EnsemblEnsembl Home
Human (GRCh37.p13)
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.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000262903.4HACE1-0024576909aaENSP00000262903.4
 
Protein coding
CCDS5050E3W983 E5RFX0 Q8IYU2
NM_020771
NP_065822
GENCODE basic
ENST00000369125.2HACE1-0033102694aaENSP00000358121.2
 
Protein coding
E3W983 E5RFX0 Q8IYU2
-GENCODE basic
ENST00000518503.1HACE1-0071608329aaENSP00000429520.1
 
Protein coding
--CDS 5' incomplete
ENST00000518402.1HACE1-0081521300aaENSP00000428110.1
 
Protein coding
--CDS 5' incomplete
ENST00000519645.1HACE1-010859207aaENSP00000429765.1
 
Protein coding
E5RHI1 -CDS 3' incomplete
ENST00000524020.1HACE1-012622138aaENSP00000427901.1
 
Protein coding
E5RFX0 -CDS 3' incomplete
ENST00000416605.2HACE1-0044729178aaENSP00000392425.2
 
Nonsense mediated decay
E3W983 E5RFX0 --
ENST00000517424.1HACE1-0051866175aaENSP00000430898.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000521962.1HACE1-01156144aaENSP00000430669.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000517995.1HACE1-0062809No protein-
 
Processed transcript
---
ENST00000369127.4HACE1-0015318No protein-
 
Retained intron
---
ENST00000518228.1HACE1-0092663No protein-
 
Retained intron
---

Gene-based displays