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PNPT1
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  • PNPT1
PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PNPT1
Synonyms DFNB70, old-35, OLD35, PNPase
Gene descriptioni

Full gene name according to HGNC.

Polyribonucleotide nucleotidyltransferase 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Enzymes
Human disease related genes
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband p16.1
Chromosome location (bp) 55634061 - 55693863
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000138035 (version 103.38)
Entrez gene 87178
HGNC HGNC:23166
UniProt Q8TCS8 (UniProt - Evidence at protein level)
neXtProt NX_Q8TCS8
Antibodypedia PNPT1 antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 13      # Population variants: 465

Antigens:

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On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
PNPT1-205
PNPT1-207


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PNPT1-205
ENSP00000400646
ENST00000447944
Q8TCS8 [Direct mapping]
Polyribonucleotide nucleotidyltransferase 1, mitochondrial
Show all
Enzymes
   ENZYME proteins
   Transferases
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000175 [3'-5'-exoribonuclease activity]
GO:0000957 [mitochondrial RNA catabolic process]
GO:0000958 [mitochondrial mRNA catabolic process]
GO:0000962 [positive regulation of mitochondrial RNA catabolic process]
GO:0000964 [mitochondrial RNA 5'-end processing]
GO:0000965 [mitochondrial RNA 3'-end processing]
GO:0003676 [nucleic acid binding]
GO:0003723 [RNA binding]
GO:0004518 [nuclease activity]
GO:0004527 [exonuclease activity]
GO:0004654 [polyribonucleotide nucleotidyltransferase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005758 [mitochondrial intermembrane space]
GO:0005759 [mitochondrial matrix]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005829 [cytosol]
GO:0006396 [RNA processing]
GO:0006397 [mRNA processing]
GO:0006401 [RNA catabolic process]
GO:0006402 [mRNA catabolic process]
GO:0008266 [poly(U) RNA binding]
GO:0016020 [membrane]
GO:0016740 [transferase activity]
GO:0016779 [nucleotidyltransferase activity]
GO:0016787 [hydrolase activity]
GO:0034046 [poly(G) binding]
GO:0034599 [cellular response to oxidative stress]
GO:0035198 [miRNA binding]
GO:0035458 [cellular response to interferon-beta]
GO:0035927 [RNA import into mitochondrion]
GO:0035928 [rRNA import into mitochondrion]
GO:0042788 [polysomal ribosome]
GO:0043457 [regulation of cellular respiration]
GO:0043631 [RNA polyadenylation]
GO:0045025 [mitochondrial degradosome]
GO:0045926 [negative regulation of growth]
GO:0051260 [protein homooligomerization]
GO:0051591 [response to cAMP]
GO:0060416 [response to growth hormone]
GO:0061014 [positive regulation of mRNA catabolic process]
GO:0070207 [protein homotrimerization]
GO:0070584 [mitochondrion morphogenesis]
GO:0071042 [nuclear polyadenylation-dependent mRNA catabolic process]
GO:0071850 [mitotic cell cycle arrest]
GO:0090305 [nucleic acid phosphodiester bond hydrolysis]
GO:0090503 [RNA phosphodiester bond hydrolysis, exonucleolytic]
GO:0097222 [mitochondrial mRNA polyadenylation]
GO:0097421 [liver regeneration]
GO:2000627 [positive regulation of miRNA catabolic process]
GO:2000772 [regulation of cellular senescence]
Show all
783 aa
85.9 kDa
No 0
PNPT1-207
ENSP00000486227
ENST00000625249
F8WBI3 [Direct mapping]
Polyribonucleotide nucleotidyltransferase 1, mitochondrial
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003723 [RNA binding]
GO:0004654 [polyribonucleotide nucleotidyltransferase activity]
GO:0006402 [mRNA catabolic process]
Show all
71 aa
8 kDa
No 0

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.