PTRHD1
entrez
391356
canonical
uniprot
Q6GMV3
canonical
ensembl
ENSG00000184924
resolver
ensp
ENSP00000330389
resolver
enst
ENST00000328379
resolver
genesymbol
PTRHD1
resolver
genesymbol_syn
C2orf79
resolver
hgnc
HGNC:33782
resolver
uniprot_entry
PTRD1_HUMAN
resolver
amino_acid_sequence
MHRGVGPAFRVVRKMAASGAEPQVLVQYLVLRKDLSQAPFSWPAGALVAQACHAATAALHTHRDHPHTAAYLQELGRMRKVVLEAPDETTLKELAETLQQKNIDHMLWLEQPENIATCIALRPYPKEEVGQYLKKFRLFK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities (NEDPBA) [MIM:620747]: An autosomal recessive disorder manifesting in late infancy or early childhood. It is characterized by developmental delay, intellectual disability, learning difficulties, behavioral abnormalities, and parkinsonism and spasticity usually developing in the third or fourth decades. {ECO:0000269|PubMed:27134041, ECO:0000269|PubMed:27753167, ECO:0000269|PubMed:30398675, ECO:0000269|PubMed:34765690, ECO:0000269|PubMed:34816696, ECO:0000269|PubMed:38286424}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.29
uniprot
proteins
function
FUNCTION: As a putative peptidyl-tRNA hydrolase, it might be involved in releasing tRNAs from the ribosome during protein synthesis (Probable). Some evidence, however, suggests that it lacks peptidyl-tRNA hydrolase activity (PubMed:27235175). {ECO:0000269|PubMed:27235175, ECO:0000305}.
uniprot
proteins
mass_dalton
15805
uniprot
proteins
protein_family
PTH2 family
uniprot
proteins
protein_family
PTRHD1 subfamily
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27134041
uniprot
proteins
pubmed
27235175
uniprot
proteins
pubmed
27753167
uniprot
proteins
pubmed
30398675
uniprot
proteins
pubmed
34765690
uniprot
proteins
pubmed
34816696
uniprot
proteins
pubmed
38286424
uniprot
proteins
sequence_length
140
uniprot
proteins