PNPT1
entrez
87178
canonical
uniprot
Q8TCS8
canonical
ensembl
ENSG00000138035
resolver
ensp
ENSP00000393953
resolver
ensp
ENSP00000400646
resolver
ensp
ENSP00000731769
resolver
enst
ENST00000415374
resolver
enst
ENST00000447944
resolver
genesymbol
PNPT1
resolver
genesymbol_syn
PNPASE
resolver
hgnc
HGNC:23166
resolver
uniprot
Q53SU0
resolver
uniprot
Q68CN1
resolver
uniprot
Q7Z7D1
resolver
uniprot
Q8IWX1
resolver
uniprot
Q96T05
resolver
uniprot
Q9BRU3
resolver
uniprot
Q9BVX0
resolver
uniprot_entry
PNPT1_HUMAN
resolver
uniprot_sec
Q53SU0
resolver
uniprot_sec
Q68CN1
resolver
uniprot_sec
Q7Z7D1
resolver
uniprot_sec
Q8IWX1
resolver
uniprot_sec
Q96T05
resolver
uniprot_sec
Q9BRU3
resolver
uniprot_sec
Q9BVX0
resolver
amino_acid_sequence
MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISSGKLARFADGSAVVQSGDTAVMVTAVSKTKPSPSQFMPLVVDYRQKAAAAGRIPTNYLRREIGTSDKEILTSRIIDRSIRPLFPAGYFYDTQVLCNLLAVDGVNEPDVLAINGASVALSLSDIPWNGPVGAVRIGIIDGEYVVNPTRKEMSSSTLNLVVAGAPKSQIVMLEASAENILQQDFCHAIKVGVKYTQQIIQGIQQLVKETGVTKRTPQKLFTPSPEIVKYTHKLAMERLYAVFTDYEHDKVSRDEAVNKIRLDTEEQLKEKFPEADPYEIIESFNVVAKEVFRSIVLNEYKRCDGRDLTSLRNVSCEVDMFKTLHGSALFQRGQTQVLCTVTFDSLESGIKSDQVITAINGIKDKNFMLHYEFPPYATNEIGKVTGLNRRELGHGALAEKALYPVIPRDFPFTIRVTSEVLESNGSSSMASACGGSLALMDSGVPISSAVAGVAIGLVTKTDPEKGEIEDYRLLTDILGIEDYNGDMDFKIAGTNKGITALQADIKLPGIPIKIVMEAIQQASVAKKEILQIMNKTISKPRASRKENGPVVETVQVPLSKRAKFVGPGGYNLKKLQAETGVTISQVDEETFSVFAPTPSAMHEARDFITEICKDDQEQQLEFGAVYTATITEIRDTGVMVKLYPNMTAVLLHNTQLDQRKIKHPTALGLEVGQEIQVKYFGRDPADGRMRLSRKVLQSPATTVVRTLNDRSSIVMGEPISQSSSNSQ
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 13 (COXPD13) [MIM:614932]: A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased. {ECO:0000269|PubMed:23084291}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration (DFNB70) [MIM:614934]: A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. {ECO:0000269|PubMed:23084290}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spinocerebellar ataxia 25 (SCA25) [MIM:608703]: An autosomal dominant form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA25 is characterized by the onset of lower limb ataxia and gait difficulties in the first few decades of life, although later onset has been reported. There is incomplete penetrance and variable expressivity, even within families. {ECO:0000269|PubMed:35411967}. Note=The disease is caused by variants affecting the gene represented in this entry. Both genetic variants associated so far with this disease are affecting splicing. {ECO:0000269|PubMed:35411967}.
uniprot
proteins
ec_number
2.7.7.8
uniprot
proteins
function
FUNCTION: RNA-binding protein implicated in numerous RNA metabolic processes (PubMed:29967381, PubMed:39019044). Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction (PubMed:29967381, PubMed:39019044). Mitochondrial intermembrane factor with RNA-processing exoribonulease activity (PubMed:29967381, PubMed:39019044). Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner (PubMed:29967381, PubMed:39019044). Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381, PubMed:39019044). Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Also plays a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA. {ECO:0000269|PubMed:12473748, ECO:0000269|PubMed:12721301, ECO:0000269|PubMed:12798676, ECO:0000269|PubMed:16055741, ECO:0000269|PubMed:16410805, ECO:0000269|PubMed:16934922, ECO:0000269|PubMed:18083836, ECO:0000269|PubMed:18083837, ECO:0000269|PubMed:18501193, ECO:0000269|PubMed:19509288, ECO:0000269|PubMed:20547861, ECO:0000269|PubMed:20691904, ECO:0000269|PubMed:29967381, ECO:0000269|PubMed:39019044}.
uniprot
proteins
mass_dalton
85951
uniprot
proteins
mutagenesis
MUTAGEN 135; /note="D->G: Inhibits poly(A) polymerase and RNA degradation activities. Inhibits the import or stabilization of RNase PRNA into the mitochondrial matrix. Does not inhibit homotrimerization activity."; /evidence="ECO:0000269|PubMed:20691904"; MUTAGEN 445..446; /note="RR->EE: Stimulates in vitro poly(A) polymerase activity. Inhibits RNA degradation activity. Does not inhibit the import or stabilization of RNase PRNA into the mitochondrial matrix. Does not inhibit homotrimerization activity."; /evidence="ECO:0000269|PubMed:20691904"; MUTAGEN 484; /note="S->A: Inhibits poly(A) polymerase and RNA degradation activities. Does not inhibit the import or stabilization of RNase PRNA into the mitochondrial matrix. Does not inhibit homotrimerization activity."; /evidence="ECO:0000269|PubMed:20691904"; MUTAGEN 544; /note="D->A: Stimulates in vitro poly(A) polymerase activity. Inhibits RNA degradation activity. Inhibits the import or stabilization of RNase PRNA into the mitochondrial matrix. Does not inhibit homotrimerization activity."; /evidence="ECO:0000269|PubMed:20691904
uniprot
proteins
protein_family
Polyribonucleotide nucleotidyltransferase family
uniprot
proteins
pubmed
12419256
uniprot
proteins
pubmed
12473748
uniprot
proteins
pubmed
12721301
uniprot
proteins
pubmed
12798676
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16055741
uniprot
proteins
pubmed
16410805
uniprot
proteins
pubmed
16934922
uniprot
proteins
pubmed
16966381
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18083836
uniprot
proteins
pubmed
18083837
uniprot
proteins
pubmed
18501193
uniprot
proteins
pubmed
19509288
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
20547861
uniprot
proteins
pubmed
20691904
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23084290
uniprot
proteins
pubmed
23084291
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29967381
uniprot
proteins
pubmed
35411967
uniprot
proteins
pubmed
39019044
uniprot
proteins
sequence_length
783
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16055741}. Mitochondrion matrix {ECO:0000269|PubMed:12798676, ECO:0000269|PubMed:16055741}. Mitochondrion intermembrane space {ECO:0000269|PubMed:16966381}; Peripheral membrane protein {ECO:0000269|PubMed:16966381}.
uniprot
proteins