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ITCH itchy E3 ubiquitin protein ligase [ Homo sapiens (human) ]

Gene ID: 83737, updated on 10-Oct-2019

Summary

Official Symbol
ITCHprovided by HGNC
Official Full Name
itchy E3 ubiquitin protein ligaseprovided by HGNC
Primary source
HGNC:HGNC:13890
See related
Ensembl:ENSG00000078747 MIM:606409
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AIF4; AIP4; ADMFD; NAPP1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 12.7), esophagus (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See ITCH in Genome Data Viewer
Location:
20q11.22
Exon count:
31
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (34363273..34511773)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32951041..33099198)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene agouti signaling protein Neighboring gene exportin for tRNA pseudogene 1 Neighboring gene density regulated re-initiation and release factor pseudogene Neighboring gene adenosylhomocysteinase Neighboring gene uncharacterized LOC107985381 Neighboring gene cell division cycle 42 pseudogene 1 Neighboring gene microRNA 644a Neighboring gene ferredoxin 1 pseudogene 1 Neighboring gene dynein light chain roadblock-type 1 Neighboring gene microtubule associated protein 1 light chain 3 alpha

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef co-localizes with CXCR4, AIP4, NEDD4, CD63/LAMP-1-positive vesicles, and HRS/VPS27-positive ESCRT-0 structures in HeLa cells PubMed
nef The Lys residues (K327/331/333) in the C-terminal tail of CXCR4 and the catalytic Cys830 in the HECT domain of AIP4 are critically required for HIV-1 Nef-mediated downregulation of CXCR4 PubMed
nef HIV-1 Nef dramatically enhances the binding of AIP4 with CXCR4 and alanine substitutions at positions Q297 and N329 of AIP4 eliminate this binding PubMed
nef HIV-1 Nef-mediated CXCR4 downregulation is dependent on ubiquitinylation, which is mediated by the E3 ubiquitin ligase AIP4 PubMed
nef HIV-1 Nef co-localizes with E3 ubiquitin ligases AIP4 and NEDD4. HIV-1 Nef induced degradation of GNAI2 involves AIP4 and NEDD4 through recruitment of AIP4 and NEDD4 by Nef PubMed
Vif vif HIV-1 Vif, through amino acids 20-128, binds to the WW domains of hNedd4 and AIP4, two HECT E3 ubiquitin ligases PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystem (from REACTOME)
    Activated NOTCH1 Transmits Signal to the Nucleus, organism-specific biosystemMature NOTCH1 heterodimer on the cell surface is activated by one of its ligands: DLL1 (Cordle et al. 2008, Jarriault et al. 1998), DLL4 (Benedito et al. 2009), JAG1 (Li et al. 1998, Benedito et al. ...
  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • CXCR4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
    CXCR4-mediated signaling events, organism-specific biosystem
    CXCR4-mediated signaling events
  • Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem (from Pathway Interaction Database)
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes, organism-specific biosystem
    Calcineurin-regulated NFAT-dependent transcription in lymphocytes
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Degradation of GLI1 by the proteasome, organism-specific biosystem (from REACTOME)
    Degradation of GLI1 by the proteasome, organism-specific biosystemGLI1 is the most divergent of the 3 mammalian GLI transcription factors and lacks a transcriptional repressor domain. Although GLI1 is dispensible for development, the gene is an early transcription...
  • Downregulation of ERBB4 signaling, organism-specific biosystem (from REACTOME)
    Downregulation of ERBB4 signaling, organism-specific biosystemWW-domain binding motifs in the C-tail of ERBB4 play an important role in the downregulation of ERBB4 receptor signaling, enabling the interaction of intact ERBB4, ERBB4 m80 and ERBB4 s80 with NEDD4 ...
  • EGF/EGFR Signaling Pathway, organism-specific biosystem (from WikiPathways)
    EGF/EGFR Signaling Pathway, organism-specific biosystemEpidermal growth factor receptor (EGFR) also known as ErbB1/HER1 is a member of the ErbB family of receptor tyrosine kinases which also includes ErbB2 (Neu, HER2), ErbB3 (HER3) and ErbB4 (HER4). Sev...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • ErbB4 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ErbB4 signaling events, organism-specific biosystem
    ErbB4 signaling events
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • NOD1/2 Signaling Pathway, organism-specific biosystem (from REACTOME)
    NOD1/2 Signaling Pathway, organism-specific biosystemNOD1 is ubiquitously expressed, while NOD2 expression is restricted to monocytes, macrophages, dendritic cells, and intestinal Paneth cells (Inohara et al. 2005). NOD1 and NOD2 activation induces tra...
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), organism-specific biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Non-alcoholic fatty liver disease (NAFLD), conserved biosystem (from KEGG)
    Non-alcoholic fatty liver disease (NAFLD), conserved biosystemNon-alcoholic fatty liver disease (NAFLD) represents a spectrum ranging from simple steatosis to more severe steatohepatitis with hepatic inflammation and fibrosis, known as nonalcoholic steatohepati...
  • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Notch Signaling Pathway, organism-specific biosystemThe Notch pathway is an evolutionally conserved signaling pathway which plays an important role in diverse developmental and physiological processes. These include cell-fate determination, tissue pat...
  • Notch signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Notch signaling pathway, organism-specific biosystem
    Notch signaling pathway
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by ERBB4, organism-specific biosystem (from REACTOME)
    Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
  • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
  • Signaling by NOTCH1, organism-specific biosystem (from REACTOME)
    Signaling by NOTCH1, organism-specific biosystemNOTCH1 functions as both a transmembrane receptor presented on the cell surface and as a transcriptional regulator in the nucleus.NOTCH1 receptor presented on the plasma membrane is activated by a me...
  • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
    TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
  • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
CXCR chemokine receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
arrestin family protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribonucleoprotein complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity TAS
Traceable Author Statement
more info
 
