Description

nicotinamide nucleotide adenylyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:17877]

Synonyms

LCA9, NMNAT, PNAT1

Location
INSDC coordinates

chromosome:GRCh38:CM000663.2:9943428:9985501:1

About this gene

This gene has 5 transcripts (splice variants), 63 orthologues, 2 paralogues, is a member of 2 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
NMNAT1-001ENST000003772053781279aaENSP00000366410
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS108A0A024R4E1 Q9HAN9 NM_001297778
NM_022787
NP_001284707
NP_073624
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P1

PRINCIPAL1 - APPRIS candidate principal isoform.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

NMNAT1-002ENST000004031971094160aaENSP00000385131
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS72698B1AN62 NM_001297779
NP_001284708
TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
NMNAT1-003ENST0000049675148542aaENSP00000467340
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-K7EPD7 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NMNAT1-005ENST000004626861818279aaENSP00000435134
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
CCDS108A0A024R4E1 Q9HAN9 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

NMNAT1-004ENST00000492735514No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays