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
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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000392919.4 | GNPTAB-002 | 760 | 71aa | ENSP00000376651.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VQW2 Q9BUA5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |