Gene: GNPTAB ENSG00000111670

Description

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [Source:HGNC Symbol;Acc:29670]

Gene Synonyms

GNPTA, ICD, KIAA1208, MGC4170

Location

Chromosome 12: 102,139,275-102,224,716 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 10 transcripts (splice variants) and is associated with 6 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000299314.7	GNPTAB-001	5701	1256aa	ENSP00000299314.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9088	F8VQW2 Q3T906 Q68CM9 Q9NV34	NM_024312.4	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000552681.1	GNPTAB-004	2267	138aa	ENSP00000449217.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YIE6	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000549940.1	GNPTAB-003	1678	490aa	ENSP00000449150.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VQW2 Q3T906	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000392919.4	GNPTAB-002	760	71aa	ENSP00000376651.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VQW2 Q9BUA5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000550718.1	GNPTAB-011	598	117aa	ENSP00000449557.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H0YIU2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000549165.1	GNPTAB-009	373	68aa	ENSP00000450413.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8VQW2	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000549738.1	GNPTAB-008	550	96aa	ENSP00000450161.1	Nonsense mediated decay		H0YIU2	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000550352.1	GNPTAB-006	787	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000552009.1	GNPTAB-010	601	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000549194.1	GNPTAB-007	570	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Recent locations

Gene: GNPTAB ENSG00000111670

Summary