Hectd1 MGI Mouse Gene Detail - MGI:2384768 - HECT domain E3 ubiquitin protein ligase 1

Symbol

Hectd1
Name

HECT domain E3 ubiquitin protein ligase 1
Synonyms

A630086P08Rik, b2b327Clo, MGC:12070, opm

Feature Type

protein coding gene
IDs

MGI:2384768
NCBI Gene: 207304
Alliance

gene page
Transcription Start Sites

14 TSS

Sequence Map

Chr12:51790505-51876319 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 22.11 cM
Mapping Data

4 experiments

SNPs within 2kb

2303 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384768	protein coding gene	Chr12:51790504-51876540 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0019727	protein coding gene	Chr12:50555744-50645541 (-)
A/J	MGP_AJ_G0019689	protein coding gene	Chr12:48770281-48857825 (-)
AKR/J	MGP_AKRJ_G0019660	protein coding gene	Chr12:50233802-50323931 (-)
BALB/cJ	MGP_BALBcJ_G0019667	protein coding gene	Chr12:49053230-49142608 (-)
C3H/HeJ	MGP_C3HHeJ_G0019470	protein coding gene	Chr12:50338721-50433701 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0020115	protein coding gene	Chr12:52124823-52220034 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017738	protein coding gene	Chr12:47159426-47248336 (-)
CAST/EiJ	MGP_CASTEiJ_G0019023	protein coding gene	Chr12:45375103-45465668 (-)
CBA/J	MGP_CBAJ_G0019442	protein coding gene	Chr12:53905468-54008470 (-)
DBA/2J	MGP_DBA2J_G0019556	protein coding gene	Chr12:48632431-48721800 (-)
FVB/NJ	MGP_FVBNJ_G0019545	protein coding gene	Chr12:48067437-48155117 (-)
LP/J	MGP_LPJ_G0019628	protein coding gene	Chr12:50589433-50680111 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019581	protein coding gene	Chr12:55543287-55635139 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020153	protein coding gene	Chr12:49726937-49818008 (-)
PWK/PhJ	MGP_PWKPhJ_G0018790	protein coding gene	Chr12:43210211-43297137 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0018584	protein coding gene	Chr12:44318702-44409773 (-)
WSB/EiJ	MGP_WSBEiJ_G0019074	protein coding gene	Chr12:50211118-50304834 (-)

Human Ortholog

HECTD1, HECT domain E3 ubiquitin protein ligase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HECTD1, HECT domain E3 ubiquitin protein ligase 1
Synonyms

EULIR
Links

HGNC:20157

NCBI Gene ID: 25831

UniProt: Q9ULT8
Chr Location

14q12; chr14:31100117-31207804 (-) GRCh38

MGI Vertebrate Homology

Hectd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HECTD1
Gene Tree

Hectd1

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Phenotype Summary

31 phenotypes from 4 alleles in 7 genetic backgrounds
12 images
32 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

42
Chemically induced (ENU)

2
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

30
Targeted

6
Genomic Mutations

1 involving Hectd1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

141 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice that are homozygous for either a gene trapped or an ENU-induced allele exhibit exencephaly associated with impaired head mesenchyme development and neural tube closure, and show eye and cranial vault dysplasia. Homozygotes for another ENU-induced allele show congenital cardiovascular defects.

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All GO Annotations

35
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

767
Tissues

43
cDNA Data

215
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hectd1

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All Sequences

85
RefSeq

24
UniProt

11
CCDS

CCDS49064.1

Ensembl

ENSMUSG00000035247 (Evidence)
NCBI Gene

207304

			Length	Strain/Species	Flank
genomic	ENSMUSG00000035247	Ensembl Gene Model \| MGI Sequence Detail	85815	C57BL/6J	± kb
transcript	ENSMUST00000042052	Ensembl \| MGI Sequence Detail	8988	Not Applicable
polypeptide	ENSMUSP00000046766	Ensembl \| MGI Sequence Detail	2610	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000008502 E3 ubiquitin-protein ligase HECTD1

(term hierarchy)
EC

2.3.2.26
InterPro Domains

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR045322 E3 ubiquitin-protein ligase HECTD1/TRIP12-like

IPR041200 FKBP3, basic tilted helix bundle domain

IPR008979 Galactose-binding-like domain superfamily

IPR000569 HECT domain

IPR035983 HECT, E3 ligase catalytic domain

IPR010606 Mib-herc2

IPR037252 Mib/herc2 domain superfamily

IPR012919 SUN domain
GlyGen

Q69ZR2 12 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (8 sites)

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All nucleic 218

cDNA 215

Primer pair 3

Microarray probesets 5

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MGI:1276115, MGI:2144896, MGI:2443495, MGI:5313701

Summaries

All 63

Developmental Gene Expression 6

Gene Ontology 13

Phenotypes 32
Earliest

J:48268 Kasarskis A, et al., A phenotype-based screen for embryonic lethal mutations in the mouse. Proc Natl Acad Sci U S A. 1998 Jun 23;95(13):7485-90
Latest

J:371555 Zerafati-Jahromi G, et al., Sequence variants in HECTD1 result in a variable neurodevelopmental disorder. Am J Hum Genet. 2025 Jan 23;

TSS for Hectd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr116268	Chr12:51876964-51877004 (-)	-665 bp
Tssr116267	Chr12:51876872-51876888 (-)	-561 bp
Tssr116266	Chr12:51876642-51876653 (-)	-329 bp
Tssr116265	Chr12:51876519-51876586 (-)	-234 bp
Tssr116264	Chr12:51876378-51876393 (-)	-67 bp
Tssr116263	Chr12:51876345-51876372 (-)	-40 bp
Tssr116262	Chr12:51876308-51876336 (-)	-3 bp
Tssr116261	Chr12:51876281-51876300 (-)	28 bp
Tssr116260	Chr12:51876064-51876140 (-)	217 bp
Tssr116259	Chr12:51849408-51849435 (-)	26,897 bp
Tssr116258	Chr12:51847547-51847560 (-)	28,765 bp
Tssr116257	Chr12:51820361-51820376 (-)	55,950 bp
Tssr116256	Chr12:51820245-51820270 (-)	56,061 bp
Tssr116255	Chr12:51808884-51808888 (-)	67,433 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/30/2025 MGI 6.24