Itch MGI Mouse Gene Detail - MGI:1202301 - itchy, E3 ubiquitin protein ligase

Symbol

Itch
Name

itchy, E3 ubiquitin protein ligase
Synonyms

6720481N21Rik, 8030492O04Rik, AIP4, C230047C07Rik

Feature Type

protein coding gene
IDs

MGI:1202301
NCBI Gene: 16396
Alliance

genome feature page
Transcription Start Sites

7 TSS

Sequence Map

Chr2:154975429-155068775 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 76.94 cM
Mapping Data

2 experiments

SNPs within 2kb

1998 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202301	protein coding gene	Chr2:154975401-155068775 (+)
129S1/SvImJ	ENSMUSG00200026719	protein coding gene	Chr2:151835034-151928890 (+)
A/J	ENSMUSG00195021025	protein coding gene	Chr2:152203110-152296890 (+)
AKR/J	ENSMUSG00220043774	protein coding gene	Chr2:151492659-151586454 (+)
BALB/cJ	ENSMUSG00180043217	protein coding gene	Chr2:151660828-151754966 (+)
C3H/HeJ	ENSMUSG00175047161	protein coding gene	Chr2:152404948-152499079 (+)
C57BL/6NJ	ENSMUSG00215025467	protein coding gene	Chr2:151822890-151916681 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024523	protein coding gene	Chr2:147083942-147176206 (+)
CAST/EiJ	ENSTCUG00005041716	protein coding gene	Chr2:150805797-150912577 (+)
CBA/J	ENSMUSG00210014994	protein coding gene	Chr2:152341439-152435559 (+)
DBA/2J	ENSMUSG00185046690	protein coding gene	Chr2:152036188-152129967 (+)
FVB/NJ	ENSMUSG00205031858	protein coding gene	Chr2:151107811-151201936 (+)
JF1/MsJ	ENSUMUG00000023479	protein coding gene	Chr2:151692152-151785956 (+)
LP/J	ENSMUSG00230043511	protein coding gene	Chr2:153632985-153726838 (+)
NOD/ShiLtJ	ENSMUSG00190042434	protein coding gene	Chr2:151730357-151824478 (+)
NZO/HlLtJ	ENSMUSG00225004522	protein coding gene	Chr2:161664552-161758628 (+)
PWK/PhJ	ENSLUMG00010036075	protein coding gene	Chr2:151636164-151730940 (+)
SPRET/EiJ	ENSMSPG00010029025	protein coding gene	Chr2:154432877-154527463 (+)
WSB/EiJ	ENSIUOG00005044726	protein coding gene	Chr2:151427802-151521895 (+)

Human Ortholog

ITCH, itchy E3 ubiquitin protein ligase

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ITCH, itchy E3 ubiquitin protein ligase
Synonyms

ADMFD, AIF4, AIP4, NAPP1
Links

HGNC:13890

NCBI Gene ID: 83737

UniProt: Q96J02
Chr Location

20q11.22; chr20:34363235-34511773 (+) GRCh38

MGI Vertebrate Homology

Itch stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ITCH
Protein SuperFamily

E3_ub_ligase_SMURF1
Gene Tree

Itch

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Phenotype Summary

67 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
57 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

59
Chemically and radiation induced

2
Chemically induced (ENU)

1
Endonuclease-mediated

4
Gene trapped

47
Targeted

5
Genomic Mutations

2 involving Itch
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

93 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU mutation exhibit increased total IgE levels in the peripheral blood and an enhanced IgE response to the cysteine protease allergen, papain.

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All GO Annotations

124
GO References

27

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

814
Tissues

52
cDNA Data

23
Literature Summary

8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase itch

ZFIN itcha, itchb

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All Sequences

58
RefSeq

7
UniProt

3
CCDS

CCDS38293.1

Ensembl

ENSMUSG00000027598 (Evidence)
NCBI Gene

16396

			Length	Strain/Species	Flank
genomic	ENSMUSG00000027598	Ensembl Gene Model \| MGI Sequence Detail	93347	C57BL/6J	± kb
transcript	ENSMUST00000029126	Ensembl \| MGI Sequence Detail	5159	Not Applicable
polypeptide	ENSMUSP00000029126	Ensembl \| MGI Sequence Detail	864	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000003192 E3 ubiquitin-protein ligase Itchy

(term hierarchy)
PDB

1YIU, 2JO9, 2JOC, 5XMC
EC

2.3.2.26
InterPro Domains

IPR000008 C2 domain

IPR035892 C2 domain superfamily

IPR050409 E3 ubiquitin-protein ligase

IPR024928 E3 ubiquitin-protein ligase, SMURF1 type

IPR000569 HECT domain

IPR035983 HECT, E3 ligase catalytic domain

IPR001202 WW domain

IPR036020 WW domain superfamily
GlyGen

Q8C863 2 sites, 1 N-linked glycan (1 site)

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All nucleic 33

Genomic 4

cDNA 28

Primer pair 1

Antibodies 1

Microarray probesets 5

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MGI:1924982, MGI:2441729, MGI:2443666

Summaries

All 146

Developmental Gene Expression 8

Gene Ontology 27

Phenotypes 57
Earliest

J:24934 Hustad CM, et al., Molecular genetic characterization of six recessive viable alleles of the mouse agouti locus. Genetics. 1995 May;140(1):255-65
Latest

J:361761 Lim K, et al., A novel human fetal lung-derived alveolar organoid model reveals mechanisms of surfactant protein C maturation relevant to interstitial lung disease. EMBO J. 2025 Feb;44(3):639-664

TSS for Itch:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr21062	Chr2:154975406-154975417 (+)	-17 bp
Tssr21063	Chr2:154975421-154975472 (+)	18 bp
Tssr21064	Chr2:155037198-155037245 (+)	61,793 bp
Tssr21065	Chr2:155041536-155041538 (+)	66,108 bp
Tssr21066	Chr2:155059732-155059744 (+)	84,309 bp
Tssr21067	Chr2:155061573-155061578 (+)	86,147 bp
Tssr711	Chr2:155061612-155061613 (+)	86,184 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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