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 5
  • HisRS 2 3 4
  • Histidine--TRNA Ligase, Cytoplasmic 3 4
  • Histidyl-TRNA Synthetase 2 4
  • EC 6.1.1.21 4 50
  • HARS 3 4
  • HRS 3 4
  • Histidine TRNA Ligase 1, Cytoplasmic 2
  • Histidine Translase 3
  • Usher Syndrome 3B 2
  • Jo‐1 Antigen 2
  • Jo-1 Antigen 3
  • CMT2W 3
  • USH3B 3
  • HARS1 5

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 tRNA Aminoacylation and Allograft rejection. An important paralog of this gene is HARS2.

UniProtKB/Swiss-Prot Summary for HARS1 Gene

  • Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516).

Gene Wiki entry 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 Pubs

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 250.7 +0.1 136 3.6 BCLAF1 ZNF207 NCOR1 MYC ZNF600 ZNF580 KLF9 POLR2A CEBPA ZIC2 HARS2 HARS1 HSALNG0045355 HSALNG0045356 lnc-DND1-3 ZMAT2 ENSG00000228737 HDAC3 TMCO6 ANKHD1
GH05J141610 Enhancer 0.6 dbSUPER 4 -921.5 -921539 4.6 MNT PRDM6 HLTF ZNF362 ATF4 MLLT1 EGR2 KDM1A ZBTB33 PKNOX1 ARAP3 FCHSD1 PCDHGA6 HDAC3 PCDHB17P PCDHGA8 HARS1 DIAPH1 ENSG00000228737 RPS27AP10
GH05J140678 Enhancer 0.7 Ensembl 0.4 +11.7 11737 1.6 IKZF1 NCOR1 NFIC TAF9B TAL1 MYNN STAT5A FOXM1 HDAC2 TCF12 TMCO6 NDUFA2 IK EIF4EBP3 lnc-DND1-2 DND1 HARS1 HARS2 lnc-DND1-3
GH05J140688 Enhancer 0.4 Ensembl 0.7 +2.9 2936 0.4 HNF4A SP1 GABPA CD14 HARS1 HARS2 lnc-DND1-3 lnc-DND1-2 DND1
GH05J140673 Promoter 0.6 EPDnew 0.4 +18.0 17967 0.1 POLR2A SUPT5H ZBTB33 DND1 lnc-DND1-1 lnc-DND1-2 piR-49042-003 WDR55 HARS1
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for HARS1 Gene

Latest Assembly
chr5:140,673,035-140,691,537
(GRCh38/hg38)
Size:
18,503 bases
Orientation:
Minus strand

Previous Assembly
chr5:140,053,490-140,070,955
(GRCh37/hg19 by Entrez Gene)
Size:
17,466 bases
Orientation:
Minus strand

chr5:140,052,758-140,071,609
(GRCh37/hg19 by Ensembl)
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-HARS1_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

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:

HARS1_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:
Catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516).
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; Evidence={ECO:0000269|PubMed:29235198};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8.0 uM for histidine {ECO:0000269|PubMed:29235198}; KM=0.872 uM for tRNA(His) {ECO:0000269|PubMed:29235198}; KM=44.2 uM for ATP {ECO:0000269|PubMed:29235198}; Note=kcat is 5.4 sec(-1) for aminoacylation of tRNA(His) (PubMed:29235198). kcat is 4.1 sec(-1) for histidine. (PubMed:29235198). kcat is 5.8 sec(-1) for ATP (PubMed:29235198). {ECO:0000269|PubMed:29235198};

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:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004821 histidine-tRNA ligase activity IEA,TAS --
GO:0005524 ATP binding IEA,IDA 29235198
GO:0016874 ligase activity IEA --
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

Inhibitory RNAs for research

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

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
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 IEA,NAS 7755634
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006427 histidyl-tRNA aminoacylation IEA,IDA 29235198
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
Adenosine monophosphate Approved, Investigational Nutra 0
Phosphate Experimental Pharma 0
Histidine Investigational Nutra Target 67
ATP Investigational Nutra 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
  • Pyrophosphoric acid
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 :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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-HARS1_HUMAN
Tissue specificity: Brain, heart, liver and kidney.

Evidence on tissue expression from TISSUES for HARS1 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.5)
  • Skin(3.4)
  • Kidney(2.9)
  • Intestine(2.6)
  • Muscle(2.5)
  • Blood(2.3)
  • Heart(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)
  • Eye(2.1)

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

Primer products for research

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 29 30
  • 99.74 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HARS 29 30
  • 90.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HARS 29 30
  • 90.7 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HARS 30
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hars 29
  • 88.85 (n)
Mouse
(Mus musculus)
Mammalia Hars 29 16 30
  • 88.34 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 74 (a)
OneToMany
-- 30
  • 58 (a)
OneToMany
Chicken
(Gallus gallus)
Aves HARS 29 30
  • 77.29 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 73 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489846 29
  • 67.92 (n)
Str.5457 29
Zebrafish
(Danio rerio)
Actinopterygii hars 29 30
  • 73.22 (n)
OneToMany
Dr.4161 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10028 29
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-his 29 30
  • 62.65 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000735 29
  • 61.18 (n)
Worm
(Caenorhabditis elegans)
Secernentea hars-1 29 30
  • 57.59 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ACR187W 29
  • 56.76 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06381g 29
  • 54.91 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HTS1 29 30 32
  • 54.34 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G02760 29
  • 58.18 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0150900 29
  • 58.12 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8844 30
  • 63 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU06914 29
  • 58.47 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hrs1 29
  • 55.15 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3858 29
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
Alliance of Genome Resources:
Additional Orthologs for HARS1

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
1001366 Uncertain Significance: Usher syndrome, type 3B 140,691,301(-) C/T
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)
SPLICE_DONOR_VARIANT,MISSENSE
1003931 Uncertain Significance: Usher syndrome, type 3B 140,677,366(-) C/T
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)
MISSENSE
1004832 Uncertain Significance: Usher syndrome, type 3B 140,690,935(-) C/G
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)
MISSENSE
1006941 Uncertain Significance: Usher syndrome, type 3B 140,677,734(-) A/G
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)
MISSENSE
1010871 Uncertain Significance: Usher syndrome, type 3B 140,677,656(-) T/C
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
HARS1

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

Disorders for HARS1 Gene

MalaCards: The human disease database

(35) MalaCards diseases for HARS1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search HARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HARS1_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 variants 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, ECO:0000269 PubMed:29235198}. Note=The disease is caused by variants 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 72
  2. Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy. (PMID: 29235198) Abbott JA … Francklyn C (Human mutation 2018) 3 4 72
  3. 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 72
  4. 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 22
  5. 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 22

Products for HARS1 Gene

Sources for HARS1 Gene