PTRH2
entrez
51651
canonical
uniprot
Q9Y3E5
canonical
ensembl
ENSG00000141378
resolver
ensp
ENSP00000376758
resolver
ensp
ENSP00000387180
resolver
ensp
ENSP00000464327
resolver
ensp
ENSP00000562125
resolver
ensp
ENSP00000562126
resolver
ensp
ENSP00000562127
resolver
ensp
ENSP00000562128
resolver
ensp
ENSP00000562129
resolver
ensp
ENSP00000562130
resolver
ensp
ENSP00000562131
resolver
ensp
ENSP00000583187
resolver
ensp
ENSP00000583188
resolver
ensp
ENSP00000583189
resolver
ensp
ENSP00000583190
resolver
ensp
ENSP00000583191
resolver
ensp
ENSP00000583192
resolver
ensp
ENSP00000583193
resolver
ensp
ENSP00000583194
resolver
ensp
ENSP00000631256
resolver
enst
ENST00000393038
resolver
enst
ENST00000409433
resolver
enst
ENST00000470557
resolver
enst
ENST00000892066
resolver
enst
ENST00000892067
resolver
enst
ENST00000892068
resolver
enst
ENST00000892069
resolver
enst
ENST00000892070
resolver
enst
ENST00000892071
resolver
enst
ENST00000892072
resolver
enst
ENST00000913128
resolver
enst
ENST00000913129
resolver
enst
ENST00000913130
resolver
enst
ENST00000913131
resolver
enst
ENST00000913132
resolver
enst
ENST00000913133
resolver
enst
ENST00000913134
resolver
enst
ENST00000913135
resolver
enst
ENST00000961197
resolver
genesymbol
PTRH2
resolver
genesymbol_syn
BIT1
resolver
genesymbol_syn
PTH2
resolver
hgnc
HGNC:24265
resolver
uniprot
B3KUY4
resolver
uniprot
J3KQ48
resolver
uniprot
Q9NTE5
resolver
uniprot_entry
J3KQ48_HUMAN
resolver
uniprot_entry
PTH2_HUMAN
resolver
uniprot_sec
B3KUY4
resolver
uniprot_sec
Q9NTE5
resolver
amino_acid_sequence
MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY
uniprot
proteins
disease_involvement
DISEASE: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 (IMNEPD1) [MIM:616263]: A progressive multisystem disease characterized by a variety of neurologic, endocrine, and, in some patients, pancreatic features. Variable clinical symptoms include global developmental delay, hypotonia, hearing loss, ataxia, hyporeflexia, facial dysmorphism, hypothyroidism, and pancreatic insufficiency. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:25574476}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.29
uniprot
proteins
function
FUNCTION: Peptidyl-tRNA hydrolase which releases tRNAs from the ribosome during protein synthesis (PubMed:14660562). Promotes caspase-independent apoptosis by regulating the function of two transcriptional regulators, AES and TLE1. {ECO:0000269|PubMed:14660562, ECO:0000269|PubMed:15006356}.
uniprot
proteins
mass_dalton
19194
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. {ECO:0000269|PubMed:25621951}.
uniprot
proteins
protein_family
PTH2 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
14660562
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15006356
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
25574476
uniprot
proteins
pubmed
25621951
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27184847
uniprot
proteins
sequence_length
179
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:27184847}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..37; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins