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P49590 (SYHM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HARS2
Synonyms:HARSL, HARSR, HO3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length506 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Subunit structure

Homodimer. Ref.7

Subcellular location

Mitochondrion matrix By similarity.

Tissue specificity

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.

Involvement in disease

Perrault syndrome 2 (PRLTS2) [MIM:614926]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the class-II aminoacyl-tRNA synthetase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3333Mitochondrion Potential
Chain34 – 506473Probable histidine--tRNA ligase, mitochondrial
PRO_0000136336

Amino acid modifications

Modified residue671Phosphoserine Ref.3
Modified residue4441N6-acetyllysine Ref.4

Natural variations

Natural variant2001L → V in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. Ref.7
VAR_069532
Natural variant3681V → L in PRLTS2; the mutant protein is expressed, can dimerize and localizes to the mitochondria; has significantly decreased enzymatic activity compared to wild-type. Ref.7
VAR_069533

Sequences

Sequence LengthMass (Da)Tools
P49590 [UniParc].

Last modified February 1, 1996. Version 1.
Checksum: E1CE879837AE26E7

FASTA50656,888
        10         20         30         40         50         60 
MPLLGLLPRR AWASLLSQLL RPPCASCTGA VRCQSQVAEA VLTSQLKAHQ EKPNFIIKTP 

        70         80         90        100        110        120 
KGTRDLSPQH MVVREKILDL VISCFKRHGA KGMDTPAFEL KETLTEKYGE DSGLMYDLKD 

       130        140        150        160        170        180 
QGGELLSLRY DLTVPFARYL AMNKVKKMKR YHVGKVWRRE SPTIVQGRYR EFCQCDFDIA 

       190        200        210        220        230        240 
GQFDPMIPDA ECLKIMCEIL SGLQLGDFLI KVNDRRIVDG MFAVCGVPES KFRAICSSID 

       250        260        270        280        290        300 
KLDKMAWKDV RHEMVVKKGL APEVADRIGD YVQCHGGVSL VEQMFQDPRL SQNKQALEGL 

       310        320        330        340        350        360 
GDLKLLFEYL TLFGIADKIS FDLSLARGLD YYTGVIYEAV LLQTPTQAGE EPLNVGSVAA 

       370        380        390        400        410        420 
GGRYDGLVGM FDPKGHKVPC VGLSIGVERI FYIVEQRMKT KGEKVRTTET QVFVATPQKN 

       430        440        450        460        470        480 
FLQERLKLIA ELWDSGIKAE MLYKNNPKLL TQLHYCESTG IPLVVIIGEQ ELKEGVIKIR 

       490        500 
SVASREEVAI KRENFVAEIQ KRLSES 

« Hide

References

« Hide 'large scale' references
[1]"A novel gene oriented in a head-to-head configuration with the human histidyl-tRNA synthetase (HRS) gene encodes an mRNA that predicts a polypeptide homologous to HRS."
O'Hanlon T.P., Raben N., Miller F.W.
Biochem. Biophys. Res. Commun. 210:556-566(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain and Skin.
[3]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-67, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[4]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-444, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]"Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome."
Pierce S.B., Chisholm K.M., Lynch E.D., Lee M.K., Walsh T., Opitz J.M., Li W., Klevit R.E., King M.C.
Proc. Natl. Acad. Sci. U.S.A. 108:6543-6548(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PRLTS2 VAL-200 AND LEU-368, CHARACTERIZATION OF VARIANTS PRLTS2 VAL-200 AND LEU-368, SUBUNIT.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U18936 Genomic DNA. Translation: AAA73972.1.
U18937 mRNA. Translation: AAA73974.1.
BC007680 mRNA. Translation: AAH07680.1.
BC014982 mRNA. Translation: AAH14982.1.
PIRI38913.
I38915.
RefSeqNP_001265660.1. NM_001278731.1.
NP_001265661.1. NM_001278732.1.
NP_036340.1. NM_012208.3.
UniGeneHs.432560.

3D structure databases

ProteinModelPortalP49590.
SMRP49590. Positions 56-505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117006. 5 interactions.
DIPDIP-59626N.
IntActP49590. 3 interactions.
STRING9606.ENSP00000230771.

PTM databases

PhosphoSiteP49590.

Proteomic databases

PaxDbP49590.
PeptideAtlasP49590.
PRIDEP49590.

Protocols and materials databases

DNASU23438.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230771; ENSP00000230771; ENSG00000112855.
GeneID23438.
KEGGhsa:23438.
UCSCuc003lgx.3. human.

Organism-specific databases

CTD23438.
GeneCardsGC05P140095.
HGNCHGNC:4817. HARS2.
HPAHPA035941.
MIM600783. gene.
614926. phenotype.
neXtProtNX_P49590.
Orphanet2855. Perrault syndrome.
PharmGKBPA29192.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0124.
HOGENOMHOG000018075.
HOVERGENHBG002731.
InParanoidP49590.
KOK01892.
OMANKIKRAC.
OrthoDBEOG7WMCJC.
PhylomeDBP49590.
TreeFamTF300652.

Enzyme and pathway databases

BRENDA6.1.1.21. 2681.
ReactomeREACT_71. Gene Expression.

Gene expression databases

ArrayExpressP49590.
BgeeP49590.
CleanExHS_HARS2.
GenevestigatorP49590.

Family and domain databases

Gene3D3.40.50.800. 1 hit.
InterProIPR002314. aa-tRNA-synt_IIb_cons-dom.
IPR006195. aa-tRNA-synth_II.
IPR004154. Anticodon-bd.
IPR015807. His-tRNA-ligase.
IPR004516. HisRS/HisZ.
[Graphical view]
PANTHERPTHR11476. PTHR11476. 1 hit.
PfamPF03129. HGTP_anticodon. 1 hit.
PF00587. tRNA-synt_2b. 1 hit.
[Graphical view]
PIRSFPIRSF001549. His-tRNA_synth. 1 hit.
SUPFAMSSF52954. SSF52954. 1 hit.
TIGRFAMsTIGR00442. hisS. 1 hit.
PROSITEPS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHARS2.
GenomeRNAi23438.
NextBio45705.
PROP49590.
SOURCESearch...

Entry information

Entry nameSYHM_HUMAN
AccessionPrimary (citable) accession number: P49590
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: April 16, 2014
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Aminoacyl-tRNA synthetases

List of aminoacyl-tRNA synthetase entries