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Hars1 Gene Detail
Summary
  • Symbol
    Hars1
  • Name
    histidyl-tRNA synthetase 1
  • Synonyms
    Hars, MMHRS
  • Feature Type
    protein coding gene
  • IDs
    MGI:108087
    NCBI Gene: 15115
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:36899581-36916258 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 19.46 cM, cytoband B3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    428 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108087
 protein coding gene Chr18:36899581-36916258 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024291
 protein coding gene Chr18:35179612-35197369 (-)
A/J MGP_AJ_G0024257
 protein coding gene Chr18:33940567-33958382 (-)
AKR/J MGP_AKRJ_G0024225
 protein coding gene Chr18:34895616-34921901 (-)
BALB/cJ MGP_BALBcJ_G0024257
 protein coding gene Chr18:33989713-34006823 (-)
C3H/HeJ MGP_C3HHeJ_G0024024
 protein coding gene Chr18:34959538-34976001 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024698
 protein coding gene Chr18:36416224-36434672 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022138
 protein coding gene Chr18:34034445-34050404 (-)
CAST/EiJ MGP_CASTEiJ_G0023499
 protein coding gene Chr18:34975394-34991524 (-)
CBA/J MGP_CBAJ_G0023992
 protein coding gene Chr18:37493827-37512368 (-)
DBA/2J MGP_DBA2J_G0024124
 protein coding gene Chr18:33557694-33573913 (-)
FVB/NJ MGP_FVBNJ_G0024091
 protein coding gene Chr18:33267817-33284635 (-)
LP/J MGP_LPJ_G0024206
 protein coding gene Chr18:35213808-35229809 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024119
 protein coding gene Chr18:38707915-38725332 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024747
 protein coding gene Chr18:34766010-34782113 (-)
PWK/PhJ MGP_PWKPhJ_G0023243
 protein coding gene Chr18:33819072-33836509 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023050
 protein coding gene Chr18:35018421-35035096 (-)
WSB/EiJ MGP_WSBEiJ_G0023562
 protein coding gene Chr18:34685731-34704845 (-)



Homology
more
  • Human Ortholog
    HARS1, histidyl-tRNA synthetase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HARS1, histidyl-tRNA synthetase 1
  • Synonyms
    CMT2W, HARS, HRS, USH3B
  • Links
    NCBI Gene ID: 3035
    neXtProt AC: NX_P12081
    UniProt: P12081

  • Chr Location
    5q31.3; chr5:140673035-140691537 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human HARS1 associations

Human Disease Mouse Models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU-induced mutation exhibit deafness.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    4
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    881
  • Tissues
    146
  • cDNA Data
    140
  • Literature Summary
    3
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 15115 NCBI Gene Model | MGI Sequence Detail 16678 C57BL/6J ±  kb
transcript NM_008214 RefSeq | MGI Sequence Detail 1999 C57BL/6  
polypeptide Q61035 UniProt | EBI | MGI Sequence Detail 509 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    8 Sequences
  • Protein Ontology
    PR:000008448 histidyl-tRNA synthetase, cytoplasmic
    (term hierarchy)
  • EC
    6.1.1.21
  • InterPro Domains
    IPR006195 Aminoacyl-tRNA synthetase, class II
    IPR004154 Anticodon-binding
    IPR036621 Anticodon-binding domain superfamily
    IPR045864 Class II Aminoacyl-tRNA synthetase/Biotinyl protein ligase (BPL) and lipoyl protein ligase (LPL)
    IPR041715 Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain
    IPR015807 Histidine-tRNA ligase
    IPR004516 Histidine-tRNA ligase/ATP phosphoribosyltransferase regulatory subunit
    IPR033656 Histidyl-anticodon-binding
    IPR009068 uS15/NS1, RNA-binding domain superfamily
    IPR000738 WHEP-TRS domain
  • GlyGen
    Q61035 1 site, 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 142
    cDNA 141
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-37124, MGI:7450909
References
more
  • Summaries
    All 35
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:36427 Blechynden LM, et al., Sequence and polymorphism analysis of the murine gene encoding histidyl-tRNA synthetase. Gene. 1996 Oct 31;178(1-2):151-6
  • Latest
    J:347500 Cui Q, et al., Diverse CMT2 neuropathies are linked to aberrant G3BP interactions in stress granules. Cell. 2023 Feb 16;186(4):803-820.e25
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory