HARS1 Gene Summary [Human]

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]

Details

Type
Retained Intron
Official Symbol
HARS1
Official Name
histidyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:4816]
Ensembl ID
ENSG00000170445
Bio databases IDs NCBI: 3035 Ensembl: ENSG00000170445
Aliases histidyl-tRNA synthetase 1, histidine tRNA ligase 1, cytoplasmic, Jo‐1 antigen
Synonyms CMT2W, Dnd1, HARS, Histidyl-tRNA synthetase, histidyl-tRNA synthetase 1, HRS, MMHRS, USH3B
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • histidine-tRNA ligase
  • HGTP_anticodon
  • class_II_aaRS-like_core
  • histidyl-tRNA synthetase
  • S15_NS1_EPRS_RNA-bind
  • ATP binding
  • ATP phosphoribosyltransferase, regulatory subunit
  • enzyme
  • identical protein binding
  • WHEP-TRS domain
  • Anticodon binding domain
  • protein homodimerization
  • WHEP-TRS

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Usher syndrome type 3
  • hereditary spastic ataxia
  • axonal Charcot-Marie-Tooth disease type 2W
  • myositis
  • Usher syndrome type IIIB
  • hereditary disorder
  • peripheral neuropathy
regulated by
regulates
role in cell
  • activation in
  • migration
  • signaling in
  • cellular infiltration
  • chemotaxis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HARS1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tRNA aminoacylation for protein translation
  • histidyl-tRNA aminoacylation
  • mitochondrial translation
  • translation

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • mitochondrion
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • histidine-tRNA ligase activity
  • ATP binding
  • identical protein binding
  • protein homodimerization activity
  • RNA binding

Gene-Specific Assays for Results You Can Trust

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