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FLASH GENE
Symbol N4BP1 contributors: mct/npt - updated : 31-01-2023
HGNC name NEDD4 binding protein 1
HGNC id 29850
Location 16q12.1      Physical location : 48.572.638 - 48.644.120
Synonym name cDNA sequence,expressed in brain,>100kDa,related to KIAA0323
Synonym symbol(s) KIAA0615, FLJ31821, MGC176730
DNA
TYPE functioning gene
STRUCTURE 71.48 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
7 - 7121 - 896 - 2020 32971525
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach   highly
Nervousbrain    
Reproductivefemale systembreastmammary gland highly
Skin/Tegumentskin   highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminal CoCUN domain mediating the interaction with ubiquitin , C-terminal 50 AAs of N4BP1 (for Cousin of CUBAN), poly-ubiquitinated in cells
  • HOMOLOGY
    intraspecies homolog to KIAA0323
    Homologene
    FAMILY
  • N4BP1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    basic FUNCTION
  • functions as a negative regulator of ITCH (inhibits its ubiquitylation activity)
  • may have a role in regulating tumor progression and the response of cancer cells to chemotherapy
  • polyubiquitin binding protein involved in NF-kappaB signaling (Fenner 2009)
  • N4BP1 cleavage by CASP8 is a point of signal integration during inflammation
  • role of N4BP1 and KHNYN, in immune regulation and antiviral immunity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds NEDD4 (substrate of the homologous to E6AP C terminus (HECT) domain-containing E3 ubiquitin-protein ligase (E3), NEDD4)
  • functional interaction between N4BP1 and ITCH, a Nedd4 structurally related E3, which contains four WW domains, conferring substrate-binding activity
  • N4BP1 is a suppressor of cytokine production that is cleaved and inactivated by caspase-8
  • N4BP1 negatively regulates NFKB1 by binding and inhibiting IKBKG oligomerization
  • controls the proper function of keratinocytes and neutrophils by negatively regulating JUNB, FOSB, and CXCL1, respectively, and that is critical for psoriasis prevention
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       gain of function
    in psoriatic skin
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • N4bp1-/- mice also have diminished numbers of T cells in the peripheral blood