Huwe1 MGI Mouse Gene Detail - MGI:1926884 - HECT, UBA and WWE domain containing 1

Symbol

Huwe1
Name

HECT, UBA and WWE domain containing 1
Synonyms

5430439H10Rik, Arf-bp1, C430014N20Rik, Ib772, LOC382250, mKIAA0312, Mule, Ureb1

Feature Type

protein coding gene
IDs

MGI:1926884
NCBI Gene: 59026
Alliance

gene page
Transcription Start Sites

23 TSS

Sequence Map

ChrX:150583803-150718413 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 68.46 cM
Mapping Data

4 experiments

SNPs within 2kb

1784 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1926884	protein coding gene	ChrX:150583779-150718413 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0036179	protein coding gene	ChrX:149553263-149688073 (+)
A/J	MGP_AJ_G0036155	protein coding gene	ChrX:148744014-148880853 (+)
AKR/J	MGP_AKRJ_G0036081	protein coding gene	ChrX:153552852-153692407 (+)
BALB/cJ	MGP_BALBcJ_G0036146	protein coding gene	ChrX:146931107-147072970 (+)
C3H/HeJ	MGP_C3HHeJ_G0035854	protein coding gene	ChrX:149764355-149900020 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036671	protein coding gene	ChrX:153793944-153931339 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033495	protein coding gene	ChrX:140439842-140577828 (+)
CAST/EiJ	MGP_CASTEiJ_G0035145	protein coding gene	ChrX:129167633-129309811 (+)
CBA/J	MGP_CBAJ_G0035831	protein coding gene	ChrX:158342649-158479585 (+)
DBA/2J	MGP_DBA2J_G0035989	protein coding gene	ChrX:147822066-147957567 (+)
FVB/NJ	MGP_FVBNJ_G0035923	protein coding gene	ChrX:146942843-147078814 (+)
LP/J	MGP_LPJ_G0036080	protein coding gene	ChrX:150637075-150774433 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035959	protein coding gene	ChrX:166483459-166641896 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036706	protein coding gene	ChrX:149065668-149204731 (+)
PWK/PhJ	MGP_PWKPhJ_G0034839	protein coding gene	ChrX:126129558-126268770 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034665	protein coding gene	ChrX:129640768-129782009 (+)
WSB/EiJ	MGP_WSBEiJ_G0035280	protein coding gene	ChrX:147127777-147267007 (+)

Human Ortholog

HUWE1, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

HUWE1, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Synonyms

ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MRXST, MULE, URE-B1, UREB1
Links

HGNC:30892

NCBI Gene ID: 10075

neXtProt AC: NX_Q7Z6Z7

UniProt: Q7Z6Z7
Chr Location

Xp11.22; chrX:53532096-53686752 (-) GRCh38

MGI Vertebrate Homology

Huwe1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: HUWE1
Gene Tree

Huwe1

Diseases

1 with human HUWE1 associations

				Human Disease	Mouse Models
				syndromic X-linked intellectual disability Turner type IDs syndromic X-linked intellectual disability Turner type DOID:0060811 ICD10CM:Q87.8 OMIM:309590 ORDO:3056 ORDO:85328

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

64 phenotypes from 7 alleles in 10 genetic backgrounds
9 phenotypes from multigenic genotypes
39 images
36 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

84
Endonuclease-mediated

1
Gene trapped

75
Targeted

8
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

63 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a conditional allele activated in neurons results in neonatal lethality, poorly developed dentate gyrus, small cerebellum, increased cortex density, and increased neuronal precursor cell proliferation.

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All GO Annotations

43
GO References

9

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

729
Tissues

14
cDNA Data

26
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase huwe1

ZFIN huwe1

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All Sequences

190
RefSeq

89
UniProt

14
CCDS

CCDS41176.1

Ensembl

ENSMUSG00000025261 (Evidence)
NCBI Gene

59026

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025261	Ensembl Gene Model \| MGI Sequence Detail	134611	C57BL/6J	± kb
transcript	ENSMUST00000026292	Ensembl \| MGI Sequence Detail	14579	Not Applicable
polypeptide	ENSMUSP00000026292	Ensembl \| MGI Sequence Detail	4378	Not Applicable

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UniProt

14 Sequences
Protein Ontology

PR:000008845 E3 ubiquitin-protein ligase HUWE1

(term hierarchy)
EC

2.3.2.26
InterPro Domains

IPR011989 Armadillo-like helical

IPR016024 Armadillo-type fold

IPR010309 E3 ubiquitin ligase, domain of unknown function DUF908

IPR010314 E3 ubiquitin ligase, domain of unknown function DUF913

IPR050409 E3 ubiquitin-protein ligase

IPR000569 HECT domain

IPR035983 HECT, E3 ligase catalytic domain

IPR025527 HUWE1/REV1, ubiquitin-binding motif

IPR041918 HUWE1, UBA domain

IPR009060 UBA-like superfamily

IPR015940 Ubiquitin-associated domain

IPR004170 WWE domain

IPR037197 WWE domain superfamily
GlyGen

Q7TMY8 6 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (4 sites)

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All nucleic 27

Genomic 1

cDNA 26

Microarray probesets 9

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MGI:1918622, MGI:2147973, MGI:2148063, MGI:2443454, MGI:2686564

Summaries

All 81

Developmental Gene Expression 7

Gene Ontology 9

Phenotypes 36
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

J:348964 Amici DR, et al., Tight regulation of a nuclear HAPSTR1-HUWE1 pathway essential for mammalian life. Life Sci Alliance. 2024 May;7(5)

TSS for Huwe1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162347	ChrX:150583773-150583808 (+)	-12 bp
Tssr162348	ChrX:150583869-150583908 (+)	86 bp
Tssr162349	ChrX:150584009-150584079 (+)	241 bp
Tssr162350	ChrX:150584140-150584157 (+)	346 bp
Tssr162351	ChrX:150584159-150584199 (+)	376 bp
Tssr5702	ChrX:150584204-150584222 (+)	410 bp
Tssr162352	ChrX:150586232-150586239 (+)	2,433 bp
Tssr162353	ChrX:150586272-150586283 (+)	2,475 bp
Tssr162354	ChrX:150586309-150586372 (+)	2,538 bp
Tssr162355	ChrX:150586395-150586400 (+)	2,595 bp
Tssr162356	ChrX:150586404-150586415 (+)	2,607 bp
Tssr162357	ChrX:150586638-150586669 (+)	2,851 bp
Tssr162359	ChrX:150666479-150666488 (+)	82,681 bp
Tssr162360	ChrX:150685103-150685105 (+)	101,301 bp
Tssr162361	ChrX:150689300-150689314 (+)	105,504 bp
Tssr162362	ChrX:150692536-150692558 (+)	108,744 bp
Tssr162363	ChrX:150692847-150692862 (+)	109,052 bp
Tssr162364	ChrX:150693156-150693170 (+)	109,360 bp
Tssr162365	ChrX:150696835-150696842 (+)	113,036 bp
Tssr162366	ChrX:150702635-150702646 (+)	118,838 bp
Tssr162367	ChrX:150702789-150702804 (+)	118,994 bp
Tssr162368	ChrX:150711249-150711289 (+)	127,466 bp
Tssr162369	ChrX:150717407-150717441 (+)	133,621 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)
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