Description
galactokinase 1 [Source:HGNC Symbol;Acc:4118]
Gene Synonyms
GALK, GK1, HEL-S-19
Location
Chromosome 17: 73,747,675-73,761,792 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000588479.1 | GALK1-001 | 1866 | 392aa | ENSP00000465930.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11728 | C8CHJ6 P51570 Q71UH7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000225614.2 | GALK1-002 | 1445 | 392aa | ENSP00000225614.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11728 | C8CHJ6 P51570 Q71UH7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000437911.1 | GALK1-201 | 1379 | 422aa | ENSP00000406305.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E1G6 C8CHJ6 Q71UH7 | NM_000154.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000592997.1 | GALK1-007 | 717 | 184aa | ENSP00000464765.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EII7 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000586244.1 | GALK1-003 | 1180 | 120aa | ENSP00000468288.1 | Nonsense mediated decay | K7ERJ9 | - | - | |
ENST00000587707.1 | GALK1-006 | 667 | 91aa | ENSP00000468341.1 | Nonsense mediated decay | K7ERN9 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000592494.1 | GALK1-004 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000589030.1 | GALK1-005 | 866 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000586733.1 | GALK1-008 | 465 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000589643.1 | GALK1-009 | 313 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |