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Protein

Probable histidine--tRNA ligase, mitochondrial

Gene

HARS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-histidine + tRNA(His) = AMP + diphosphate + L-histidyl-tRNA(His).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei158L-histidineBy similarity1
Binding sitei174L-histidineBy similarity1
Binding sitei178L-histidineBy similarity1
Binding sitei327L-histidineBy similarity1

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • histidine-tRNA ligase activity Source: WormBase
  • identical protein binding Source: GO_Central
  • protein homodimerization activity Source: WormBase
  • RNA binding Source: UniProtKB

GO - Biological processi

  • histidyl-tRNA aminoacylation Source: WormBase
  • translation Source: UniProtKB
  • tRNA aminoacylation for protein translation Source: Reactome

Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.1.1.21 2681
ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Names & Taxonomyi

Protein namesi
Recommended name:
Probable histidine--tRNA ligase, mitochondrial (EC:6.1.1.21)
Alternative name(s):
Histidine--tRNA ligase-like
Histidyl-tRNA synthetase
Short name:
HisRS
Gene namesi
Name:HARS2
Synonyms:HARSL, HARSR, HO3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000112855.14
HGNCiHGNC:4817 HARS2
MIMi600783 gene
neXtProtiNX_P49590

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Perrault syndrome 2 (PRLTS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
See also OMIM:614926
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069532200L → V in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397515410EnsemblClinVar.1
Natural variantiVAR_069533368V → L in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs376177973EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

DisGeNETi23438
MalaCardsiHARS2
MIMi614926 phenotype
OpenTargetsiENSG00000112855
Orphaneti2855 Perrault syndrome
PharmGKBiPA29192

Polymorphism and mutation databases

BioMutaiHARS2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 33MitochondrionSequence analysisAdd BLAST33
ChainiPRO_000013633634 – 506Probable histidine--tRNA ligase, mitochondrialAdd BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei67PhosphoserineCombined sources1
Modified residuei444N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP49590
MaxQBiP49590
PaxDbiP49590
PeptideAtlasiP49590
PRIDEiP49590
ProteomicsDBi56026

PTM databases

iPTMnetiP49590
PhosphoSitePlusiP49590

Expressioni

Tissue specificityi

A high level expression is seen in the heart, kidney and skeletal muscle while a lower level expression is seen in the brain and liver.

Gene expression databases

BgeeiENSG00000112855 Expressed in 218 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_HARS2
ExpressionAtlasiP49590 baseline and differential
GenevisibleiP49590 HS

Organism-specific databases

HPAiHPA035941

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AGTRAPQ6RW133EBI-3909030,EBI-741181

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117006, 62 interactors
DIPiDIP-59626N
IntActiP49590, 12 interactors
MINTiP49590
STRINGi9606.ENSP00000230771

Structurei

3D structure databases

ProteinModelPortaliP49590
SMRiP49590
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni131 – 133L-histidine bindingBy similarity3
Regioni331 – 332L-histidine bindingBy similarity2

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1936 Eukaryota
COG0124 LUCA
GeneTreeiENSGT00390000005922
HOGENOMiHOG000018075
HOVERGENiHBG002731
InParanoidiP49590
KOiK01892
OMAiARYVVMH
OrthoDBiEOG091G05P3
PhylomeDBiP49590
TreeFamiTF300652

Family and domain databases

CDDicd00859 HisRS_anticodon, 1 hit
Gene3Di3.40.50.800, 1 hit
InterProiView protein in InterPro
IPR006195 aa-tRNA-synth_II
IPR004154 Anticodon-bd
IPR036621 Anticodon-bd_dom_sf
IPR015807 His-tRNA-ligase
IPR004516 HisRS/HisZ
IPR033656 HisRS_anticodon
PANTHERiPTHR11476 PTHR11476, 1 hit
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 1 hit
PIRSFiPIRSF001549 His-tRNA_synth, 1 hit
TIGRFAMsiTIGR00442 hisS, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49590-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPLLGLLPRR AWASLLSQLL RPPCASCTGA VRCQSQVAEA VLTSQLKAHQ
60 70 80 90 100
EKPNFIIKTP KGTRDLSPQH MVVREKILDL VISCFKRHGA KGMDTPAFEL
110 120 130 140 150
KETLTEKYGE DSGLMYDLKD QGGELLSLRY DLTVPFARYL AMNKVKKMKR
160 170 180 190 200
YHVGKVWRRE SPTIVQGRYR EFCQCDFDIA GQFDPMIPDA ECLKIMCEIL
210 220 230 240 250
SGLQLGDFLI KVNDRRIVDG MFAVCGVPES KFRAICSSID KLDKMAWKDV
260 270 280 290 300
RHEMVVKKGL APEVADRIGD YVQCHGGVSL VEQMFQDPRL SQNKQALEGL
310 320 330 340 350
GDLKLLFEYL TLFGIADKIS FDLSLARGLD YYTGVIYEAV LLQTPTQAGE
360 370 380 390 400
EPLNVGSVAA GGRYDGLVGM FDPKGHKVPC VGLSIGVERI FYIVEQRMKT
410 420 430 440 450
KGEKVRTTET QVFVATPQKN FLQERLKLIA ELWDSGIKAE MLYKNNPKLL
460 470 480 490 500
TQLHYCESTG IPLVVIIGEQ ELKEGVIKIR SVASREEVAI KRENFVAEIQ

KRLSES
Length:506
Mass (Da):56,888
Last modified:February 1, 1996 - v1
Checksum:iE1CE879837AE26E7
GO
Isoform 2 (identifier: P49590-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-61: Missing.

Show »
Length:481
Mass (Da):54,115
Checksum:i26B2276C1B73911C
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5P7A0A2R8Y5P7_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
512Annotation score:
B4DQ67B4DQ67_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
334Annotation score:
D6RB22D6RB22_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
399Annotation score:
D6RJE6D6RJE6_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
293Annotation score:
A0A2R8Y6I1A0A2R8Y6I1_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
436Annotation score:
A0A2R8Y3N3A0A2R8Y3N3_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
473Annotation score:
A0A2R8Y5E8A0A2R8Y5E8_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
219Annotation score:
A0A2R8Y4X6A0A2R8Y4X6_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
160Annotation score:
D6R9M5D6R9M5_HUMAN
Probable histidine--tRNA ligase, mi...
HARS2
99Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069532200L → V in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs397515410EnsemblClinVar.1
Natural variantiVAR_069533368V → L in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs376177973EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05513337 – 61Missing in isoform 2. 1 PublicationAdd BLAST25

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U18936 Genomic DNA Translation: AAA73972.1
U18937 mRNA Translation: AAA73974.1
AK293390 mRNA Translation: BAG56899.1
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62019.1
BC007680 mRNA Translation: AAH07680.1
BC014982 mRNA Translation: AAH14982.1
CCDSiCCDS4238.1 [P49590-1]
CCDS64267.1 [P49590-2]
PIRiI38913
I38915
RefSeqiNP_001265660.1, NM_001278731.1 [P49590-2]
NP_001265661.1, NM_001278732.1
NP_036340.1, NM_012208.3 [P49590-1]
UniGeneiHs.432560

Genome annotation databases

EnsembliENST00000230771; ENSP00000230771; ENSG00000112855 [P49590-1]
ENST00000508522; ENSP00000423616; ENSG00000112855 [P49590-2]
ENST00000642231; ENSP00000494569; ENSG00000112855 [P49590-1]
ENST00000645749; ENSP00000494296; ENSG00000112855 [P49590-1]
GeneIDi23438
KEGGihsa:23438
UCSCiuc003lgx.5 human [P49590-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U18936 Genomic DNA Translation: AAA73972.1
U18937 mRNA Translation: AAA73974.1
AK293390 mRNA Translation: BAG56899.1
AC116353 Genomic DNA No translation available.
CH471062 Genomic DNA Translation: EAW62019.1
BC007680 mRNA Translation: AAH07680.1
BC014982 mRNA Translation: AAH14982.1
CCDSiCCDS4238.1 [P49590-1]
CCDS64267.1 [P49590-2]
PIRiI38913
I38915
RefSeqiNP_001265660.1, NM_001278731.1 [P49590-2]
NP_001265661.1, NM_001278732.1
NP_036340.1, NM_012208.3 [P49590-1]
UniGeneiHs.432560

3D structure databases

ProteinModelPortaliP49590
SMRiP49590
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117006, 62 interactors
DIPiDIP-59626N
IntActiP49590, 12 interactors
MINTiP49590
STRINGi9606.ENSP00000230771

PTM databases

iPTMnetiP49590
PhosphoSitePlusiP49590

Polymorphism and mutation databases

BioMutaiHARS2

Proteomic databases

EPDiP49590
MaxQBiP49590
PaxDbiP49590
PeptideAtlasiP49590
PRIDEiP49590
ProteomicsDBi56026

Protocols and materials databases

DNASUi23438
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230771; ENSP00000230771; ENSG00000112855 [P49590-1]
ENST00000508522; ENSP00000423616; ENSG00000112855 [P49590-2]
ENST00000642231; ENSP00000494569; ENSG00000112855 [P49590-1]
ENST00000645749; ENSP00000494296; ENSG00000112855 [P49590-1]
GeneIDi23438
KEGGihsa:23438
UCSCiuc003lgx.5 human [P49590-1]

Organism-specific databases

CTDi23438
DisGeNETi23438
EuPathDBiHostDB:ENSG00000112855.14
GeneCardsiHARS2
HGNCiHGNC:4817 HARS2
HPAiHPA035941
MalaCardsiHARS2
MIMi600783 gene
614926 phenotype
neXtProtiNX_P49590
OpenTargetsiENSG00000112855
Orphaneti2855 Perrault syndrome
PharmGKBiPA29192
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1936 Eukaryota
COG0124 LUCA
GeneTreeiENSGT00390000005922
HOGENOMiHOG000018075
HOVERGENiHBG002731
InParanoidiP49590
KOiK01892
OMAiARYVVMH
OrthoDBiEOG091G05P3
PhylomeDBiP49590
TreeFamiTF300652

Enzyme and pathway databases

BRENDAi6.1.1.21 2681
ReactomeiR-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

GeneWikiiHARS2
GenomeRNAii23438
PROiPR:P49590
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112855 Expressed in 218 organ(s), highest expression level in small intestine Peyer's patch
CleanExiHS_HARS2
ExpressionAtlasiP49590 baseline and differential
GenevisibleiP49590 HS

Family and domain databases

CDDicd00859 HisRS_anticodon, 1 hit
Gene3Di3.40.50.800, 1 hit
InterProiView protein in InterPro
IPR006195 aa-tRNA-synth_II
IPR004154 Anticodon-bd
IPR036621 Anticodon-bd_dom_sf
IPR015807 His-tRNA-ligase
IPR004516 HisRS/HisZ
IPR033656 HisRS_anticodon
PANTHERiPTHR11476 PTHR11476, 1 hit
PfamiView protein in Pfam
PF03129 HGTP_anticodon, 1 hit
PIRSFiPIRSF001549 His-tRNA_synth, 1 hit
TIGRFAMsiTIGR00442 hisS, 1 hit
PROSITEiView protein in PROSITE
PS50862 AA_TRNA_LIGASE_II, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSYHM_HUMAN
AccessioniPrimary (citable) accession number: P49590
Secondary accession number(s): B4DDY8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: November 7, 2018
This is version 163 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  6. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
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