Description
glutamate-cysteine ligase, catalytic subunit [Source:HGNC Symbol;Acc:4311]
Gene Synonyms
GCL, GCS, GLCL, GLCLC
Location
Chromosome 6: 53,362,139-53,481,768 reverse strand.
GRCh37:CM000668.1
About this gene
This gene has 12 transcripts (splice variants) and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000229416.6 | GCLC-001 | 3813 | 637aa | ENSP00000229416.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS4952 | B4E2I4 D6R959 P48506 Q14TF0 | NM_001498.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000514004.1 | GCLC-003 | 2356 | 252aa | ENSP00000421908.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R959 P48506 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000505197.1 | GCLC-013 | 592 | 18aa | ENSP00000427403.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000514933.1 | GCLC-006 | 542 | 154aa | ENSP00000423615.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | D6R959 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000513939.1 | GCLC-009 | 519 | 173aa | ENSP00000424211.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000514373.1 | GCLC-010 | 331 | 94aa | ENSP00000426578.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000504525.1 | GCLC-008 | 1011 | 54aa | ENSP00000421228.1 | Nonsense mediated decay | D6RGF8 | - | - | |
| ENST00000505294.1 | GCLC-007 | 847 | 122aa | ENSP00000421629.1 | Nonsense mediated decay | D6REX4 | - | - | |
| ENST00000509541.1 | GCLC-005 | 3774 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000515580.1 | GCLC-004 | 2132 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000510837.1 | GCLC-011 | 776 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000504353.1 | GCLC-012 | 597 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
