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Aliases for HARS Gene

Aliases for HARS Gene

  • Histidyl-TRNA Synthetase 4 2 3
  • EC 6.1.1.21 4 63
  • HisRS 3 4
  • USH3B 3 6
  • HRS 3 4
  • Histidine--TRNA Ligase, Cytoplasmic 3
  • Histidine TRNA Ligase 1 2
  • Histidine Translase 3
  • Cytoplasmic 2

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 antisynthetase syndrome. Among its related pathways are Gene Expression and tRNA Aminoacylation. GO annotations related to this gene include 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

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 Lys75, Lys230, Lys293, and Lys376
  • Modification sites at PhosphoSitePlus

Domains for HARS Gene

Gene Families for HARS Gene

HGNC:
  • aaRS2 :Aminoacyl tRNA synthetases / Class II

Graphical View of Domain Structure for InterPro Entry

P12081

UniProtKB/Swiss-Prot:

SYHC_HUMAN :
  • P12081
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:0000166 nucleotide binding --
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

Phenotypes for HARS Gene

GenomeRNAi human phenotypes for HARS:
genes like me logo Genes that share phenotypes with HARS: view

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targeting 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
nucleus 2

Gene Ontology (GO) - Cellular Components for HARS Gene

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

Pathways 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 IEA --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with HARS: view

Compounds for HARS Gene

(5) HMDB Compounds for HARS Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
L-Histidine
  • (S)-1H-Imidazole-4-alanine
71-00-1
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8

(1) Drugbank Compounds for HARS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Histidine
  • (S)-4-(2-Amino-2-carboxyethyl)imidazole
71-00-1 target
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

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

Primer Products

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

Integrated Proteomics: protein expression 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 expressions with HARS: view

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
chimpanzee
(Pan troglodytes)
Mammalia HARS 35
  • 99.74 (n)
  • 99.8 (a)
HARS 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia HARS 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 74 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hars 35
  • 88.85 (n)
  • 94.69 (a)
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
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10028 35
zebrafish
(Danio rerio)
Actinopterygii Dr.4161 35
hars 35
  • 73.22 (n)
  • 78.93 (a)
hars 36
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000735 35
  • 61.18 (n)
  • 61.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta Aats-his 35
  • 62.65 (n)
  • 65.86 (a)
Aats-his 36
  • 57 (a)
OneToMany
CG6335 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea hars-1 35
  • 57.59 (n)
  • 56.91 (a)
hars-1 36
  • 51 (a)
OneToMany
hrs-1 37
  • 53 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR187W 35
  • 56.76 (n)
  • 55.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 35
  • 54.34 (n)
  • 55.25 (a)
HTS1 36
  • 45 (a)
OneToMany
HTS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06381g 35
  • 54.91 (n)
  • 55.84 (a)
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)
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 intestinalis)
Ascidiacea Cin.3858 35
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

Selected 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
rs702396 -- 140,688,523(-) tgtta(C/G)ttttg intron-variant
rs801185 -- 140,689,284(-) ggtat(C/T)cacat intron-variant
rs801186 -- 140,688,193(-) Acaag(A/G)ctctt intron-variant
rs801187 -- 140,687,634(-) taaat(A/T)aatta intron-variant
rs801188 -- 140,687,331(-) tgttg(A/C)ccagg intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv830508 CNV Loss 17160897

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

(1) OMIM Diseases for HARS Gene (142810)

UniProtKB/Swiss-Prot

SYHC_HUMAN
  • 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.
  • 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}.

(4) University of Copenhagen DISEASES for HARS Gene

(2) Novoseek inferred disease relationships for HARS Gene

Disease -log(P) Hits PubMed IDs
myositis 78.2 7
polymyositis 65.8 1

Relevant External Links for HARS

Human Genome Epidemiology (HuGE) Navigator
HARS
genes like me logo Genes that share disorders with HARS: view

Publications for HARS Gene

  1. Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases. (PMID: 1549469) Raben N. … Plotz P. (Nucleic Acids Res. 1992) 3 4 23
  2. A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS. (PMID: 7755634) O'Hanlon T.P. … Miller F.W. (Biochem. Biophys. Res. Commun. 1995) 3 4 23
  3. Transcriptional analyses of the gene region that encodes human histidyl-tRNA synthetase: identification of a novel bidirectional regulatory element. (PMID: 8406012) Tsui H.W. … Tsui F.W.L. (Gene 1993) 3 4 23
  4. Isolation, structure and expression of mammalian genes for histidyl- tRNA synthetase. (PMID: 3554142) Tsui F.W.L. … Siminovitch L. (Nucleic Acids Res. 1987) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for HARS Gene

Sources for HARS Gene

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