PTRD1_HUMAN
ID PTRD1_HUMAN Reviewed; 140 AA.
AC Q6GMV3;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Putative peptidyl-tRNA hydrolase PTRHD1;
DE EC=3.1.1.29;
DE AltName: Full=Peptidyl-tRNA hydrolase domain-containing protein 1;
GN Name=PTRHD1; Synonyms=C2orf79;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Neuroblastoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [5]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [6]
RP VARIANT TYR-52.
RX PubMed=27134041; DOI=10.1002/mds.26627;
RA Jaberi E., Rohani M., Shahidi G.A., Nafissi S., Arefian E., Soleimani M.,
RA Moghadam A., Arzenani M.K., Keramatian F., Klotzle B., Fan J.B., Turk C.,
RA Steemers F., Elahi E.;
RT "Mutation in ADORA1 identified as likely cause of early-onset parkinsonism
RT and cognitive dysfunction.";
RL Mov. Disord. 31:1004-1011(2016).
RN [7]
RP VARIANT TYR-53.
RX PubMed=27753167; DOI=10.1002/mds.26824;
RA Khodadadi H., Azcona L.J., Aghamollaii V., Omrani M.D., Garshasbi M.,
RA Taghavi S., Tafakhori A., Shahidi G.A., Jamshidi J., Darvish H.,
RA Paisan-Ruiz C.;
RT "PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual
RT disability and parkinsonism.";
RL Mov. Disord. 32:287-291(2017).
CC -!- CATALYTIC ACTIVITY:
CC Reaction=an N-acyl-L-alpha-aminoacyl-tRNA + H2O = a tRNA + an N-acyl-L-
CC amino acid + H(+); Xref=Rhea:RHEA:54448, Rhea:RHEA-COMP:10123,
CC Rhea:RHEA-COMP:13883, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378,
CC ChEBI:CHEBI:59874, ChEBI:CHEBI:78442, ChEBI:CHEBI:138191;
CC EC=3.1.1.29;
CC -!- INTERACTION:
CC Q6GMV3; Q13156: RPA4; NbExp=3; IntAct=EBI-12807218, EBI-2856301;
CC Q6GMV3; Q969E8: TSR2; NbExp=3; IntAct=EBI-12807218, EBI-746981;
CC -!- SIMILARITY: Belongs to the PTH2 family. PTRHD1 subfamily.
CC {ECO:0000305}.
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DR EMBL; CH471053; EAX00745.1; -; Genomic_DNA.
DR EMBL; BC073803; AAH73803.1; -; mRNA.
DR CCDS; CCDS33156.1; -.
DR RefSeq; NP_001013685.1; NM_001013663.1.
DR AlphaFoldDB; Q6GMV3; -.
DR SMR; Q6GMV3; -.
DR BioGRID; 133896; 39.
DR IntAct; Q6GMV3; 4.
DR STRING; 9606.ENSP00000330389; -.
DR GlyGen; Q6GMV3; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q6GMV3; -.
DR PhosphoSitePlus; Q6GMV3; -.
DR BioMuta; PTRHD1; -.
DR DMDM; 74736452; -.
DR EPD; Q6GMV3; -.
DR jPOST; Q6GMV3; -.
DR MassIVE; Q6GMV3; -.
DR MaxQB; Q6GMV3; -.
DR PaxDb; Q6GMV3; -.
DR PeptideAtlas; Q6GMV3; -.
DR PRIDE; Q6GMV3; -.
DR ProteomicsDB; 66305; -.
DR TopDownProteomics; Q6GMV3; -.
DR Antibodypedia; 13171; 16 antibodies from 9 providers.
DR DNASU; 391356; -.
DR Ensembl; ENST00000328379.6; ENSP00000330389.4; ENSG00000184924.6.
DR GeneID; 391356; -.
DR KEGG; hsa:391356; -.
DR MANE-Select; ENST00000328379.6; ENSP00000330389.4; NM_001013663.2; NP_001013685.1.
DR UCSC; uc002rfm.4; human.
DR CTD; 391356; -.
DR DisGeNET; 391356; -.
DR GeneCards; PTRHD1; -.
DR HGNC; HGNC:33782; PTRHD1.
DR HPA; ENSG00000184924; Low tissue specificity.
DR MIM; 617342; gene.
DR neXtProt; NX_Q6GMV3; -.
DR OpenTargets; ENSG00000184924; -.
DR PharmGKB; PA162379611; -.
DR VEuPathDB; HostDB:ENSG00000184924; -.
DR eggNOG; KOG3305; Eukaryota.
DR GeneTree; ENSGT00500000044959; -.
DR HOGENOM; CLU_119261_0_1_1; -.
DR InParanoid; Q6GMV3; -.
DR OMA; CLALKPC; -.
DR OrthoDB; 1557083at2759; -.
DR PhylomeDB; Q6GMV3; -.
DR TreeFam; TF353726; -.
DR BRENDA; 3.1.1.29; 2681.
DR PathwayCommons; Q6GMV3; -.
DR SignaLink; Q6GMV3; -.
DR BioGRID-ORCS; 391356; 9 hits in 1075 CRISPR screens.
DR GenomeRNAi; 391356; -.
DR Pharos; Q6GMV3; Tdark.
DR PRO; PR:Q6GMV3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6GMV3; protein.
DR Bgee; ENSG00000184924; Expressed in ileal mucosa and 184 other tissues.
DR Genevisible; Q6GMV3; HS.
DR GO; GO:0004045; F:aminoacyl-tRNA hydrolase activity; IEA:UniProtKB-EC.
DR Gene3D; 3.40.1490.10; -; 1.
DR InterPro; IPR023476; Pep_tRNA_hydro_II_dom_sf.
DR InterPro; IPR002833; PTH2.
DR InterPro; IPR042237; PTRHD1.
DR PANTHER; PTHR46194; PTHR46194; 1.
DR Pfam; PF01981; PTH2; 1.
DR SUPFAM; SSF102462; SSF102462; 1.
PE 1: Evidence at protein level;
KW Hydrolase; Reference proteome.
FT CHAIN 1..140
FT /note="Putative peptidyl-tRNA hydrolase PTRHD1"
FT /id="PRO_0000321818"
FT VARIANT 52
FT /note="C -> Y (found in a family with early-onset autosomal
FT recessive parkinsonism and intellectual disability; unknown
FT pathological significance; dbSNP:rs781442277)"
FT /evidence="ECO:0000269|PubMed:27134041"
FT /id="VAR_078547"
FT VARIANT 53
FT /note="H -> Y (found in a family with early-onset autosomal
FT recessive parkinsonism and intellectual disability; unknown
FT pathological significance; dbSNP:rs1057519631)"
FT /evidence="ECO:0000269|PubMed:27753167"
FT /id="VAR_078548"
SQ SEQUENCE 140 AA; 15805 MW; 3AD1C82F3A9CF80B CRC64;
MHRGVGPAFR VVRKMAASGA EPQVLVQYLV LRKDLSQAPF SWPAGALVAQ ACHAATAALH
THRDHPHTAA YLQELGRMRK VVLEAPDETT LKELAETLQQ KNIDHMLWLE QPENIATCIA
LRPYPKEEVG QYLKKFRLFK
