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P49590

- SYHM_HUMAN

UniProt

P49590 - SYHM_HUMAN

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Protein

Probable histidine--tRNA ligase, mitochondrial

Gene
HARS2, HARSL, HARSR, HO3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Catalytic activityi

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

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. histidine-tRNA ligase activity Source: InterPro
  3. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. gene expression Source: Reactome
  2. histidyl-tRNA aminoacylation Source: InterPro
  3. translation Source: UniProtKB
  4. tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.1.1.21. 2681.
ReactomeiREACT_15302. 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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:4817. HARS2.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. cytoplasm Source: InterPro
  2. mitochondrial matrix Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001L → 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 Publication
VAR_069532
Natural varianti368 – 3681V → 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 Publication
VAR_069533

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi614926. phenotype.
Orphaneti2855. Perrault syndrome.
PharmGKBiPA29192.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3333Mitochondrion Reviewed predictionAdd
BLAST
Chaini34 – 506473Probable histidine--tRNA ligase, mitochondrialPRO_0000136336Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei67 – 671Phosphoserine1 Publication
Modified residuei444 – 4441N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiP49590.
PaxDbiP49590.
PeptideAtlasiP49590.
PRIDEiP49590.

PTM databases

PhosphoSiteiP49590.

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

ArrayExpressiP49590.
BgeeiP49590.
CleanExiHS_HARS2.
GenevestigatoriP49590.

Organism-specific databases

HPAiHPA035941.

Interactioni

Subunit structurei

Homodimer.1 Publication

Protein-protein interaction databases

BioGridi117006. 5 interactions.
DIPiDIP-59626N.
IntActiP49590. 3 interactions.
STRINGi9606.ENSP00000230771.

Structurei

3D structure databases

ProteinModelPortaliP49590.
SMRiP49590. Positions 56-505.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0124.
HOGENOMiHOG000018075.
HOVERGENiHBG002731.
InParanoidiP49590.
KOiK01892.
OMAiRGDYLIR.
OrthoDBiEOG7WMCJC.
PhylomeDBiP49590.
TreeFamiTF300652.

Family and domain databases

Gene3Di3.40.50.800. 1 hit.
InterProiIPR002314. aa-tRNA-synt_IIb_cons-dom.
IPR006195. aa-tRNA-synth_II.
IPR004154. Anticodon-bd.
IPR015807. His-tRNA-ligase.
IPR004516. HisRS/HisZ.
[Graphical view]
PANTHERiPTHR11476. PTHR11476. 1 hit.
PfamiPF03129. HGTP_anticodon. 1 hit.
PF00587. tRNA-synt_2b. 1 hit.
[Graphical view]
PIRSFiPIRSF001549. His-tRNA_synth. 1 hit.
SUPFAMiSSF52954. SSF52954. 1 hit.
TIGRFAMsiTIGR00442. hisS. 1 hit.
PROSITEiPS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view]

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. Align

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

MPLLGLLPRR AWASLLSQLL RPPCASCTGA VRCQSQVAEA VLTSQLKAHQ    50
EKPNFIIKTP KGTRDLSPQH MVVREKILDL VISCFKRHGA KGMDTPAFEL 100
KETLTEKYGE DSGLMYDLKD QGGELLSLRY DLTVPFARYL AMNKVKKMKR 150
YHVGKVWRRE SPTIVQGRYR EFCQCDFDIA GQFDPMIPDA ECLKIMCEIL 200
SGLQLGDFLI KVNDRRIVDG MFAVCGVPES KFRAICSSID KLDKMAWKDV 250
RHEMVVKKGL APEVADRIGD YVQCHGGVSL VEQMFQDPRL SQNKQALEGL 300
GDLKLLFEYL TLFGIADKIS FDLSLARGLD YYTGVIYEAV LLQTPTQAGE 350
EPLNVGSVAA GGRYDGLVGM FDPKGHKVPC VGLSIGVERI FYIVEQRMKT 400
KGEKVRTTET QVFVATPQKN FLQERLKLIA ELWDSGIKAE MLYKNNPKLL 450
TQLHYCESTG IPLVVIIGEQ ELKEGVIKIR SVASREEVAI KRENFVAEIQ 500
KRLSES 506
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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti200 – 2001L → 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 Publication
VAR_069532
Natural varianti368 – 3681V → 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 Publication
VAR_069533

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei37 – 6125Missing in isoform 2. VSP_055133Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
PIRiI38913.
I38915.
RefSeqiNP_001265660.1. NM_001278731.1.
NP_001265661.1. NM_001278732.1.
NP_036340.1. NM_012208.3.
UniGeneiHs.432560.

Genome annotation databases

EnsembliENST00000230771; ENSP00000230771; ENSG00000112855.
ENST00000508522; ENSP00000423616; ENSG00000112855.
GeneIDi23438.
KEGGihsa:23438.
UCSCiuc003lgx.3. human. [P49590-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS4238.1. [P49590-1 ]
PIRi I38913.
I38915.
RefSeqi NP_001265660.1. NM_001278731.1.
NP_001265661.1. NM_001278732.1.
NP_036340.1. NM_012208.3.
UniGenei Hs.432560.

3D structure databases

ProteinModelPortali P49590.
SMRi P49590. Positions 56-505.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117006. 5 interactions.
DIPi DIP-59626N.
IntActi P49590. 3 interactions.
STRINGi 9606.ENSP00000230771.

PTM databases

PhosphoSitei P49590.

Proteomic databases

MaxQBi P49590.
PaxDbi P49590.
PeptideAtlasi P49590.
PRIDEi P49590.

Protocols and materials databases

DNASUi 23438.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000230771 ; ENSP00000230771 ; ENSG00000112855 .
ENST00000508522 ; ENSP00000423616 ; ENSG00000112855 .
GeneIDi 23438.
KEGGi hsa:23438.
UCSCi uc003lgx.3. human. [P49590-1 ]

Organism-specific databases

CTDi 23438.
GeneCardsi GC05P140095.
HGNCi HGNC:4817. HARS2.
HPAi HPA035941.
MIMi 600783. gene.
614926. phenotype.
neXtProti NX_P49590.
Orphaneti 2855. Perrault syndrome.
PharmGKBi PA29192.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0124.
HOGENOMi HOG000018075.
HOVERGENi HBG002731.
InParanoidi P49590.
KOi K01892.
OMAi RGDYLIR.
OrthoDBi EOG7WMCJC.
PhylomeDBi P49590.
TreeFami TF300652.

Enzyme and pathway databases

BRENDAi 6.1.1.21. 2681.
Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.

Miscellaneous databases

GeneWikii HARS2.
GenomeRNAii 23438.
NextBioi 35471063.
PROi P49590.
SOURCEi Search...

Gene expression databases

ArrayExpressi P49590.
Bgeei P49590.
CleanExi HS_HARS2.
Genevestigatori P49590.

Family and domain databases

Gene3Di 3.40.50.800. 1 hit.
InterProi IPR002314. aa-tRNA-synt_IIb_cons-dom.
IPR006195. aa-tRNA-synth_II.
IPR004154. Anticodon-bd.
IPR015807. His-tRNA-ligase.
IPR004516. HisRS/HisZ.
[Graphical view ]
PANTHERi PTHR11476. PTHR11476. 1 hit.
Pfami PF03129. HGTP_anticodon. 1 hit.
PF00587. tRNA-synt_2b. 1 hit.
[Graphical view ]
PIRSFi PIRSF001549. His-tRNA_synth. 1 hit.
SUPFAMi SSF52954. SSF52954. 1 hit.
TIGRFAMsi TIGR00442. hisS. 1 hit.
PROSITEi PS50862. AA_TRNA_LIGASE_II. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Urinary bladder.
  3. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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] (ISOFORM 1).
    Tissue: Brain and Skin.
  6. "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.
  7. "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].
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "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].
  10. "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.

Entry informationi

Entry nameiSYHM_HUMAN
AccessioniPrimary (citable) accession number: P49590
Secondary accession number(s): B4DDY8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: September 3, 2014
This is version 125 of the entry and version 1 of the sequence. [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. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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