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Entry version 161 (08 May 2019)
Sequence version 2 (03 Oct 2006)
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Protein

Polyribonucleotide nucleotidyltransferase 1, mitochondrial

Gene

PNPT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. 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. 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. Plays also 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.12 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionExonuclease, Hydrolase, Nuclease, Nucleotidyltransferase, RNA-binding, Transferase
Biological processmRNA processing, Transport

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.7.8 2681

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Polyribonucleotide nucleotidyltransferase 1, mitochondrial (EC:2.7.7.8)
Alternative name(s):
3'-5' RNA exonuclease OLD35
PNPase old-35
Polynucleotide phosphorylase 1
Short name:
PNPase 1
Polynucleotide phosphorylase-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PNPT1
Synonyms:PNPASE
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:23166 PNPT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610316 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TCS8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 13 (COXPD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614932
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069248387Q → R in COXPD13; the mutation alters multimerization of the protein. 1 PublicationCorresponds to variant dbSNP:rs397514598EnsemblClinVar.1
Deafness, autosomal recessive, 70 (DFNB70)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech.
See also OMIM:614934
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069249475E → G in DFNB70; results in a hypofunctional protein leading to disturbed enzyme trimerization and impaired mitochondrial RNA import. 1 PublicationCorresponds to variant dbSNP:rs397514599EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi135D → G: Inhibits poly(A) polymerase and RNA degradation activities. Inhibits the import or stabilization of RNase P RNA into the mitochondrial matrix. Does not inhibit homotrimerization activity. 1 Publication1
Mutagenesisi445 – 446RR → EE: Stimulates in vitro poly(A) polymerase activity. Inhibits RNA degradation activity. Does not inhibit the import or stabilization of RNase P RNA into the mitochondrial matrix. Does not inhibit homotrimerization activity. 1 Publication2
Mutagenesisi484S → A: Inhibits poly(A) polymerase and RNA degradation activities. Does not inhibit the import or stabilization of RNase P RNA into the mitochondrial matrix. Does not inhibit homotrimerization activity. 1 Publication1
Mutagenesisi544D → A: Stimulates in vitro poly(A) polymerase activity. Inhibits RNA degradation activity. Inhibits the import or stabilization of RNase P RNA into the mitochondrial matrix. Does not inhibit homotrimerization activity. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
87178

MalaCards human disease database

More...
MalaCardsi
PNPT1
MIMi614932 phenotype
614934 phenotype

Open Targets

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OpenTargetsi
ENSG00000138035

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
319514 Combined oxidative phosphorylation defect type 13

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134915354

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PNPT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
115502437

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 45MitochondrionSequence analysisAdd BLAST45
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002475146 – 783Polyribonucleotide nucleotidyltransferase 1, mitochondrialAdd BLAST738

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei250N6-acetyllysineBy similarity1
Modified residuei264N6-acetyllysineCombined sources1
Modified residuei285N6-acetyllysineCombined sources1
Modified residuei289N6-acetyllysineCombined sources1
Modified residuei552N6-succinyllysineBy similarity1
Modified residuei754PhosphoserineCombined sources1
Modified residuei782PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TCS8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TCS8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TCS8

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8TCS8

PeptideAtlas

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PeptideAtlasi
Q8TCS8

PRoteomics IDEntifications database

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PRIDEi
Q8TCS8

ProteomicsDB human proteome resource

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ProteomicsDBi
74153

2D gel databases

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00291165

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8TCS8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8TCS8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q8TCS8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated in cells upon senescence and terminal differentiation. Up-regulated after treatment with IFNB1/IFN-beta.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138035 Expressed in 203 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8TCS8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TCS8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB033424
HPA034602
HPA034603

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer; in free form. Homooligomer. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity.2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124579, 38 interactors

Database of interacting proteins

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DIPi
DIP-50226N

Protein interaction database and analysis system

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IntActi
Q8TCS8, 13 interactors

Molecular INTeraction database

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MINTi
Q8TCS8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000400646

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1783
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3U1KX-ray2.13A/B/C/D46-669[»]
5ZF6X-ray2.80A/B46-669[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8TCS8

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini605 – 664KHPROSITE-ProRule annotationAdd BLAST60
Domaini679 – 750S1 motifPROSITE-ProRule annotationAdd BLAST72

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1067 Eukaryota
COG1185 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TCS8

KEGG Orthology (KO)

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KOi
K00962

Identification of Orthologs from Complete Genome Data

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OMAi
RYMHNYN

Database of Orthologous Groups

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OrthoDBi
236073at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8TCS8

TreeFam database of animal gene trees

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TreeFami
TF315264

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.1370.10, 1 hit
3.30.230.70, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001247 ExoRNase_PH_dom1
IPR015847 ExoRNase_PH_dom2
IPR036345 ExoRNase_PH_dom2_sf
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR012340 NA-bd_OB-fold
IPR012162 PNPase
IPR027408 PNPase/RNase_PH_dom_sf
IPR015848 PNPase_PH_RNA-bd_bac/org-type
IPR036456 PNPase_PH_RNA-bd_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR022967 S1_dom
IPR003029 S1_domain

The PANTHER Classification System

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PANTHERi
PTHR11252 PTHR11252, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00013 KH_1, 1 hit
PF03726 PNPase, 1 hit
PF01138 RNase_PH, 2 hits
PF03725 RNase_PH_C, 1 hit
PF00575 S1, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF005499 PNPase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00322 KH, 1 hit
SM00316 S1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46915 SSF46915, 1 hit
SSF50249 SSF50249, 1 hit
SSF54211 SSF54211, 2 hits
SSF54791 SSF54791, 1 hit
SSF55666 SSF55666, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR03591 polynuc_phos, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50084 KH_TYPE_1, 1 hit
PS50126 S1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8TCS8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAACRYCCSC LRLRPLSDGP FLLPRRDRAL TQLQVRALWS SAGSRAVAVD
60 70 80 90 100
LGNRKLEISS GKLARFADGS AVVQSGDTAV MVTAVSKTKP SPSQFMPLVV
110 120 130 140 150
DYRQKAAAAG RIPTNYLRRE IGTSDKEILT SRIIDRSIRP LFPAGYFYDT
160 170 180 190 200
QVLCNLLAVD GVNEPDVLAI NGASVALSLS DIPWNGPVGA VRIGIIDGEY
210 220 230 240 250
VVNPTRKEMS SSTLNLVVAG APKSQIVMLE ASAENILQQD FCHAIKVGVK
260 270 280 290 300
YTQQIIQGIQ QLVKETGVTK RTPQKLFTPS PEIVKYTHKL AMERLYAVFT
310 320 330 340 350
DYEHDKVSRD EAVNKIRLDT EEQLKEKFPE ADPYEIIESF NVVAKEVFRS
360 370 380 390 400
IVLNEYKRCD GRDLTSLRNV SCEVDMFKTL HGSALFQRGQ TQVLCTVTFD
410 420 430 440 450
SLESGIKSDQ VITAINGIKD KNFMLHYEFP PYATNEIGKV TGLNRRELGH
460 470 480 490 500
GALAEKALYP VIPRDFPFTI RVTSEVLESN GSSSMASACG GSLALMDSGV
510 520 530 540 550
PISSAVAGVA IGLVTKTDPE KGEIEDYRLL TDILGIEDYN GDMDFKIAGT
560 570 580 590 600
NKGITALQAD IKLPGIPIKI VMEAIQQASV AKKEILQIMN KTISKPRASR
610 620 630 640 650
KENGPVVETV QVPLSKRAKF VGPGGYNLKK LQAETGVTIS QVDEETFSVF
660 670 680 690 700
APTPSAMHEA RDFITEICKD DQEQQLEFGA VYTATITEIR DTGVMVKLYP
710 720 730 740 750
NMTAVLLHNT QLDQRKIKHP TALGLEVGQE IQVKYFGRDP ADGRMRLSRK
760 770 780
VLQSPATTVV RTLNDRSSIV MGEPISQSSS NSQ
Length:783
Mass (Da):85,951
Last modified:October 3, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i52DBC2119F7234E9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C3C5H7C3C5_HUMAN
Polyribonucleotide nucleotidyltrans...
PNPT1
139Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BXF6H7BXF6_HUMAN
Polyribonucleotide nucleotidyltrans...
PNPT1
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WBI3F8WBI3_HUMAN
Polyribonucleotide nucleotidyltrans...
PNPT1
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti656A → V in AAK13047 (PubMed:12473748).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027787121I → V3 PublicationsCorresponds to variant dbSNP:rs782572EnsemblClinVar.1
Natural variantiVAR_050610230E → Q. Corresponds to variant dbSNP:rs34928857EnsemblClinVar.1
Natural variantiVAR_069248387Q → R in COXPD13; the mutation alters multimerization of the protein. 1 PublicationCorresponds to variant dbSNP:rs397514598EnsemblClinVar.1
Natural variantiVAR_069249475E → G in DFNB70; results in a hypofunctional protein leading to disturbed enzyme trimerization and impaired mitochondrial RNA import. 1 PublicationCorresponds to variant dbSNP:rs397514599EnsemblClinVar.1
Natural variantiVAR_027788590N → D. Corresponds to variant dbSNP:rs7594497EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ458465 mRNA Translation: CAD30289.1
AY027528 mRNA Translation: AAK13047.1
AC015982 Genomic DNA Translation: AAY24271.1
BC000862 mRNA Translation: AAH00862.2
BC005986 mRNA Translation: AAH05986.1
BC053660 mRNA Translation: AAH53660.1
AY290863 mRNA Translation: AAP44472.1
CR749867 mRNA Translation: CAH18709.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1856.1

