Gene: PNPT1 ENSG00000138035

Description

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

Gene Synonyms

COXPD13, DFNB70, OLD35, PNPASE, PNPase, old-35

Location

GRCh37:CM000664.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 9 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000447944.2	PNPT1-001	4411	783aa	ENSP00000400646.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS1856	Q8TCS8	NM_033109.4	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000260604.4	PNPT1-004	3596	179aa	ENSP00000260604.4	Nonsense mediated decay		H7BXF6	-	-
ENST00000415374.1	PNPT1-007	3308	783aa	ENSP00000393953.1	Nonsense mediated decay	CCDS1856	Q8TCS8	-	-
ENST00000429805.1	PNPT1-003	583	71aa	ENSP00000411994.1	Nonsense mediated decay		F8WBI3	-	-
ENST00000415489.1	PNPT1-008	555	139aa	ENSP00000411057.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000481066.1	PNPT1-005	1281	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024