Human (GRCh38.p14)
Description

polyribonucleotide nucleotidyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:23166]

Gene Synonyms

DFNB70, OLD-35, OLD35, PNPASE

Location

Chromosome 2: 55,634,061-55,693,863 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 7 transcripts (splice variants), 201 orthologues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000447944.7PNPT1-2054549783aaENSP00000400646.2
 
Protein coding
CCDS1856Q8TCS8 NM_033109.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000625249.1PNPT1-20721671aaENSP00000486227.1
 
Protein coding
F8WBI3 -GENCODE basicTSL:5
ENST00000260604.8PNPT1-2013596179aaENSP00000260604.4
 
Nonsense mediated decay
H7BXF6 -TSL:5
ENST00000415374.5PNPT1-2023308783aaENSP00000393953.1
 
Nonsense mediated decay
CCDS1856Q8TCS8 -TSL:5
ENST00000429805.1PNPT1-20458371aaENSP00000411994.1
 
Nonsense mediated decay
F8WBI3 -TSL:3
ENST00000415489.1PNPT1-203555139aaENSP00000411057.1
 
Nonsense mediated decay
H7C3C5 -TSL:3CDS 5' incomplete
ENST00000481066.1PNPT1-2061281No protein-
 
Retained intron
--TSL:5