Hace1 MGI Mouse Gene Detail - MGI:2446110 - HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1

Symbol

Hace1
Name

HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
Synonyms

1700042J16Rik, A730034A22Rik

Feature Type

protein coding gene
IDs

MGI:2446110
NCBI Gene: 209462
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr10:45453925-45588441 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 23.65 cM
Mapping Data

1 experiment

SNPs within 2kb

3397 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2446110	protein coding gene	Chr10:45453911-45588441 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017210	protein coding gene	Chr10:44473467-44610025 (+)
A/J	MGP_AJ_G0017186	protein coding gene	Chr10:43219298-43353284 (+)
AKR/J	MGP_AKRJ_G0017145	protein coding gene	Chr10:43919137-44057193 (+)
BALB/cJ	MGP_BALBcJ_G0017147	protein coding gene	Chr10:43275668-43402972 (+)
C3H/HeJ	MGP_C3HHeJ_G0016971	protein coding gene	Chr10:44210320-44350529 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017605	protein coding gene	Chr10:45839881-45991038 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015300	protein coding gene	Chr10:41087875-41213399 (+)
CAST/EiJ	MGP_CASTEiJ_G0016545	protein coding gene	Chr10:44475686-44611385 (+)
CBA/J	MGP_CBAJ_G0016942	protein coding gene	Chr10:47877069-48034569 (+)
DBA/2J	MGP_DBA2J_G0017047	protein coding gene	Chr10:42639102-42774811 (+)
FVB/NJ	MGP_FVBNJ_G0017041	protein coding gene	Chr10:42139222-42267414 (+)
LP/J	MGP_LPJ_G0017122	protein coding gene	Chr10:44508455-44650635 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017070	protein coding gene	Chr10:48545680-48720980 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017641	protein coding gene	Chr10:43905972-44044370 (+)
PWK/PhJ	MGP_PWKPhJ_G0016324	protein coding gene	Chr10:42599074-42726960 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016109	protein coding gene	Chr10:43689894-43829807 (+)
WSB/EiJ	MGP_WSBEiJ_G0016608	protein coding gene	Chr10:44140699-44274434 (+)

Human Ortholog

HACE1, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HACE1, HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
Synonyms

SPPRS
Links

HGNC:21033

NCBI Gene ID: 57531

neXtProt AC: NX_Q8IYU2

UniProt: Q8IYU2
Chr Location

6q16.3; chr6:104728094-104859919 (-) GRCh38

MGI Vertebrate Homology

Hace1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HACE1
Gene Tree

Hace1

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Phenotype Summary

5 phenotypes from 2 alleles in 2 genetic backgrounds
21 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

7
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Hace1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

55 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased spontaneous and induced tumors.

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All GO Annotations

30
GO References

5

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

740
Tissues

34
cDNA Data

39
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase hace1

ZFIN hace1

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All Sequences

78
RefSeq

30
UniProt

4
CCDS

CCDS23829.1

Ensembl

ENSMUSG00000038822 (Evidence)
NCBI Gene

209462

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038822	Ensembl Gene Model \| MGI Sequence Detail	134517	C57BL/6J	± kb
transcript	ENSMUST00000037044	Ensembl \| MGI Sequence Detail	3785	Not Applicable
polypeptide	ENSMUSP00000039206	Ensembl \| MGI Sequence Detail	909	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000008430 E3 ubiquitin-protein ligase HACE1

(term hierarchy)
EC

2.3.2.26
InterPro Domains

IPR002110 Ankyrin repeat

IPR050776 Ankyrin Repeat and Cyclin-Dependent Kinase Inhibitor

IPR036770 Ankyrin repeat-containing domain superfamily

IPR050409 E3 ubiquitin-protein ligase

IPR000569 HECT domain

IPR035983 HECT, E3 ligase catalytic domain

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All nucleic 39

cDNA 39

Microarray probesets 6

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MGI:1920541, MGI:2444231

Summaries

All 52

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 21
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Hace1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr93194	Chr10:45453907-45454010 (+)	34 bp
Tssr93195	Chr10:45454012-45454024 (+)	93 bp
Tssr93196	Chr10:45509930-45509933 (+)	56,007 bp
Tssr93197	Chr10:45510670-45510692 (+)	56,756 bp
Tssr93198	Chr10:45510733-45510736 (+)	56,810 bp
Tssr93199	Chr10:45562091-45562093 (+)	108,167 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 12/17/2024 MGI 6.24