Hace1 HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hace1provided by MGI
Official Full Name: HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1provided by MGI
Primary source: MGI:MGI:2446110
See related: Ensembl:ENSMUSG00000038822 AllianceGenome:MGI:2446110
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1700042J16Rik; A730034A22Rik
Summary: Predicted to enable small GTPase binding activity and ubiquitin protein ligase activity. Predicted to be involved in several processes, including Golgi organization; cellular protein metabolic process; and positive regulation of protein catabolic process. Predicted to be located in endoplasmic reticulum and nuclear body. Predicted to be active in Golgi membrane and nucleus. Is expressed in central nervous system; eye; foregut; skin; and testis. Orthologous to human HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14 (RPKM 12.1), liver E14.5 (RPKM 11.5) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B2; 10 23.65 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (45453911..45588441)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (45577814..45712345)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The HACE1 E3 ligase mediates RAC1-dependent control of mTOR signaling complexes.
Title: The HACE1 E3 ligase mediates RAC1-dependent control of mTOR signaling complexes.
HACE1 blocks HIF1alpha accumulation under hypoxia in a RAC1 dependent manner.
Title: HACE1 blocks HIF1α accumulation under hypoxia in a RAC1 dependent manner.
HACE1 Prevents Lung Carcinogenesis via Inhibition of RAC-Family GTPases.
Title: HACE1 Prevents Lung Carcinogenesis via Inhibition of RAC-Family GTPases.
Authors show that the genetic ablation of hace1 in the YAC128 mouse model of HD accelerates motor deficits and exacerbates cognitive and psychiatric phenotypes in vivo.
Title: HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo.
HACE1 controls TNF-elicited cell fate decisions and exerts tumor suppressor and anti-inflammatory activities via a TNFR1-RIP3 kinase-necroptosis pathway.
Title: The Tumor Suppressor Hace1 Is a Critical Regulator of TNFR1-Mediated Cell Fate.
Increased reactive oxygen species (ROS) production due to Hace1 loss leads to glutamine addiction as a mechanism to cope with increased ROS-induced oxidative stress.
Title: Loss of the tumor suppressor Hace1 leads to ROS-dependent glutamine addiction.
Data indicate that HECT E3 ubiquitin ligase HACE1 deficiency accelerates pressure overload-induced heart failure.
Title: HACE1-dependent protein degradation provides cardiac protection in response to haemodynamic stress.
HACE1-OPTN axis synergistically suppresses growth and tumorigenicity of lung cancer cells.
Title: Ubiquitylation of autophagy receptor Optineurin by HACE1 activates selective autophagy for tumor suppression.
Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes.
Title: Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in membrane fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane fusion	ISO Inferred from Sequence Orthology more info
involved_in protein K48-linked ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase HACE1

Names: HECT-type E3 ubiquitin transferase HACE1

NP_766061.2

EC 2.3.2.26

XP_006512697.1

EC 2.3.2.26

XP_006512698.1

EC 2.3.2.26

XP_006512699.1

EC 2.3.2.26

XP_006512700.1

EC 2.3.2.26

XP_006512701.1

EC 2.3.2.26

XP_017169354.1

EC 2.3.2.26

XP_030100842.1

EC 2.3.2.26

XP_030100843.1

EC 2.3.2.26

XP_036011610.1

EC 2.3.2.26

XP_036011611.1

EC 2.3.2.26

XP_036011612.1

EC 2.3.2.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_172473.3 → NP_766061.2 E3 ubiquitin-protein ligase HACE1

See identical proteins and their annotated locations for NP_766061.2

Status: VALIDATED

Source sequence(s)

AC135669, AC153847, AK042879

Consensus CDS

CCDS23829.1

UniProtKB/Swiss-Prot

F6VQI5, F7ALT5, Q3U0D9, Q5DTY7, Q8BXY2, Q8R160, Q8R3G4

Related

ENSMUSP00000039206.7, ENSMUST00000037044.13

Conserved Domains (7) summary

smart00248
Location:66 → 93

ANK; ankyrin repeats

smart00119
Location:579 → 902

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:554 → 903

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

cd00204
Location:92 → 217

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

pfam12796
Location:69 → 194

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:199 → 249

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:97 → 128

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

45453911..45588441

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006512634.4 → XP_006512697.1 E3 ubiquitin-protein ligase HACE1 isoform X1

Conserved Domains (3) summary

cd00078
Location:566 → 915

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:97 → 128

ANK; ANK repeat [structural motif]

pfam12796
Location:69 → 194

Ank_2; Ankyrin repeats (3 copies)
XM_006512637.4 → XP_006512700.1 E3 ubiquitin-protein ligase HACE1 isoform X5

Conserved Domains (3) summary

cd00078
Location:566 → 871

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:97 → 128

ANK; ANK repeat [structural motif]

pfam12796
Location:69 → 194

Ank_2; Ankyrin repeats (3 copies)
XM_006512635.5 → XP_006512698.1 E3 ubiquitin-protein ligase HACE1 isoform X2

Conserved Domains (4) summary

COG0666
Location:53 → 177

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00078
Location:536 → 885

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:67 → 98

ANK; ANK repeat [structural motif]

pfam12796
Location:138 → 233

Ank_2; Ankyrin repeats (3 copies)
XM_030244982.2 → XP_030100842.1 E3 ubiquitin-protein ligase HACE1 isoform X4

Conserved Domains (3) summary

COG0666
Location:53 → 190

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00078
Location:524 → 873

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:67 → 98

ANK; ANK repeat [structural motif]
XM_006512638.5 → XP_006512701.1 E3 ubiquitin-protein ligase HACE1 isoform X9

Conserved Domains (3) summary

cd00078
Location:374 → 723

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:66 → 95

ANK; ANK repeat [structural motif]

pfam12796
Location:69 → 161

Ank_2; Ankyrin repeats (3 copies)
XM_036155719.1 → XP_036011612.1 E3 ubiquitin-protein ligase HACE1 isoform X10

Conserved Domains (1) summary

cd00078
Location:293 → 642

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
XM_036155718.1 → XP_036011611.1 E3 ubiquitin-protein ligase HACE1 isoform X7

Conserved Domains (3) summary

COG0666
Location:53 → 190

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00078
Location:524 → 829

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:67 → 98

ANK; ANK repeat [structural motif]
XM_006512636.5 → XP_006512699.1 E3 ubiquitin-protein ligase HACE1 isoform X3

Conserved Domains (3) summary

cd00078
Location:532 → 881

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:63 → 94

ANK; ANK repeat [structural motif]

pfam12796
Location:35 → 160

Ank_2; Ankyrin repeats (3 copies)
XM_017313865.3 → XP_017169354.1 E3 ubiquitin-protein ligase HACE1 isoform X10

Conserved Domains (1) summary

cd00078
Location:293 → 642

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
XM_036155717.1 → XP_036011610.1 E3 ubiquitin-protein ligase HACE1 isoform X6

Conserved Domains (4) summary

COG0666
Location:19 → 143

ANKYR; Ankyrin repeat [Signal transduction mechanisms]

cd00078
Location:502 → 851

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:33 → 64

ANK; ANK repeat [structural motif]

pfam12796
Location:104 → 199

Ank_2; Ankyrin repeats (3 copies)
XM_030244983.2 → XP_030100843.1 E3 ubiquitin-protein ligase HACE1 isoform X8

Conserved Domains (3) summary

cd00078
Location:404 → 753

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...

sd00045
Location:1 → 32

ANK; ANK repeat [structural motif]

pfam12796
Location:6 → 101

Ank_2; Ankyrin repeats (3 copies)