Human Gene HARS1 (ENST00000307633.7_4) from GENCODE V47lift37
  Description: histidyl-tRNA synthetase 1, transcript variant 4 (from RefSeq NM_001258042.3)
Gencode Transcript: ENST00000307633.7_4
Gencode Gene: ENSG00000170445.16_22
Transcript (Including UTRs)
   Position: hg19 chr5:140,053,491-140,070,968 Size: 17,478 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr5:140,053,842-140,070,889 Size: 17,048 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:140,053,491-140,070,968)mRNA (may differ from genome)Protein (449 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMGI
OMIMPubMedReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYHC_HUMAN
DESCRIPTION: RecName: Full=Histidine--tRNA ligase, cytoplasmic; EC=6.1.1.21; AltName: Full=Histidyl-tRNA synthetase; Short=HisRS;
CATALYTIC ACTIVITY: ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His).
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Brain, heart, liver and kidney.
DISEASE: Defects in HARS are a cause of Usher syndrome type 3B (USH3B) [MIM:614504]. USH3B is 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.
SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family.
SIMILARITY: Contains 1 WHEP-TRS domain.
SEQUENCE CAUTION: Sequence=CAA28956.1; Type=Frameshift; Positions=Several;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.22 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 826.29 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.2079-0.319 Picture PostScript Text
3' UTR -99.50351-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002314 - aa-tRNA-synt_IIb_cons-dom
IPR006195 - aa-tRNA-synth_II
IPR004154 - Anticodon-bd
IPR015807 - His-tRNA-ligase
IPR004516 - HisRS/HisZ
IPR009068 - S15_NS1_RNA-bd
IPR000738 - WHEP-TRS

Pfam Domains:
PF00458 - WHEP-TRS domain
PF03129 - Anticodon binding domain
PF12745 - Anticodon binding domain of tRNAs
PF13393 - Histidyl-tRNA synthetase

SCOP Domains:
47060 - S15/NS1 RNA-binding domain
47781 - RuvA domain 2-like
52954 - Class II aaRS ABD-related
55681 - Class II aaRS and biotin synthetases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1X59 - NMR MuPIT 4G84 - X-ray MuPIT 4G85 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12081
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004821 histidine-tRNA ligase activity
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0042802 identical protein binding

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006427 histidyl-tRNA aminoacylation
GO:0032543 mitochondrial translation

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK225776 - Homo sapiens mRNA for histidyl-tRNA synthetase variant, clone: FCC132E05.
AK303778 - Homo sapiens cDNA FLJ58562 complete cds, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
JD361090 - Sequence 342114 from Patent EP1572962.
BC080514 - Homo sapiens histidyl-tRNA synthetase, mRNA (cDNA clone MGC:99562 IMAGE:2821065), complete cds.
BC011807 - Homo sapiens histidyl-tRNA synthetase, mRNA (cDNA clone MGC:19592 IMAGE:4331277), complete cds.
AK000498 - Homo sapiens cDNA FLJ20491 fis, clone KAT08396, highly similar to SYH_HUMAN HISTIDYL-TRNA SYNTHETASE.
AK094406 - Homo sapiens cDNA FLJ37087 fis, clone BRACE2017108.
AK124831 - Homo sapiens cDNA FLJ42841 fis, clone BRCOC2003213, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
AK295219 - Homo sapiens cDNA FLJ53452 complete cds, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
X05345 - Human mRNA for histidyl-tRNA synthetase (HRS).
AK302295 - Homo sapiens cDNA FLJ58554 complete cds, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
JD450064 - Sequence 431088 from Patent EP1572962.
JD049685 - Sequence 30709 from Patent EP1572962.
JD375493 - Sequence 356517 from Patent EP1572962.
JD467825 - Sequence 448849 from Patent EP1572962.
JD480927 - Sequence 461951 from Patent EP1572962.
JD118409 - Sequence 99433 from Patent EP1572962.
JD049718 - Sequence 30742 from Patent EP1572962.
JD209592 - Sequence 190616 from Patent EP1572962.
JD356853 - Sequence 337877 from Patent EP1572962.
Z11518 - H.sapiens mRNA for histidyl-tRNA synthetase.
JD273854 - Sequence 254878 from Patent EP1572962.
AK293154 - Homo sapiens cDNA FLJ53703 complete cds, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
AK307669 - Homo sapiens cDNA, FLJ97617.
AY995220 - Homo sapiens histidyl-tRNA synthetase (HRS) mRNA, complete cds.
JF432166 - Synthetic construct Homo sapiens clone IMAGE:100073317 histidyl-tRNA synthetase (HARS) gene, encodes complete protein.
KJ896957 - Synthetic construct Homo sapiens clone ccsbBroadEn_06351 HARS gene, encodes complete protein.
AB527306 - Synthetic construct DNA, clone: pF1KB5235, Homo sapiens HARS gene for histidyl-tRNA synthetase, without stop codon, in Flexi system.
AK293531 - Homo sapiens cDNA FLJ59476 complete cds, highly similar to Histidyl-tRNA synthetase (EC 6.1.1.21).
AK055917 - Homo sapiens cDNA FLJ31355 fis, clone MESAN2000291, highly similar to HISTIDYL-TRNA SYNTHETASE (EC 6.1.1.21).
CU680062 - Synthetic construct Homo sapiens gateway clone IMAGE:100019732 5' read HARS mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P12081 (Reactome details) participates in the following event(s):

R-HSA-379844 histidine + tRNA(His) + ATP => His-tRNA(His) + AMP + pyrophosphate
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-379724 tRNA Aminoacylation
R-HSA-72766 Translation
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B4DHQ1, B4DY73, D6REN6, ENST00000307633.1, ENST00000307633.2, ENST00000307633.3, ENST00000307633.4, ENST00000307633.5, ENST00000307633.6, HARS, HARS1 , HARS1_HUMAN, HRS, J3KNE5, NM_001258042, P12081, uc317ocr.1
UCSC ID: ENST00000307633.7_4
RefSeq Accession: NM_001258042.3
Protein: P12081 (aka SYHC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.