Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Herc2provided by MGI
Official Full Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2provided by MGI
Primary source: MGI:MGI:103234
See related: Ensembl:ENSMUSG00000030451 AllianceGenome:MGI:103234
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: rjs; jdf2; D15F32S1h; mKIAA0393; D7H15F32S1; D7H15F37S1
Summary: Predicted to enable SUMO binding activity; ubiquitin protein ligase activity; and ubiquitin protein ligase binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within negative regulation of Notch signaling pathway; neuron differentiation; and spermatogenesis. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; peripheral nervous system ganglion; and spleen. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 38 and pigmentation disease. Orthologous to human HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 12.1), cortex adult (RPKM 11.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 B5; 7 33.42 cM

Exon count:: 93

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (55699872..55884373)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (56050124..56231800)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
Title: HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
identified HERC2, a HECT domain-containing E3 ligase, as being responsible for polyubiquitination of USP33.
Title: Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.
HERC2 acts as a regulator of E6AP.
Title: Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.

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Variation

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Alleles

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

Chemically induced (ENU) (11) 1 citation
Endonuclease-mediated (4)
Gene trapped (1)
Spontaneous (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC311424P1 (e-PCR)
- UniSTS:272901

RH125907 (e-PCR)
- UniSTS:162629

px-50g7 (e-PCR)
- UniSTS:257891

AF061529 (e-PCR)
- UniSTS:208125

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SUMO binding	ISO Inferred from Sequence Orthology more info
enables SUMO binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISO Inferred from Sequence Orthology more info
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein ubiquitination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	HDA more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase HERC2

Names: HECT domain and RCC1-like domain-containing protein 2; HECT-type E3 ubiquitin transferase HERC2; hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2; probable E3 ubiquitin-protein ligase HERC2

NP_001347009.1

EC 2.3.2.26

NP_034548.2

EC 2.3.2.26

XP_006540700.1

EC 2.3.2.26

XP_006540702.1

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_001360080.1 → NP_001347009.1 E3 ubiquitin-protein ligase HERC2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AC102121, AC102150

Consensus CDS

CCDS21318.1

UniProtKB/Swiss-Prot

E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171

UniProtKB/TrEMBL

C6EQH2

Related

ENSMUSP00000131573.2, ENSMUST00000164095.3

Conserved Domains (9) summary

cd08664
Location:2766 → 2911

APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)

COG5184
Location:2957 → 3323

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd00078
Location:4423 → 4794

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 ...

cd02344
Location:2707 → 2751

ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...

cd14402
Location:2461 → 2508

UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins

pfam00173
Location:1212 → 1283

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

pfam06701
Location:1871 → 1930

MIB_HERC2; Mib_herc2

pfam11515
Location:2555 → 2632

Cul7; Mouse development and cellular proliferation protein Cullin-7

pfam18346
Location:2640 → 2697

SH3_15; Mind bomb SH3 repeat domain
NM_010418.2 → NP_034548.2 E3 ubiquitin-protein ligase HERC2

See identical proteins and their annotated locations for NP_034548.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AF061529, AF071173, AK148361, BP754028, BY241058

Consensus CDS

CCDS21318.1

UniProtKB/Swiss-Prot

E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171

UniProtKB/TrEMBL

C6EQH2

Related

ENSMUSP00000075579.7, ENSMUST00000076226.13

Conserved Domains (9) summary

cd08664
Location:2766 → 2911

APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)

COG5184
Location:2957 → 3323

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd00078
Location:4423 → 4794

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 ...

cd02344
Location:2707 → 2751

ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...

cd14402
Location:2461 → 2508

UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins

pfam00173
Location:1212 → 1283

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

pfam06701
Location:1871 → 1930

MIB_HERC2; Mib_herc2

pfam11515
Location:2555 → 2632

Cul7; Mouse development and cellular proliferation protein Cullin-7

pfam18346
Location:2640 → 2697

SH3_15; Mind bomb SH3 repeat domain

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_000073.7 Reference GRCm39 C57BL/6J

Range

55699872..55884373

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006540639.3 → XP_006540702.1 E3 ubiquitin-protein ligase HERC2 isoform X2

UniProtKB/TrEMBL

C6EQH2

Related

ENSMUSP00000145997.2, ENSMUST00000205303.2

Conserved Domains (9) summary

cd08664
Location:2766 → 2911

APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)

COG5184
Location:2957 → 3323

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd00078
Location:4387 → 4758

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 ...

cd02344
Location:2707 → 2751

ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...

cd14402
Location:2461 → 2508

UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins

pfam00173
Location:1212 → 1283

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

pfam06701
Location:1871 → 1930

MIB_HERC2; Mib_herc2

pfam11515
Location:2555 → 2632

Cul7; Mouse development and cellular proliferation protein Cullin-7

pfam18346
Location:2640 → 2697

SH3_15; Mind bomb SH3 repeat domain
XM_006540637.4 → XP_006540700.1 E3 ubiquitin-protein ligase HERC2 isoform X1

See identical proteins and their annotated locations for XP_006540700.1

UniProtKB/Swiss-Prot

E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171

UniProtKB/TrEMBL

C6EQH2

Conserved Domains (9) summary

cd08664
Location:2766 → 2911

APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)

COG5184
Location:2957 → 3323

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

cd00078
Location:4423 → 4794

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 ...

cd02344
Location:2707 → 2751

ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...

cd14402
Location:2461 → 2508

UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins

pfam00173
Location:1212 → 1283

Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

pfam06701
Location:1871 → 1930

MIB_HERC2; Mib_herc2

pfam11515
Location:2555 → 2632

Cul7; Mouse development and cellular proliferation protein Cullin-7

pfam18346
Location:2640 → 2697

SH3_15; Mind bomb SH3 repeat domain