Protein sequence database of the Protein Information Resource

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PIRi
T50626

NCBI Reference Sequences

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RefSeqi
NP_149100.2, NM_033109.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000415374; ENSP00000393953; ENSG00000138035
ENST00000447944; ENSP00000400646; ENSG00000138035

Database of genes from NCBI RefSeq genomes

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GeneIDi
87178

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:87178

UCSC genome browser

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UCSCi
uc002rzf.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ458465 mRNA Translation: CAD30289.1
AY027528 mRNA Translation: AAK13047.1
AC015982 Genomic DNA Translation: AAY24271.1
BC000862 mRNA Translation: AAH00862.2
BC005986 mRNA Translation: AAH05986.1
BC053660 mRNA Translation: AAH53660.1
AY290863 mRNA Translation: AAP44472.1
CR749867 mRNA Translation: CAH18709.1
CCDSiCCDS1856.1
PIRiT50626
RefSeqiNP_149100.2, NM_033109.4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3U1KX-ray2.13A/B/C/D46-669[»]
5ZF6X-ray2.80A/B46-669[»]
SMRiQ8TCS8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124579, 38 interactors
DIPiDIP-50226N
IntActiQ8TCS8, 13 interactors
MINTiQ8TCS8
STRINGi9606.ENSP00000400646

PTM databases

iPTMnetiQ8TCS8
PhosphoSitePlusiQ8TCS8
SwissPalmiQ8TCS8

Polymorphism and mutation databases

BioMutaiPNPT1
DMDMi115502437

2D gel databases

REPRODUCTION-2DPAGEiIPI00291165

Proteomic databases

EPDiQ8TCS8
jPOSTiQ8TCS8
MaxQBiQ8TCS8
PaxDbiQ8TCS8
PeptideAtlasiQ8TCS8
PRIDEiQ8TCS8
ProteomicsDBi74153

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000415374; ENSP00000393953; ENSG00000138035
ENST00000447944; ENSP00000400646; ENSG00000138035
GeneIDi87178
KEGGihsa:87178
UCSCiuc002rzf.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
87178
DisGeNETi87178

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PNPT1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0023979
HGNCiHGNC:23166 PNPT1
HPAiCAB033424
HPA034602
HPA034603
MalaCardsiPNPT1
MIMi610316 gene
614932 phenotype
614934 phenotype
neXtProtiNX_Q8TCS8
OpenTargetsiENSG00000138035
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
319514 Combined oxidative phosphorylation defect type 13
PharmGKBiPA134915354

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1067 Eukaryota
COG1185 LUCA
GeneTreeiENSGT00390000014001
InParanoidiQ8TCS8
KOiK00962
OMAiRYMHNYN
OrthoDBi236073at2759
PhylomeDBiQ8TCS8
TreeFamiTF315264

Enzyme and pathway databases

BRENDAi2.7.7.8 2681

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PNPT1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
87178

Protein Ontology

More...
PROi
PR:Q8TCS8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138035 Expressed in 203 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ8TCS8 baseline and differential
GenevisibleiQ8TCS8 HS

Family and domain databases

Gene3Di3.30.1370.10, 1 hit
3.30.230.70, 2 hits
InterProiView protein in InterPro
IPR001247 ExoRNase_PH_dom1
IPR015847 ExoRNase_PH_dom2
IPR036345 ExoRNase_PH_dom2_sf
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR012340 NA-bd_OB-fold
IPR012162 PNPase
IPR027408 PNPase/RNase_PH_dom_sf
IPR015848 PNPase_PH_RNA-bd_bac/org-type
IPR036456 PNPase_PH_RNA-bd_sf
IPR020568 Ribosomal_S5_D2-typ_fold
IPR022967 S1_dom
IPR003029 S1_domain
PANTHERiPTHR11252 PTHR11252, 1 hit
PfamiView protein in Pfam
PF00013 KH_1, 1 hit
PF03726 PNPase, 1 hit
PF01138 RNase_PH, 2 hits
PF03725 RNase_PH_C, 1 hit
PF00575 S1, 1 hit
PIRSFiPIRSF005499 PNPase, 1 hit
SMARTiView protein in SMART
SM00322 KH, 1 hit
SM00316 S1, 1 hit
SUPFAMiSSF46915 SSF46915, 1 hit
SSF50249 SSF50249, 1 hit
SSF54211 SSF54211, 2 hits
SSF54791 SSF54791, 1 hit
SSF55666 SSF55666, 2 hits
TIGRFAMsiTIGR03591 polynuc_phos, 1 hit
PROSITEiView protein in PROSITE
PS50084 KH_TYPE_1, 1 hit
PS50126 S1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPNPT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TCS8
Secondary accession number(s): Q53SU0
, Q68CN1, Q7Z7D1, Q8IWX1, Q96T05, Q9BRU3, Q9BVX0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: October 3, 2006
Last modified: May 8, 2019
This is version 161 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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