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 loca... See more...

Aliases for HARS1 Gene

Aliases for HARS1 Gene

  • Histidyl-TRNA Synthetase 1 2 3
  • Histidyl-TRNA Synthetase 2 4 5
  • Histidine--TRNA Ligase, Cytoplasmic 3 4
  • EC 6.1.1.21 4 52
  • HisRS 3 4
  • HARS 3 5
  • HRS 3 4
  • Histidine TRNA Ligase 1, Cytoplasmic 2
  • Histidine Translase 3
  • Usher Syndrome 3B 2
  • Jo-1 Antigen 3
  • Jo‐1 Antigen 2
  • CMT2W 3
  • USH3B 3

External Ids for HARS1 Gene

Previous HGNC Symbols for HARS1 Gene

  • USH3B
  • HARS

Summaries for HARS1 Gene

Entrez Gene Summary for HARS1 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 HARS1 Gene

HARS1 (Histidyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with HARS1 include Charcot-Marie-Tooth Disease, Axonal, Type 2W and Usher Syndrome, Type Iiib. Among its related pathways are Gene Expression and tRNA Aminoacylation. An important paralog of this gene is HARS2.

UniProtKB/Swiss-Prot Summary for HARS1 Gene

  • Cytoplasmic histidine--tRNA ligase (Probable). Plays a role in axon guidance.

Gene Wiki entry for HARS1 Gene

Additional gene information for HARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HARS1 Gene

Genomics for HARS1 Gene

GeneHancer (GH) Regulatory Elements for HARS1 Gene

Promoters and enhancers for HARS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140690 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 326 3.6 EP300 ZBTB40 ZNF217 ZSCAN5C TCF12 SIN3A MYC NRF1 POLR2G PHF8 HARS1 HARS2 HSALNG0045355 lnc-DND1-3 ZMAT2 SRA1 PCDHA4 TMCO6 CD14
GH05J140710 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas 22.2 -19.3 -19274 2 ZBTB40 ZSCAN5C TCF12 SIN3A NRF1 POLR2G SP1 RBAK JUND FOS LOC105378198 VTRNA1-1 lnc-HARS-1 PCDHB18P PURA PCDHGA6 PCDHA4 PCDHB19P HARS1 PCDHGA7
GH05J140717 Promoter/Enhancer 1.4 Ensembl ENCODE 22.2 -27.6 -27567 3 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C TCF12 NCOR1 JUND FOS PHB2 VTRNA1-2 PURA PCDHB18P PCDHB19P PCDHB15 PCDHB12 PCDHB3 PCDHB9 PCDHB13 PCDHB7
GH05J140725 Promoter/Enhancer 1.4 Ensembl ENCODE 22.2 -34.4 -34374 1.8 ZBTB40 ZSCAN5C TCF12 JUND FOS ZNF639 ZNF10 ZBTB5 ZIC2 REST VTRNA1-3 PURA PCDHB19P PCDHB18P PCDHA4 HARS1 MALINC1 SRA1 PCDHGA6 PCDHGA7
GH05J140341 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +346.2 346170 8.9 CTCF ZSCAN5C TCF12 NRF1 POLR2G SP1 PHF8 FOS ZFX POLR2A HBEGF lnc-PFDN1-2 SRA1 PFDN1 HARS1 APBB3 SLC35A4 CD14 PCDHB15 PCDHA7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HARS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HARS1

Genomic Locations for HARS1 Gene

Genomic Locations for HARS1 Gene
chr5:140,673,904-140,691,727
(GRCh38/hg38)
Size:
17,824 bases
Orientation:
Minus strand
chr5:140,052,758-140,071,609
(GRCh37/hg19)
Size:
18,852 bases
Orientation:
Minus strand

Genomic View for HARS1 Gene

Genes around HARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HARS1 Gene

Proteins for HARS1 Gene

  • Protein details for HARS1 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 HARS1 Gene

    Size:
    509 amino acids
    Molecular mass:
    57411 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=CAA28956.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HARS1 Gene

    Alternative splice isoforms for HARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HARS1 Gene

Selected DME Specific Peptides for HARS1 Gene

P12081:
  • GLGDLKLLFEYL
  • REFYQCD
  • GKYGEDSKLIY
  • LKTPKGT
  • GLDYYTG
  • KLLKLKAQLG
  • ICSSVDKLDK
  • VAAGGRYD
  • LWDAGIKAELLYKKNPKLLNQLQYCEE
  • KGLAPEVADRIGD
  • VPCVGLSIGVERIF
  • RTTETQV
  • DLTVPFAR
  • LRYDLTVPF
  • CFKRHGA
  • GGRYDGL
  • IMCEILS
  • VRGLKQQKASA

Post-translational modifications for HARS1 Gene

  • Ubiquitination at Lys75 and Lys230
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for HARS1
  • Boster Bio Antibodies for HARS1

Domains & Families for HARS1 Gene

Gene Families for HARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for HARS1 Gene

Suggested Antigen Peptide Sequences for HARS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42841 fis, clone BRCOC2003213, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21) (B3KWE1_HUMAN)
  • cDNA FLJ53703, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21) (B4DDD8_HUMAN)
  • cDNA FLJ58554, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21) (B4DY73_HUMAN)
  • cDNA FLJ58562, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21) (B4E1C5_HUMAN)
  • Histidine--tRNA ligase (SYHC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12081

UniProtKB/Swiss-Prot:

SYHC_HUMAN :
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-II aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with HARS1: view

Function for HARS1 Gene

Molecular function for HARS1 Gene

UniProtKB/Swiss-Prot Function:
Cytoplasmic histidine--tRNA ligase (Probable). Plays a role in axon guidance.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-histidine + tRNA(His) = AMP + diphosphate + H(+) + L-histidyl-tRNA(His); Xref=Rhea:RHEA:17313, Rhea:RHEA-COMP:9665, Rhea:RHEA-COMP:9689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57595, ChEBI:CHEBI:78442, ChEBI:CHEBI:78527, ChEBI:CHEBI:456215; EC=6.1.1.21;.

Enzyme Numbers (IUBMB) for HARS1 Gene

Phenotypes From GWAS Catalog for HARS1 Gene

Gene Ontology (GO) - Molecular Function for HARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004821 histidine-tRNA ligase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0042802 identical protein binding IBA,IPI 22958643
genes like me logo Genes that share ontologies with HARS1: view
genes like me logo Genes that share phenotypes with HARS1: view

Human Phenotype Ontology for HARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HARS1 Gene

miRTarBase miRNAs that target HARS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HARS1

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HARS1 Gene

Localization for HARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HARS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HARS1 gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21464306
GO:0005739 mitochondrion IBA 21873635
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with HARS1: view

Pathways & Interactions for HARS1 Gene

genes like me logo Genes that share pathways with HARS1: view

Pathways by source for HARS1 Gene

1 BioSystems pathway for HARS1 Gene
1 KEGG pathway for HARS1 Gene

Gene Ontology (GO) - Biological Process for HARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 7755634
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006427 histidyl-tRNA aminoacylation IBA 21873635
GO:0032543 mitochondrial translation IBA 21873635
genes like me logo Genes that share ontologies with HARS1: view

No data available for SIGNOR curated interactions for HARS1 Gene

Drugs & Compounds for HARS1 Gene

(4) Drugs for HARS1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Histidine Investigational Nutra Target 59
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for HARS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with HARS1: view

Transcripts for HARS1 Gene

mRNA/cDNA for HARS1 Gene

7 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HARS1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HARS1 Gene

No ASD Table

Relevant External Links for HARS1 Gene

GeneLoc Exon Structure for
HARS1

Expression for HARS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HARS1

SOURCE GeneReport for Unigene cluster for HARS1 Gene:

Hs.528050

mRNA Expression by UniProt/SwissProt for HARS1 Gene:

P12081-SYHC_HUMAN
Tissue specificity: Brain, heart, liver and kidney.

Evidence on tissue expression from TISSUES for HARS1 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.3)
  • Skin(2.9)
  • Kidney(2.4)
  • Intestine(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HARS1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with HARS1: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for HARS1 Gene

Orthologs for HARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HARS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HARS 31 30
  • 99.74 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HARS 31 30
  • 90.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HARS 31 30
  • 90.7 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HARS 31
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hars 30
  • 88.85 (n)
mouse
(Mus musculus)
Mammalia Hars 17 31 30
  • 88.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 74 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves HARS 31 30
  • 77.29 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489846 30
  • 67.92 (n)
Str.5457 30
zebrafish
(Danio rerio)
Actinopterygii hars 31 30
  • 73.22 (n)
OneToMany
Dr.4161 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10028 30
fruit fly
(Drosophila melanogaster)
Insecta Aats-his 31 30
  • 62.65 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000735 30
  • 61.18 (n)
worm
(Caenorhabditis elegans)
Secernentea hars-1 31 30
  • 57.59 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR187W 30
  • 56.76 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06381g 30
  • 54.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 33 31 30
  • 54.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G02760 30
  • 58.18 (n)
rice
(Oryza sativa)
Liliopsida Os05g0150900 30
  • 58.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8844 31
  • 63 (a)
OneToMany
Cin.3858 30
bread mold
(Neurospora crassa)
Ascomycetes NCU06914 30
  • 58.47 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hrs1 30
  • 55.15 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3858 30
Species where no ortholog for HARS1 was found in the sources mined by GeneCards:
  • 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 HARS1 Gene

ENSEMBL:
Gene Tree for HARS1 (if available)
TreeFam:
Gene Tree for HARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HARS1: view image

Paralogs for HARS1 Gene

Paralogs for HARS1 Gene

genes like me logo Genes that share paralogs with HARS1: view

Variants for HARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HARS1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
565367 Uncertain Significance: Usher syndrome, type 3B 140,683,197(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
566059 Uncertain Significance: Usher syndrome, type 3B 140,676,650(-) C/T INTRON_VARIANT
568450 Uncertain Significance: Usher syndrome, type 3B 140,683,156(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
576600 Uncertain Significance: Usher syndrome, type 3B 140,677,705(-) A/C MISSENSE_VARIANT
576639 Uncertain Significance: Usher syndrome, type 3B 140,676,715(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HARS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HARS1 Gene

Variant ID Type Subtype PubMed ID
nsv830508 CNV loss 17160897
nsv964945 CNV duplication 23825009

Variation tolerance for HARS1 Gene

Residual Variation Intolerance Score: 43.6% 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)

Additional Variant Information for HARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HARS1 Gene

Disorders for HARS1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for HARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, axonal, type 2w
  • cmt2w
usher syndrome, type iiib
  • ush3b
usher syndrome, type iiia
  • ush3a
usher syndrome
  • retinitis pigmentosa-deafness syndrome
myositis
  • myopathy, familial idiopathic inflammatory; iim
- elite association - COSMIC cancer census association via MalaCards
Search HARS1 in MalaCards View complete list of genes associated with diseases

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.
  • Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2W patients manifest a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Most patients also have upper limb involvement. {ECO:0000269 PubMed:22930593, ECO:0000269 PubMed:26072516}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HARS1

genes like me logo Genes that share disorders with HARS1: view

No data available for Genatlas for HARS1 Gene

Publications for HARS1 Gene

  1. Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger EG … Strauss KA (PloS one 2012) 2 3 4 54
  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 TP … Miller FW (Biochemical and biophysical research communications 1995) 3 4 23 54
  3. Transcriptional analyses of the gene region that encodes human histidyl-tRNA synthetase: identification of a novel bidirectional regulatory element. (PMID: 8406012) Tsui HW … Tsui FW (Gene 1993) 3 4 23 54
  4. Human histidyl-tRNA synthetase: recognition of amino acid signature regions in class 2a aminoacyl-tRNA synthetases. (PMID: 1549469) Raben N … Plotz P (Nucleic acids research 1992) 3 4 23 54
  5. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. (PMID: 26072516) Safka Brozkova D … Baets J (Brain : a journal of neurology 2015) 3 4 54

Products for HARS1 Gene

Sources for HARS1 Gene