Gene: HACE1 ENSG00000085382

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 4 phenotypes.

Transcripts

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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	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

EMBL-EBI User Survey 2024

Gene: HACE1 ENSG00000085382

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EMBL-EBI User Survey 2024

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Gene: HACE1 ENSG00000085382

Summary