Hectd1 HECT domain E3 ubiquitin protein ligase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hectd1provided by MGI
Official Full Name: HECT domain E3 ubiquitin protein ligase 1provided by MGI
Primary source: MGI:MGI:2384768
See related: Ensembl:ENSMUSG00000035247 AllianceGenome:MGI:2384768
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: opm; b2b327Clo; A630086P08Rik
Summary: Enables ubiquitin protein ligase activity. Acts upstream of or within several processes, including animal organ development; negative regulation of protein localization to plasma membrane; and protein ubiquitination. Is expressed in several structures, including extraembryonic component; genitourinary system; heart; hemolymphoid system gland; and lung. Orthologous to human HECTD1 (HECT domain E3 ubiquitin protein ligase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 17.4), liver E14 (RPKM 15.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 12 B3; 12 22.11 cM

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	12	NC_000078.7 (51790504..51876540, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	12	NC_000078.6 (51743721..51829757, complement)

Chromosome 12 - NC_000078.7 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?

HECTD1-Mediated Ubiquitination and Degradation of Rubicon Regulates Autophagy and Osteoarthritis Pathogenesis.
Title: HECTD1-Mediated Ubiquitination and Degradation of Rubicon Regulates Autophagy and Osteoarthritis Pathogenesis.
Vitamin C Inhibits Ubiquitination of Glutamate Transporter 1 (GLT-1) in Astrocytes by Downregulating HECTD1.
Title: Vitamin C Inhibits Ubiquitination of Glutamate Transporter 1 (GLT-1) in Astrocytes by Downregulating HECTD1.
Downregulation of circular RNA HECTD1 induces neuroprotection against ischemic stroke through the microRNA-133b/TRAF3 pathway.
Title: Downregulation of circular RNA HECTD1 induces neuroprotection against ischemic stroke through the microRNA-133b/TRAF3 pathway.
the expression of Hectd1 was regulated by insulin and by both heat and hypoxia. Our studies reveal that Hectd1 is indispensable for normal embryogenesis and fetal survival.
Title: Hectd1 is essential for embryogenesis in mice.
SiO2 concomitantly increased circHECTD1 expression, which, in turn, inhibited HECTD1 protein expression.
Title: circHECTD1 promotes the silica-induced pulmonary endothelial-mesenchymal transition via HECTD1.
HECTD1 is a novel regulator of retinoic acid signaling required for proper aortic arch development.
Title: The ubiquitin ligase HECTD1 promotes retinoic acid signaling required for development of the aortic arch.
HECTD1 may be involved in the regulation of ABCA1-mediated cholesterol export from unloaded macrophages to apoA-I.
Title: The E3 ubiquitin ligase, HECTD1, is involved in ABCA1-mediated cholesterol export from macrophages.
Hectd1 regulates the protein level of IQGAP1 through ubiquitination.
Title: HECTD1 controls the protein level of IQGAP1 to regulate the dynamics of adhesive structures.
Hectd1 is required for development of the labyrinthine zone of the mouse placenta.
Title: Abnormal labyrinthine zone in the Hectd1-null placenta.
Hectd1 is required for development of multiple cell types within the junctional zone of the placenta.
Title: Hectd1 is required for development of the junctional zone of the placenta.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Associated conditions

Description	Tests
open mind GeneReviews: Not available

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (2)
Gene trapped (3) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236841

AI844876 (e-PCR)
- UniSTS:165821

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within aorta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart valve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within natural killer cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein K63-linked ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein K63-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within protein K63-linked ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein autoubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within spongiotrophoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within trophoblast giant cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ventricular septum development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nuclear speck	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase HECTD1

Names: HECT domain containing 1; HECT domain-containing protein 1; HECT-type E3 ubiquitin transferase HECTD1; protein open mind

NP_001392110.1

EC 2.3.2.26

NP_001392111.1

EC 2.3.2.26

NP_001392112.1

EC 2.3.2.26

NP_001392113.1

EC 2.3.2.26

NP_001392114.1

EC 2.3.2.26

NP_001392115.1

EC 2.3.2.26

NP_001392116.1

EC 2.3.2.26

NP_659037.2

EC 2.3.2.26

XP_011242351.1

EC 2.3.2.26

XP_011242352.1

EC 2.3.2.26

XP_036013175.1

EC 2.3.2.26

XP_036013180.1

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_001405181.1 → NP_001392110.1 E3 ubiquitin-protein ligase HECTD1 isoform 2

