Description
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:21033]
Gene Synonyms
KIAA1320
Location
Chromosome 6: 105,175,968-105,307,794 reverse strand.
GRCh37:CM000668.1
About this gene
This gene has 12 transcripts (splice variants), 4 paralogues and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000262903.4 | HACE1-002 | 4576 | 909aa | ENSP00000262903.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5050 | E3W983 E5RFX0 Q8IYU2 | NM_020771.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000369125.2 | HACE1-003 | 3102 | 694aa | ENSP00000358121.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E3W983 E5RFX0 Q8IYU2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000518503.1 | HACE1-007 | 1608 | 329aa | ENSP00000429520.1 | 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, | |
| ENST00000518402.1 | HACE1-008 | 1521 | 300aa | ENSP00000428110.1 | 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, | |
| ENST00000519645.1 | HACE1-010 | 859 | 207aa | ENSP00000429765.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHI1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000524020.1 | HACE1-012 | 622 | 138aa | ENSP00000427901.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFX0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000416605.2 | HACE1-004 | 4729 | 178aa | ENSP00000392425.2 | Nonsense mediated decay | E3W983 E5RFX0 | - | - | |
| ENST00000517424.1 | HACE1-005 | 1866 | 175aa | ENSP00000430898.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000521962.1 | HACE1-011 | 561 | 44aa | ENSP00000430669.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000517995.1 | HACE1-006 | 2809 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000369127.4 | HACE1-001 | 5318 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000518228.1 | HACE1-009 | 2663 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
