PTRHD1

Protein identityUniProt · HPA

UniProt accession

Q6GMV3

Gene

PTRHD1

Ensembl

ENSG00000184924

Chromosome

2

Canonical length

140 aa

Protein class

Enzymes, Predicted intracellular proteins

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

140 residues, UniProt reviewed canonical sequence.

>Q6GMV3|PTRHD1
     1  MHRGVGPAFR VVRKMAASGA EPQVLVQYLV LRKDLSQAPF SWPAGALVAQ ACHAATAALH
    61  THRDHPHTAA YLQELGRMRK VVLEAPDETT LKELAETLQQ KNIDHMLWLE QPENIATCIA
   121  LRPYPKEEVG QYLKKFRLFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PTRHD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PTRHD1.

Disease | AllUniProt

Conditions PTRHD1 is implicated in, by any mechanism.

• Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) MIM:620747

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 44 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
• Parkinsonian disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.94

gnomAD pLI

0

gnomAD missense Z

-0.19

DepMap mean gene effect

0

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

• peptidyl-tRNA hydrolase activity

Cellular components

• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Peptidyl-tRNA hydrolase, PTH2
• Peptidyl-tRNA hydrolase II domain superfamily
• Peptidyl-tRNA hydrolase PTH2
• Putative peptidyl-tRNA hydrolase PTRHD1

KeywordsUniProt

• Hydrolase
• Intellectual disability
• Parkinsonism