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405182.1 → NP_001392111.1 E3 ubiquitin-protein ligase HECTD1 isoform 3

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405183.1 → NP_001392112.1 E3 ubiquitin-protein ligase HECTD1 isoform 4

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405184.1 → NP_001392113.1 E3 ubiquitin-protein ligase HECTD1 isoform 5

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405185.1 → NP_001392114.1 E3 ubiquitin-protein ligase HECTD1 isoform 6

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405186.1 → NP_001392115.1 E3 ubiquitin-protein ligase HECTD1 isoform 7

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_001405187.1 → NP_001392116.1 E3 ubiquitin-protein ligase HECTD1 isoform 8

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

UniProtKB/Swiss-Prot

Q69ZR2
NM_144788.3 → NP_659037.2 E3 ubiquitin-protein ligase HECTD1 isoform 1

See identical proteins and their annotated locations for NP_659037.2

Status: VALIDATED

Source sequence(s)

AC157213, AC159644

Consensus CDS

CCDS49064.1

UniProtKB/Swiss-Prot

Q69ZR2

UniProtKB/TrEMBL

F8WIE5

Related

ENSMUSP00000046766.9, ENSMUST00000042052.9

Conserved Domains (7) summary

smart00119
Location:2155 → 2607

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:2131 → 2608

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:369 → 479

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 ...

pfam06701
Location:1277 → 1335

MIB_HERC2; Mib_herc2

pfam12796
Location:366 → 457

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:396 → 426

ANK; ANK repeat [structural motif]

cl23730
Location:1107 → 1240

F5_F8_type_C; F5/8 type C 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_000078.7 Reference GRCm39 C57BL/6J

Range

51790504..51876540 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157282.1 → XP_036013175.1 E3 ubiquitin-protein ligase HECTD1 isoform X4

UniProtKB/Swiss-Prot

Q69ZR2

Conserved Domains (6) summary

cd00078
Location:2083 → 2560

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:396 → 426

ANK; ANK repeat [structural motif]

pfam06701
Location:1276 → 1320

MIB_HERC2; Mib_herc2

pfam07738
Location:1106 → 1239

Sad1_UNC; Sad1 / UNC-like C-terminal

pfam12796
Location:366 → 457

Ank_2; Ankyrin repeats (3 copies)

pfam18410
Location:1844 → 1917

BTHB; Basic tilted helix bundle domain
XM_011244049.3 → XP_011242351.1 E3 ubiquitin-protein ligase HECTD1 isoform X1

UniProtKB/Swiss-Prot

Q69ZR2

Conserved Domains (6) summary

cd00078
Location:2130 → 2607

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:396 → 426

ANK; ANK repeat [structural motif]

pfam06701
Location:1276 → 1334

MIB_HERC2; Mib_herc2

pfam07738
Location:1106 → 1239

Sad1_UNC; Sad1 / UNC-like C-terminal

pfam12796
Location:366 → 457

Ank_2; Ankyrin repeats (3 copies)

pfam18410
Location:1891 → 1964

BTHB; Basic tilted helix bundle domain
XM_036157287.1 → XP_036013180.1 E3 ubiquitin-protein ligase HECTD1 isoform X9

UniProtKB/Swiss-Prot

Q69ZR2

Conserved Domains (5) summary

cd00078
Location:2021 → 2498

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:396 → 426

ANK; ANK repeat [structural motif]

pfam06701
Location:1277 → 1321

MIB_HERC2; Mib_herc2

pfam07738
Location:1107 → 1240

Sad1_UNC; Sad1 / UNC-like C-terminal

pfam12796
Location:366 → 457

Ank_2; Ankyrin repeats (3 copies)
XM_011244050.3 → XP_011242352.1 E3 ubiquitin-protein ligase HECTD1 isoform X2

UniProtKB/Swiss-Prot

Q69ZR2

Conserved Domains (6) summary

cd00078
Location:2129 → 2606

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:396 → 426

ANK; ANK repeat [structural motif]

pfam06701
Location:1277 → 1335

MIB_HERC2; Mib_herc2

pfam07738
Location:1107 → 1240

Sad1_UNC; Sad1 / UNC-like C-terminal

pfam12796
Location:366 → 457

Ank_2; Ankyrin repeats (3 copies)

pfam18410
Location:1890 → 1963

BTHB; Basic tilted helix bundle domain