Hars1 MGI Mouse Gene Detail - MGI:108087 - histidyl-tRNA synthetase 1

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

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

SNPs within 2kb

428 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:4816

NCBI Gene ID: 3035

neXtProt AC: NX_P12081

UniProt: P12081
Chr Location

5q31.3; chr5:140673035-140691537 (-) GRCh38

MGI Vertebrate Homology

Hars1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HARS1
Protein SuperFamily

His-tRNA_synth
Gene Tree

Hars1

Diseases

2 with human HARS1 associations

				Human Disease	Mouse Models
				Charcot-Marie-Tooth disease, axonal type 2W IDs Charcot-Marie-Tooth disease, axonal type 2W DOID:0110162 OMIM:616625
				Usher syndrome type 3B IDs Usher syndrome type 3B DOID:0110842 ICD10CM:H35.5 OMIM:614504

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

9
Chemically induced (ENU)

1
Endonuclease-mediated

1
Gene trapped

5
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

27 strains or lines available

Mice homozygous for an ENU-induced mutation exhibit deafness.

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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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hars1

ZFIN hars

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All Sequences

56
RefSeq

2
UniProt

8
CCDS

CCDS29164.1

Ensembl

ENSMUSG00000001380 (Evidence)
NCBI Gene

15115

			Length	Strain/Species	Flank
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

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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)

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All nucleic 142

cDNA 141

Primer pair 1

Microarray probesets 4

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MGD-MRK-37124, MGI:7450909

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

TSS for Hars1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152979	Chr18:36916199-36916244 (-)	36 bp
Tssr152978	Chr18:36916166-36916194 (-)	78 bp
Tssr152977	Chr18:36916149-36916161 (-)	103 bp
Tssr152976	Chr18:36905424-36905438 (-)	10,827 bp
Tssr152975	Chr18:36905375-36905399 (-)	10,871 bp
Tssr152974	Chr18:36903237-36903249 (-)	13,015 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/19/2024 MGI 6.24