Human (GRCh38.p14)
Description

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:21033]

Gene Synonyms

KIAA1320

Location

Chromosome 6: 104,728,094-104,859,919 reverse strand.

GRCh38:CM000668.2

About this gene

This gene has 12 transcripts (splice variants), 207 orthologues, 24 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000262903.9HACE1-2014575909aaENSP00000262903.4
 
Protein coding
CCDS5050Q8IYU2-1 NM_020771.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000369125.6HACE1-2023102694aaENSP00000358121.2
 
Protein coding
Q8IYU2-4 -GENCODE basicTSL:2
ENST00000518503.5HACE1-2091608329aaENSP00000429520.1
 
Protein coding
H0YBH3 -TSL:5CDS 5' incomplete
ENST00000518402.5HACE1-2081521300aaENSP00000428110.1
 
Protein coding
H0YAU8 -TSL:5CDS 5' incomplete
ENST00000519645.5HACE1-210859207aaENSP00000429765.1
 
Protein coding
E5RHI1 -TSL:5CDS 3' incomplete
ENST00000524020.1HACE1-212622138aaENSP00000427901.1
 
Protein coding
E5RFX0 -TSL:3CDS 3' incomplete
ENST00000416605.6HACE1-2044729178aaENSP00000392425.2
 
Nonsense mediated decay
E3W983 -TSL:1
ENST00000517424.1HACE1-2051866175aaENSP00000430898.1
 
Nonsense mediated decay
H0YC48 -TSL:2CDS 5' incomplete
ENST00000521962.1HACE1-21156144aaENSP00000430669.1
 
Nonsense mediated decay
H0YC01 -TSL:4CDS 5' incomplete
ENST00000517995.5HACE1-2062809No protein-
 
Protein coding CDS not defined
--TSL:1
ENST00000369127.8HACE1-2035318No protein-
 
Retained intron
--TSL:1
ENST00000518228.1HACE1-2072663No protein-
 
Retained intron
--TSL:1