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Aliases for ITCH Gene

Aliases for ITCH Gene

  • Itchy E3 Ubiquitin Protein Ligase 2 3 5
  • HECT-Type E3 Ubiquitin Transferase Itchy Homolog 3 4
  • NFE2-Associated Polypeptide 1 3 4
  • NAPP1 3 4
  • AIP4 3 4
  • Itchy (Mouse Homolog) E3 Ubiquitin Protein Ligase 2
  • Itchy E3 Ubiquitin Protein Ligase Homolog (Mouse) 2
  • E3 Ubiquitin-Protein Ligase Itchy Homolog 3
  • Itchy E3 Ubiquitin Protein Ligase Homolog 3
  • Atrophin-1 Interacting Protein 4 3
  • Atrophin-1-Interacting Protein 4 4
  • EC 2.3.2.26 4
  • EC 6.3.2 61
  • ADMFD 3
  • AIF4 3
  • Itch 4

External Ids for ITCH Gene

Previous GeneCards Identifiers for ITCH Gene

  • GC20P032709
  • GC20P033619
  • GC20P033666
  • GC20P032414
  • GC20P032951
  • GC20P029732

Summaries for ITCH Gene

Entrez Gene Summary for ITCH Gene

  • This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for ITCH Gene

ITCH (Itchy E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with ITCH include Autoimmune Disease, Multisystem, With Facial Dysmorphism and Itch E3 Ubiquitin Ligase Deficiency. Among its related pathways are Notch signaling pathway (KEGG) and Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways. GO annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is WWP1.

UniProtKB/Swiss-Prot for ITCH Gene

  • Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. It catalyzes Lys-29-, Lys-48- and Lys-63-linked ubiquitin conjugation. It is involved in the control of inflammatory signaling pathways. Is an essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of the complex after TNF stimulation. Once the complex is formed, TNFAIP3 deubiquitinates Lys-63 polyubiquitin chains on RIPK1 and catalyzes the formation of Lys-48-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1. Ubiquitinates RIPK2 by Lys-63-linked conjugation and influences NOD2-dependent signal transduction pathways. Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response. Ubiquitinates NFE2 by Lys-63 linkages and is implicated in the control of the development of hematopoietic lineages. Critical regulator of T-helper (TH2) cytokine development through its ability to induce JUNB ubiquitination and degradation (By similarity). Ubiquitinates SNX9. Ubiquitinates CXCR4 and HGS/HRS and regulates sorting of CXCR4 to the degradative pathway. It is involved in the negative regulation of MAVS-dependent cellular antiviral responses. Ubiquitinates MAVS through Lys-48-linked conjugation resulting in MAVS proteasomal degradation. Ubiquitinates MAP3K7 through Lys-48-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP. Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID. Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through Lys-29-linked polyubiquitination. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ITCH Gene

Genomics for ITCH Gene

Regulatory Elements for ITCH Gene

Enhancers for ITCH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G034522 1.6 Ensembl ENCODE dbSUPER 11 +161.8 161792 5.9 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 MAP1LC3A ITCH TP53INP2 ENSG00000231034 PIGU NCOA6 GC20M034527 ENSG00000206582 GC20P034523
GH20G034404 1.3 Ensembl ENCODE dbSUPER 11.6 +42.1 42093 1.3 SAP130 JUN ZMYM3 MAX ZNF384 ETV6 NR2F6 FOS HOMEZ MIXL1 MAP1LC3A ITCH CDC42P1 ITCH-AS1
GH20G034407 1.2 ENCODE dbSUPER 11.8 +44.8 44797 1.0 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 SP5 MAP1LC3A ITCH-AS1 ITCH-IT1 ITCH TP53INP2 CDC42P1
GH20G034514 1.4 ENCODE dbSUPER 10 +152.8 152810 3.1 PKNOX1 MLX CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 MAP1LC3A PIGU TRPC4AP ZNF341-AS1 EIF6 NCOA6 TP53INP2 ITCH DYNLRB1 GC20M034509
GH20G034414 1 ENCODE dbSUPER 12.9 +52.0 51998 0.9 PKNOX1 CHD4 ZNF48 CBX5 EED ETV6 RELB IKZF2 MAFK CREM ITCH-AS1 ITCH-IT1 ITCH CDC42P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ITCH on UCSC Golden Path with GeneCards custom track

Promoters for ITCH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136399 565 1601 HDGF MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for ITCH Gene

Chromosome:
20
Start:
34,363,235 bp from pter
End:
34,511,393 bp from pter
Size:
148,159 bases
Orientation:
Plus strand

Genomic View for ITCH Gene

Genes around ITCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ITCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ITCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ITCH Gene

Proteins for ITCH Gene

  • Protein details for ITCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96J02-ITCH_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase Itchy homolog
    Protein Accession:
    Q96J02
    Secondary Accessions:
    • A6NEW4
    • B4E234
    • E1P5P3
    • F5H217
    • O43584
    • Q5QP37
    • Q5TEL0
    • Q96F66
    • Q9BY75
    • Q9H451
    • Q9H4U5

    Protein attributes for ITCH Gene

    Size:
    903 amino acids
    Molecular mass:
    102803 Da
    Quaternary structure:
    • Monomer (By similarity). Interacts (via its WW domains) with OCNL, NOTCH1 AND JUN. Interacts (via WW domain 2) with N4BP1; leading to inhibiting its E3 ubiquitin-protein ligase activity. Interacts with JUNB; the interaction promotes ITCH-mediated ubiquitination and degradation of JUNB. Interacts with NDFIP1 and NDFIP2; this interaction activates the E3 ubiquitin-protein ligase and may induce its recruitment to exosomes (By similarity). Interacts with ARHGEF7 (PubMed:17652093). Interacts with RNF11. Interacts (via the WW 1 domain) with NFE2 (via the PXY motif 1); the interaction promotes Lys-63-linked ubiquitination of NFE2, retains it in the cytoplasm and prevents its transactivation activity. Interacts with FYN; the interaction phosphorylates ITCH on Tyr-420 decreasing binding of JUNB. Interacts (via WW domains) with CXCR4 (via C-terminus); the interaction depends on CXCR4 phosphorylation. Interacts (via WW domains) with PCBP2 within a complex containing ITCH, MAVS and PCBP2. Interacts (via WW domains) with TXNIP (via C-terminus). Interacts with p15 BID. Interacts with ERBB4, DTX1, SPG20, SNX9 and SNX18. Interacts (via its WW domains) with ATN1. Interacts with Epstein-Barr virus LMP2A. Interacts (via WW domains) with SGK3. Interacts with OTUD7B. Interacts with PI4K2A (PubMed:23146885). Interacts with ARRDC4 (PubMed:23236378). Part of a complex containing ITCH, NDFIP1 and MAP3K7 (By similarity). Interacts with UBE2L3; the interaction is mediated by NDFIP1 (PubMed:25632008).

    Three dimensional structures from OCA and Proteopedia for ITCH Gene

    Alternative splice isoforms for ITCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITCH Gene

Selected DME Specific Peptides for ITCH Gene

Q96J02:
  • LQINPAS
  • PLPPGWE
  • TQWEDPR
  • HGKFIDTGF
  • GSNGPQKFCI
  • TLFEDSFQQIM
  • FIGRFIAMAL
  • EFYNSLIW
  • REWFFLLSHEVLNPMYCLFEYA
  • AREWFFLLS
  • RTTTWQRPT
  • HTCFNRLDLPPY
  • RLLQFVTG

Post-translational modifications for ITCH Gene

  • On T-cell activation, phosphorylation by the JNK cascade on serine and threonine residues surrounding the PRR domain accelerates the ubiquitination and degradation of JUN and JUNB. The increased ITCH catalytic activity due to phosphorylation by JNK1 may occur due to a conformational change disrupting the interaction between the PRR/WW motifs domain and the HECT domain and, thus exposing the HECT domain (By similarity). Phosphorylation by FYN reduces interaction with JUNB and negatively controls JUN ubiquitination and degradation.
  • Ubiquitinated; autopolyubiquitination with Lys-63 linkages which does not lead to protein degradation.
  • Ubiquitination at posLast=3434, isoforms=266, posLast=432432, posLast=446446, isoforms=2, 3478, posLast=513513, and posLast=861861
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ITCH (ITCH)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ITCH

Domains & Families for ITCH Gene

Gene Families for ITCH Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ITCH: view

No data available for UniProtKB/Swiss-Prot for ITCH Gene

Function for ITCH Gene

Molecular function for ITCH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by NDFIP1- and NDFIP2-binding.
UniProtKB/Swiss-Prot Function:
Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. It catalyzes Lys-29-, Lys-48- and Lys-63-linked ubiquitin conjugation. It is involved in the control of inflammatory signaling pathways. Is an essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways. Promotes the association of the complex after TNF stimulation. Once the complex is formed, TNFAIP3 deubiquitinates Lys-63 polyubiquitin chains on RIPK1 and catalyzes the formation of Lys-48-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1. Ubiquitinates RIPK2 by Lys-63-linked conjugation and influences NOD2-dependent signal transduction pathways. Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response. Ubiquitinates NFE2 by Lys-63 linkages and is implicated in the control of the development of hematopoietic lineages. Critical regulator of T-helper (TH2) cytokine development through its ability to induce JUNB ubiquitination and degradation (By similarity). Ubiquitinates SNX9. Ubiquitinates CXCR4 and HGS/HRS and regulates sorting of CXCR4 to the degradative pathway. It is involved in the negative regulation of MAVS-dependent cellular antiviral responses. Ubiquitinates MAVS through Lys-48-linked conjugation resulting in MAVS proteasomal degradation. Ubiquitinates MAP3K7 through Lys-48-linked conjugation (By similarity). Involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP. Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID. Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through Lys-29-linked polyubiquitination. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046).

Enzyme Numbers (IUBMB) for ITCH Gene

Gene Ontology (GO) - Molecular Function for ITCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity NAS,TAS 10940313
GO:0005515 protein binding IPI 9647693
GO:0016740 transferase activity IEA --
GO:0016874 ligase activity IEA --
GO:0019787 ubiquitin-like protein transferase activity TAS --
genes like me logo Genes that share ontologies with ITCH: view
genes like me logo Genes that share phenotypes with ITCH: view

Human Phenotype Ontology for ITCH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ITCH Gene

MGI Knock Outs for ITCH:
  • Itch tm1b(EUCOMM)Hmgu
  • Itch tm1(NCOM)Cmhd

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ITCH Gene

Localization for ITCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ITCH Gene

Cell membrane. Cytoplasm. Nucleus. Note=Associates with endocytic vesicles. May be recruited to exosomes by NDFIP1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ITCH gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
lysosome 2
endosome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ITCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA,IDA 14602072
genes like me logo Genes that share ontologies with ITCH: view

Pathways & Interactions for ITCH Gene

genes like me logo Genes that share pathways with ITCH: view

UniProtKB/Swiss-Prot Q96J02-ITCH_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for ITCH Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ITCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001558 regulation of cell growth NAS 9462742
GO:0002376 immune system process IEA --
GO:0002669 positive regulation of T cell anergy IEA --
GO:0006511 ubiquitin-dependent protein catabolic process NAS 9462742
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with ITCH: view

Drugs & Compounds for ITCH Gene

(28) Drugs for ITCH Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aprepitant Approved, Investigational Pharma Antagonist Substance P (SP) inhibitor 163
Diphenhydramine Approved Pharma Antagonist 234
Fexofenadine Approved Pharma 63
Fosaprepitant Approved Pharma Neurokinin-1 antagonist 163
Histamine Approved, Investigational Pharma Full agonist, Agonist 1050
genes like me logo Genes that share compounds with ITCH: view

Transcripts for ITCH Gene

Unigene Clusters for ITCH Gene

Itchy E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ITCH Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - - -
SP3:
SP4:

ExUns: 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:

Relevant External Links for ITCH Gene

GeneLoc Exon Structure for
ITCH
ECgene alternative splicing isoforms for
ITCH

Expression for ITCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ITCH Gene

Protein differential expression in normal tissues from HIPED for ITCH Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.5), Cervix (6.8), Adrenal (6.5), and Monocytes (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ITCH Gene



Protein tissue co-expression partners for ITCH Gene

NURSA nuclear receptor signaling pathways regulating expression of ITCH Gene:

ITCH

SOURCE GeneReport for Unigene cluster for ITCH Gene:

Hs.632272

mRNA Expression by UniProt/SwissProt for ITCH Gene:

Q96J02-ITCH_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ITCH Gene

  • Nervous system(4.5)
  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ITCH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • neck
  • outer ear
  • skull
Abdomen:
  • liver
  • spleen
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ITCH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ITCH Gene

Orthologs for ITCH Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ITCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ITCH 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ITCH 34 35
  • 94.43 (n)
cow
(Bos Taurus)
Mammalia ITCH 34 35
  • 93.66 (n)
mouse
(Mus musculus)
Mammalia Itch 34 16 35
  • 91.3 (n)
rat
(Rattus norvegicus)
Mammalia Itch 34
  • 90.81 (n)
oppossum
(Monodelphis domestica)
Mammalia ITCH 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ITCH 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ITCH 34 35
  • 80.95 (n)
lizard
(Anolis carolinensis)
Reptilia ITCH 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia itch 34
  • 72.43 (n)
zebrafish
(Danio rerio)
Actinopterygii itcha 35
  • 76 (a)
OneToMany
ITCH (2 of 2) 35
  • 75 (a)
OneToMany
itch 34
  • 68.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta Su(dx) 36 35
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea Y65B4BR.4a 36
  • 61 (a)
Y65B4BR.4b 36
  • 61 (a)
wwp-1 35
  • 53 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RSP5 35
  • 40 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9326 35
  • 66 (a)
OneToMany
Species where no ortholog for ITCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ITCH Gene

ENSEMBL:
Gene Tree for ITCH (if available)
TreeFam:
Gene Tree for ITCH (if available)

Paralogs for ITCH Gene

Paralogs for ITCH Gene

(11) SIMAP similar genes for ITCH Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ITCH: view

Variants for ITCH Gene

Sequence variations from dbSNP and Humsavar for ITCH Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs587776592 Pathogenic 34,413,798(+) GACAA(-/A)TAGGA nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs864309573 Uncertain significance 34,417,117(+) TTTAG(A/T)TGGGG intron-variant, reference, missense
rs1000001160 -- 34,497,092(+) CCCAG(A/G)ATCAA intron-variant
rs1000001340 -- 34,429,765(+) TGTTT(G/T)TATGT intron-variant
rs1000032085 -- 34,438,888(+) TGCAG(A/G)TAACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ITCH Gene

Variant ID Type Subtype PubMed ID
esv2675421 CNV deletion 23128226
esv3645699 CNV loss 21293372
esv3645700 CNV loss 21293372
esv3645701 CNV loss 21293372
nsv1059756 CNV gain 25217958
nsv1146404 CNV insertion 26484159
nsv478718 CNV novel sequence insertion 20440878
nsv964392 CNV duplication 23825009

Variation tolerance for ITCH Gene

Residual Variation Intolerance Score: 5.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ITCH Gene

Human Gene Mutation Database (HGMD)
ITCH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ITCH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ITCH Gene

Disorders for ITCH Gene

MalaCards: The human disease database

(5) MalaCards diseases for ITCH Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autoimmune disease, multisystem, with facial dysmorphism
  • syndromic multisystem autoimmune disease
itch e3 ubiquitin ligase deficiency
  • autoimmune disease, syndromic multisystem
louping ill
troyer syndrome
  • spastic paraplegia 20, autosomal recessive
rapp-hodgkin syndrome
  • orofacial cleft 8
- elite association - COSMIC cancer census association via MalaCards
Search ITCH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ITCH_HUMAN
  • Autoimmune disease, multisystem, with facial dysmorphism (ADMFD) [MIM:613385]: A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. {ECO:0000269 PubMed:20170897}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ITCH

Genetic Association Database (GAD)
ITCH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ITCH
genes like me logo Genes that share disorders with ITCH: view

No data available for Genatlas for ITCH Gene

Publications for ITCH Gene

  1. Human ITCH is a co-regulator of the hematopoietic transcription factor NF-E2. (PMID: 11318614) Chen X. … Shen C.K.J. (Genomics 2001) 2 3 4 22 64
  2. The ubiquitin ligase itch regulates apoptosis by targeting thioredoxin-interacting protein for ubiquitin-dependent degradation. (PMID: 20068034) Zhang P. … Yu L. (J. Biol. Chem. 2010) 3 4 22 64
  3. The E3 ubiquitin ligase atrophin interacting protein 4 binds directly to the chemokine receptor CXCR4 via a novel WW domain-mediated interaction. (PMID: 19116316) Bhandari D. … Marchese A. (Mol. Biol. Cell 2009) 3 4 22 64
  4. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. (PMID: 19580544) Edwards T.L. … Reid E. (Biochem. J. 2009) 3 4 22 64
  5. A novel interaction between atrophin-interacting protein 4 and beta- p21-activated kinase-interactive exchange factor is mediated by an SH3 domain. (PMID: 17652093) Janz J.M. … Min K.C. (J. Biol. Chem. 2007) 3 4 22 64

Products for ITCH Gene

Sources for ITCH Gene

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