Description
galactosylceramidase [Source:HGNC Symbol;Acc:4115]
Location
Chromosome 14: 88,304,164-88,460,009 reverse strand.
GRCh37:CM000676.1
About this gene
This gene has 15 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000261304.2 | GALC-001 | 3883 | 685aa | ENSP00000261304.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS9878 | P54803 | NM_001201401.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393569.2 | GALC-002 | 2547 | 659aa | ENSP00000377199.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55937 | - | NM_001201402.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000544807.2 | GALC-007 | 2528 | 589aa | ENSP00000437513.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V255 P54803 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000393568.4 | GALC-005 | 2054 | 662aa | ENSP00000377198.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55936 | E7EPA4 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000555000.1 | GALC-008 | 2067 | 434aa | ENSP00000450472.1 | Nonsense mediated decay | G3V255 | - | - | |
| ENST00000557316.1 | GALC-006 | 1874 | 211aa | ENSP00000452314.1 | Nonsense mediated decay | G3V5E8 | - | - | |
| ENST00000554372.1 | GALC-009 | 717 | 112aa | ENSP00000451884.1 | Nonsense mediated decay | G3V4M2 | - | - | |
| ENST00000556879.1 | GALC-010 | 595 | 62aa | ENSP00000452208.1 | Nonsense mediated decay | H0YJV6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000555179.1 | GALC-014 | 554 | 72aa | ENSP00000451480.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000554916.1 | GALC-011 | 631 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000556261.1 | GALC-012 | 567 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000557520.1 | GALC-016 | 408 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000474294.2 | GALC-003 | 1263 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000477716.3 | GALC-013 | 605 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000555956.1 | GALC-015 | 525 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