ubiquitin-like protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-protein transferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-protein transferase activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway TAS
Traceable Author Statement
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of NF-kappaB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of defense response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of type I interferon production TAS
Traceable Author Statement
more info
 
nucleotide-binding oligomerization domain containing signaling pathway TAS
Traceable Author Statement
more info
 
positive regulation of protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of receptor catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K29-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K29-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K48-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein K63-linked ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K63-linked ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of protein deubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
viral entry into host cell TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with early endosome IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase Itchy homolog
Names
HECT-type E3 ubiquitin transferase Itchy homolog
NFE2-associated polypeptide 1
atrophin-1 interacting protein 4
itchy E3 ubiquitin protein ligase homolog
NP_001244066.1
NP_001244067.1
NP_001311126.1
NP_001311127.1
NP_113671.3
XP_005260627.1
XP_011527381.1
XP_016883578.1
XP_016883579.1
XP_016883580.1
XP_016883581.1
XP_024307773.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023206.1 RefSeqGene

    Range
    4980..153137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_354

mRNA and Protein(s)

  1. NM_001257137.3NP_001244066.1  E3 ubiquitin-protein ligase Itchy homolog isoform 1

    See identical proteins and their annotated locations for NP_001244066.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Both variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    AA730741, AL109923, AL356299, AL705688, BC011571, BG928040
    Consensus CDS
    CCDS58768.1
    UniProtKB/Swiss-Prot
    Q96J02
    Related
    ENSP00000262650.5, ENST00000262650.10
    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:359903
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:328357
    WW; WW domain
  2. NM_001257138.3NP_001244067.1  E3 ubiquitin-protein ligase Itchy homolog isoform 3

    See identical proteins and their annotated locations for NP_001244067.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two internal exons and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AA730741, AF038564, AK304090, AL109923, AL356299, AL705688, BG928040
    Consensus CDS
    CCDS58769.1
    UniProtKB/Swiss-Prot
    Q96J02
    Related
    ENSP00000445608.1, ENST00000535650.7
    Conserved Domains (3) summary
    COG5021
    Location:208752
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:177206
    WW; WW domain
    cl14603
    Location:130
    C2; C2 domain
  3. NM_001324197.2NP_001311126.1  E3 ubiquitin-protein ligase Itchy homolog isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL109923, AL356299, BG928040
    Consensus CDS
    CCDS58768.1
    UniProtKB/Swiss-Prot
    Q96J02
    Related
    ENSP00000499786.1, ENST00000665346.1
    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:359903
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:328357
    WW; WW domain
  4. NM_001324198.2NP_001311127.1  E3 ubiquitin-protein ligase Itchy homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL109923, AL356299, BG928040
    Consensus CDS
    CCDS13234.1
    UniProtKB/Swiss-Prot
    Q96J02
    Related
    ENSP00000499685.1, ENST00000660337.1
    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:318862
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:287316
    WW; WW domain
  5. NM_031483.7NP_113671.3  E3 ubiquitin-protein ligase Itchy homolog isoform 2

    See identical proteins and their annotated locations for NP_113671.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Both variants 2 and 5 encode the same isoform (2).
    Source sequence(s)
    AA730741, AK315212, AL109923, AL356299, AL705688, BG928040
    Consensus CDS
    CCDS13234.1
    UniProtKB/Swiss-Prot
    Q96J02
    Related
    ENSP00000363998.4, ENST00000374864.9
    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:318862
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:287316
    WW; WW domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    34363273..34511773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028090.1XP_016883579.1  E3 ubiquitin-protein ligase Itchy homolog isoform X2

    Related
    ENSP00000499526.1, ENST00000670516.1
  2. XM_005260570.1XP_005260627.1  E3 ubiquitin-protein ligase Itchy homolog isoform X4

    Conserved Domains (2) summary
    COG5021
    Location:148692
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:117146
    WW; WW domain
  3. XM_017028091.1XP_016883580.1  E3 ubiquitin-protein ligase Itchy homolog isoform X3

    UniProtKB/Swiss-Prot
    Q96J02
    Conserved Domains (3) summary
    COG5021
    Location:208752
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:177206
    WW; WW domain
    cl14603
    Location:130
    C2; C2 domain
  4. XM_017028092.2XP_016883581.1  E3 ubiquitin-protein ligase Itchy homolog isoform X6

  5. XM_024452005.1XP_024307773.1  E3 ubiquitin-protein ligase Itchy homolog isoform X1

    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:359903
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:328357
    WW; WW domain
  6. XM_017028089.1XP_016883578.1  E3 ubiquitin-protein ligase Itchy homolog isoform X1

    UniProtKB/Swiss-Prot
    Q96J02
    Conserved Domains (3) summary
    cd04021
    Location:17140
    C2_E3_ubiquitin_ligase; C2 domain present in E3 ubiquitin ligase
    COG5021
    Location:359903
    HUL4; Ubiquitin-protein ligase [Posttranslational modification, protein turnover, chaperones]
    pfam00397
    Location:328357
    WW; WW domain
  7. XM_011529079.1XP_011527381.1  E3 ubiquitin-protein ligase Itchy homolog isoform X5

    Conserved Domains (4) summary
    smart00456
    Location:268299
    WW; Domain with 2 conserved Trp (W) residues
    smart00119
    Location:361689
    HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
    cd00078
    Location:337690
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    pfam00397
    Location:229258
    WW; WW domain

RNA

  1. XR_001754418.1 RNA Sequence

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