translation TAS --
GO:0006427 histidyl-tRNA aminoacylation IBA --
GO:0010467 gene expression TAS --
GO:0032543 mitochondrial translation IBA --
genes like me logo Genes that share ontologies with HARS: view

No data available for SIGNOR curated interactions for HARS Gene

Drugs & Compounds for HARS Gene

(4) Drugs for HARS Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Histidine Approved Nutra Target 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for HARS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with HARS: view

Transcripts for HARS Gene

Unigene Clusters for HARS Gene

Histidyl-tRNA synthetase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HARS

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HARS Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a ·
SP1: - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - - - - - - - -
SP6: - -
SP7: - - -
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 11b · 11c ^ 12 ^ 13a · 13b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for HARS Gene

GeneLoc Exon Structure for
HARS
ECgene alternative splicing isoforms for
HARS

Expression for HARS Gene

mRNA expression in normal human tissues for HARS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HARS Gene

This gene is overexpressed in Lymph node (11.7) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HARS Gene



SOURCE GeneReport for Unigene cluster for HARS Gene Hs.528050

mRNA Expression by UniProt/SwissProt for HARS Gene

P12081-SYHC_HUMAN
Tissue specificity: Brain, heart, liver and kidney
genes like me logo Genes that share expression patterns with HARS: view

Protein tissue co-expression partners for HARS Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for HARS Gene

Orthologs for HARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HARS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HARS 35
  • 90.83 (n)
  • 96.07 (a)
HARS 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HARS 35
  • 90.7 (n)
  • 95.87 (a)
HARS 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hars 35
  • 88.34 (n)
  • 94.89 (a)
Hars 16
Hars 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HARS 35
  • 99.74 (n)
  • 99.8 (a)
HARS 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hars 35
  • 88.85 (n)
  • 94.69 (a)
oppossum
(Monodelphis domestica)
Mammalia HARS 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves HARS 35
  • 77.29 (n)
  • 83.77 (a)
HARS 36
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489846 35
  • 67.92 (n)
  • 67.68 (a)
Str.5457 35
zebrafish
(Danio rerio)
Actinopterygii Dr.4161 35
hars 35
  • 73.22 (n)
  • 78.93 (a)
hars 36
  • 73 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10028 35
fruit fly
(Drosophila melanogaster)
Insecta CG6335 37
  • 63 (a)
Aats-his 35
  • 62.65 (n)
  • 65.86 (a)
Aats-his 36
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000735 35
  • 61.18 (n)
  • 61.65 (a)
worm
(Caenorhabditis elegans)
Secernentea hrs-1 37
  • 53 (a)
hars-1 35
  • 57.59 (n)
  • 56.91 (a)
hars-1 36
  • 51 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR187W 35
  • 56.76 (n)
  • 55.43 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06381g 35
  • 54.91 (n)
  • 55.84 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 35
  • 54.34 (n)
  • 55.25 (a)
HTS1 36
  • 45 (a)
OneToMany
HTS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02760 35
  • 58.18 (n)
  • 58.41 (a)
rice
(Oryza sativa)
Liliopsida Os05g0150900 35
  • 58.12 (n)
  • 56.12 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3858 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06914 35
  • 58.47 (n)
  • 54.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hrs1 35
  • 55.15 (n)
  • 55.69 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8844 36
  • 63 (a)
OneToMany
Species with no ortholog for HARS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HARS Gene

ENSEMBL:
Gene Tree for HARS (if available)
TreeFam:
Gene Tree for HARS (if available)

Paralogs for HARS Gene

Paralogs for HARS Gene

(2) SIMAP similar genes for HARS Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with HARS: view

Variants for HARS Gene

Sequence variations from dbSNP and Humsavar for HARS Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
VAR_061908 -
VAR_067918 Usher syndrome 3B (USH3B)
VAR_069021 -
VAR_069022 -
VAR_069023 -

Structural Variations from Database of Genomic Variants (DGV) for HARS Gene

Variant ID Type Subtype PubMed ID
nsv830508 CNV Loss 17160897

Variation tolerance for HARS Gene

Residual Variation Intolerance Score: 43.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HARS Gene

HapMap Linkage Disequilibrium report
HARS
Human Gene Mutation Database (HGMD)
HARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HARS Gene

Disorders for HARS Gene

MalaCards: The human disease database

(12) MalaCards diseases for HARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome type 3b
  • usher syndrome 3b
charcot-marie-tooth disease, axonal, type 2w
usher syndrome, type 3a
  • usher syndrome type 3
dentatorubro-pallidoluysian atrophy
  • dentatorubral-pallidoluysian atrophy
myositis
  • inflammatory disorder of muscle
- elite association
Search HARS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYHC_HUMAN
  • Note=HARS mutations may be involved in peripheral neuropathy, a disease mainly characterized by distal motor and sensory dysfunction. Inherited peripheral neuropathies are clinically and genetically heterogeneous with variable age of onset and reduced penetrance associated with specific loci. HARS mutations may directly predispose patients to peripheral neuropathy or may modify a peripheral neuropathy phenotype by contributing to the genetic and environmental load in a given patient (PubMed:22930593). {ECO:0000269 PubMed:22930593}.
  • Usher syndrome 3B (USH3B) [MIM:614504]: A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called Charles Bonnet syndrome, involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269 PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HARS

Human Genome Epidemiology (HuGE) Navigator
HARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HARS
genes like me logo Genes that share disorders with HARS: view

No data available for Genatlas for HARS Gene

Publications for HARS Gene

  1. Intraphylum diversity and complex evolution of cyanobacterial aminoacyl-tRNA synthetases. (PMID: 18775898) Luque I. … Ochoa de Alda J.A. (Mol. Biol. Evol. 2008) 23 67
  2. Novel conformation of histidyl-transfer RNA synthetase in the lung: the target tissue in Jo-1 autoantibody-associated myositis. (PMID: 17665459) Levine S.M. … Casciola-Rosen L.A. (Arthritis Rheum. 2007) 23 67
  3. Fab1 phosphatidylinositol 3-phosphate 5-kinase controls trafficking but not silencing of endocytosed receptors. (PMID: 16837550) Rusten T.E. … Stenmark H. (Mol. Biol. Cell 2006) 23 67
  4. Evolutionary conservation of a functionally important backbone phosphate group critical for aminoacylation of histidine tRNAs. (PMID: 16741232) Rosen A.E. … Musier-Forsyth K. (RNA 2006) 25 26
  5. Molecular recognition of histidine tRNA by histidyl-tRNA synthetase from hyperthermophilic archaeon, Aeropyrum pernix K1. (PMID: 17150756) Nagatoyo Y. … Hasegawa T. (Nucleic Acids Symp Ser (Oxf) 2005) 25 26

Products for HARS Gene

Sources for HARS Gene

Back to Top

Content