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

Gene ID: 3035, updated on 7-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 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
    4660..22483
    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, ENST00000504156.6
    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.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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