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    HARS histidyl-tRNA synthetase [ Homo sapiens (human) ]

    Gene ID: 3035, updated on 17-Jun-2019

    Summary

    Official Symbol
    HARSprovided by HGNC
    Official Full Name
    histidyl-tRNA synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:4816
    See related
    Ensembl:ENSG00000170445 MIM:142810
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HRS; CMT2W; USH3B
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 24.1), skin (RPKM 18.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See HARS in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (140673904..140691727, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (140053490..140071681, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene microRNA 3655 Neighboring gene IK cytokine Neighboring gene WD repeat domain 55 Neighboring gene DND microRNA-mediated repression inhibitor 1 Neighboring gene histidyl-tRNA synthetase 2, mitochondrial Neighboring gene zinc finger matrin-type 2 Neighboring gene uncharacterized LOC105378198 Neighboring gene vault RNA 1-1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20491

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    histidine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    histidine-tRNA ligase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histidine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    identical protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    histidyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    translation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    histidine--tRNA ligase, cytoplasmic
    Names
    HisRS
    Jo-1 antigen
    histidine translase
    NP_001244969.1
    NP_001244970.1
    NP_001244971.1
    NP_001276021.1
    NP_001276022.1
    NP_001276023.1
    NP_002100.2

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032158.1 RefSeqGene

      Range
      5017..22482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258040.2NP_001244969.1  histidine--tRNA ligase, cytoplasmic isoform 2

      See identical proteins and their annotated locations for NP_001244969.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK225776, AK302295, DC394573
      Consensus CDS
      CCDS58976.1
      UniProtKB/Swiss-Prot
      P12081
      Related
      ENSP00000411511.2, ENST00000438307.6
      Conserved Domains (2) summary
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...
      cl28413
      Location:56461
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    2. NM_001258041.2NP_001244970.1  histidine--tRNA ligase, cytoplasmic isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AK225776, DC394573
      Consensus CDS
      CCDS58978.1
      UniProtKB/Swiss-Prot
      P12081
      Related
      ENSP00000387893.2, ENST00000457527.6
      Conserved Domains (4) summary
      COG0124
      Location:56481
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
      cd00773
      Location:69374
      HisRS-like_core; Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain. HisRS is a homodimer. It is responsible for the attachment of histidine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
      cd00859
      Location:388479
      HisRS_anticodon; HisRS Histidyl-anticodon binding domain. HisRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...
    3. NM_001258042.2NP_001244971.1  histidine--tRNA ligase, cytoplasmic isoform 4

      See identical proteins and their annotated locations for NP_001244971.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC116353, AK225776, AK295219, DC394573
      Consensus CDS
      CCDS58977.1
      UniProtKB/Swiss-Prot
      P12081
      Related
      ENSP00000304668.3, ENST00000307633.7
      Conserved Domains (2) summary
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...
      cl28413
      Location:56441
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    4. NM_001289092.1NP_001276021.1  histidine--tRNA ligase, cytoplasmic isoform 5

      See identical proteins and their annotated locations for NP_001276021.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The encoded protein (isoform 5) is shorter, compared to isoform 1.
      Source sequence(s)
      AK225776, AK293154, DC394573
      Consensus CDS
      CCDS75324.1
      UniProtKB/TrEMBL
      B4DDD8
      Related
      ENSP00000411085.2, ENST00000415192.6
      Conserved Domains (4) summary
      COG0124
      Location:56427
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
      cd00773
      Location:69320
      HisRS-like_core; Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain. HisRS is a homodimer. It is responsible for the attachment of histidine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
      cd00859
      Location:334425
      HisRS_anticodon; HisRS Histidyl-anticodon binding domain. HisRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...
    5. NM_001289093.1NP_001276022.1  histidine--tRNA ligase, cytoplasmic isoform 6

      See identical proteins and their annotated locations for NP_001276022.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three alternate in-frame exons in the 5' coding region, compared to variant 1. The encoded protein (isoform 6) is shorter, compared to isoform 1.
      Source sequence(s)
      AK303778, DC394573
      Consensus CDS
      CCDS75323.1
      UniProtKB/TrEMBL
      B4E1C5
      Related
      ENSP00000393244.2, ENST00000431330.6
      Conserved Domains (2) summary
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...
      cl28413
      Location:61387
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
    6. NM_001289094.1NP_001276023.1  histidine--tRNA ligase, cytoplasmic isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded protein (isoform 7) lacks an internal region and is shorter, compared to isoform 1.
      Source sequence(s)
      AC116353, AK307669
      Related
      ENSP00000430063.1, ENST00000504366.5
      Conserved Domains (4) summary
      COG0124
      Location:27472
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
      cd00773
      Location:40365
      HisRS-like_core; Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain. HisRS is a homodimer. It is responsible for the attachment of histidine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
      cd00859
      Location:379470
      HisRS_anticodon; HisRS Histidyl-anticodon binding domain. HisRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
      cl00349
      Location:220
      S15_NS1_EPRS_RNA-bind; S15/NS1/EPRS_RNA-binding domain. This short domain consists of a helix-turn-helix structure, which can bind to several types of RNA. It is found in the ribosomal protein S15, the influenza A viral nonstructural protein (NSA) and in several eukaryotic ...
    7. NM_002109.6NP_002100.2  histidine--tRNA ligase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_002100.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK225776, Z11518
      Consensus CDS
      CCDS4237.1
      UniProtKB/Swiss-Prot
      P12081
      Related
      ENSP00000425634.1, ENST00000504156.7
      Conserved Domains (4) summary
      COG0124
      Location:56501
      HisS; Histidyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]
      cd00773
      Location:69394
      HisRS-like_core; Class II Histidinyl-tRNA synthetase (HisRS)-like catalytic core domain. HisRS is a homodimer. It is responsible for the attachment of histidine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent ...
      cd00859
      Location:408499
      HisRS_anticodon; HisRS Histidyl-anticodon binding domain. HisRS belongs to class II aminoacyl-tRNA synthetases (aaRS). This alignment contains the anticodon binding domain, which is responsible for specificity in tRNA-binding, so that the activated amino acid is ...
      cd00938
      Location:549
      HisRS_RNA; HisRS_RNA binding domain. This short RNA-binding domain is found at the N-terminus of HisRS in several higher eukaryote aminoacyl-tRNA synthetases (aaRSs). This domain consists of a helix- turn- helix structure, which is similar to other RNA-binding ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      140673904..140691727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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