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Aliases for N4BP1 Gene

Aliases for N4BP1 Gene

  • NEDD4 Binding Protein 1 2 3 5
  • KIAA0615 4

External Ids for N4BP1 Gene

Previous GeneCards Identifiers for N4BP1 Gene

  • GC16M038991
  • GC16M048624
  • GC16M048311
  • GC16M048354
  • GC16M047131
  • GC16M048572
  • GC16M034461

Summaries for N4BP1 Gene

GeneCards Summary for N4BP1 Gene

N4BP1 (NEDD4 Binding Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is KHNYN.

UniProtKB/Swiss-Prot for N4BP1 Gene

  • Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCHs substrates and impairing ubiquitination of substrates (By similarity).

Additional gene information for N4BP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for N4BP1 Gene

Genomics for N4BP1 Gene

GeneHancer (GH) Regulatory Elements for N4BP1 Gene

Promoters and enhancers for N4BP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I048605 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 574.5 +10.2 10231 9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 N4BP1 ENSG00000260052 ENSG00000261267 ENSG00000261538 LONP2 SIAH1 GC16P048601
GH16I048621 Enhancer 1 FANTOM5 ENCODE dbSUPER 576.7 -1.4 -1430 0.5 MEIS2 TCF12 CTBP1 CBFA2T3 SPI1 N4BP1 ENSG00000260086 LOC105371240 ENSG00000259912 SIAH1
GH16I048619 Enhancer 0.4 Ensembl 550.8 +0.2 247 0.2 ZNF24 SPI1 N4BP1 ENSG00000259912 GC16P048601
GH16I048622 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 30.6 -3.5 -3461 2.1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF48 YY1 SLC30A9 ZNF213 LOC105371240 ENSG00000260086 N4BP1 SIAH1 ENSG00000260052
GH16I048555 Enhancer 1.3 FANTOM5 Ensembl ENCODE 32.9 +62.2 62247 4.2 MEIS2 PKNOX1 FOXA2 SAP130 MAX EBF1 FEZF1 BATF IRF4 FOSL1 ENSG00000261267 N4BP1 ABCC11 LONP2 ENSG00000260052 SIAH1 PIR50161
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around N4BP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the N4BP1 gene promoter:

Genomic Locations for N4BP1 Gene

Genomic Locations for N4BP1 Gene
chr16:48,538,726-48,620,148
(GRCh38/hg38)
Size:
81,423 bases
Orientation:
Minus strand
chr16:48,572,637-48,654,059
(GRCh37/hg19)

Genomic View for N4BP1 Gene

Genes around N4BP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
N4BP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for N4BP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for N4BP1 Gene

Proteins for N4BP1 Gene

  • Protein details for N4BP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75113-N4BP1_HUMAN
    Recommended name:
    NEDD4-binding protein 1
    Protein Accession:
    O75113
    Secondary Accessions:
    • A7MD49
    • Q2YDX1

    Protein attributes for N4BP1 Gene

    Size:
    896 amino acids
    Molecular mass:
    100379 Da
    Quaternary structure:
    • Interacts with NEDD4. Interacts with ITCH (via WW domain 2) (By similarity).
    SequenceCaution:
    • Sequence=BAA31590.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for N4BP1 Gene

Post-translational modifications for N4BP1 Gene

  • Monoubiquitinated by NEDD4. Polyubiquitinated, leading to its degradation by the proteasome. Sumoylated with SUMO1, abrogating polyubiquitination and subsequent degradation. Desumoylated by SENP1, leading to accumulation in PML nuclear bodies (By similarity).
  • Ubiquitination at isoforms=412, isoforms=441, isoforms=471, isoforms=601, isoforms=714, and isoforms=773

Other Protein References for N4BP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for N4BP1 Gene

Domains & Families for N4BP1 Gene

Gene Families for N4BP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for N4BP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for N4BP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75113

UniProtKB/Swiss-Prot:

N4BP1_HUMAN :
  • Belongs to the N4BP1 family.
Family:
  • Belongs to the N4BP1 family.
genes like me logo Genes that share domains with N4BP1: view

Function for N4BP1 Gene

Molecular function for N4BP1 Gene

UniProtKB/Swiss-Prot Function:
Inhibitor of the E3 ubiquitin-protein ligase ITCH. Acts by interacting with the second WW domain of ITCH, leading to compete with ITCHs substrates and impairing ubiquitination of substrates (By similarity).

Phenotypes From GWAS Catalog for N4BP1 Gene

Gene Ontology (GO) - Molecular Function for N4BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17592138
genes like me logo Genes that share ontologies with N4BP1: view
genes like me logo Genes that share phenotypes with N4BP1: view

Animal Models for N4BP1 Gene

MGI Knock Outs for N4BP1:

miRNA for N4BP1 Gene

miRTarBase miRNAs that target N4BP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for N4BP1 Gene

Localization for N4BP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for N4BP1 Gene

Nucleus, nucleolus. Nucleus, PML body. Note=Primarily localizes to the nucleolus. Also localizes to the PML nuclear bodies, when desumoylated (By similarity). {ECO:0000250}.

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 N4BP1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for N4BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus ISS --
GO:0016605 PML body ISS --
genes like me logo Genes that share ontologies with N4BP1: view

Pathways & Interactions for N4BP1 Gene

SuperPathways for N4BP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for N4BP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031397 negative regulation of protein ubiquitination ISS,IEA --
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS,IEA --
GO:0034644 cellular response to UV IMP,IEA 17592138
genes like me logo Genes that share ontologies with N4BP1: view

No data available for Pathways by source and SIGNOR curated interactions for N4BP1 Gene

Drugs & Compounds for N4BP1 Gene

No Compound Related Data Available

Transcripts for N4BP1 Gene

Unigene Clusters for N4BP1 Gene

NEDD4 binding protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for N4BP1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: -
SP2: -
SP3:

Relevant External Links for N4BP1 Gene

GeneLoc Exon Structure for
N4BP1
ECgene alternative splicing isoforms for
N4BP1

Expression for N4BP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for N4BP1 Gene

mRNA differential expression in normal tissues according to GTEx for N4BP1 Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for N4BP1 Gene

This gene is overexpressed in Cervix (32.9) and Adrenal (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for N4BP1 Gene



Protein tissue co-expression partners for N4BP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of N4BP1 Gene:

N4BP1

SOURCE GeneReport for Unigene cluster for N4BP1 Gene:

Hs.511839

mRNA Expression by UniProt/SwissProt for N4BP1 Gene:

O75113-N4BP1_HUMAN
Tissue specificity: Detected in heart, lung, brain, liver, skeletal muscle, pancreas, kidney, spleen, testis and ovary.

Evidence on tissue expression from TISSUES for N4BP1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Stomach(2.4)
genes like me logo Genes that share expression patterns with N4BP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for N4BP1 Gene

Orthologs for N4BP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for N4BP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia N4BP1 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia N4BP1 34 33
  • 90.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia N4BP1 33 34
  • 90.33 (n)
mouse
(Mus musculus)
Mammalia N4bp1 33 16 34
  • 83.17 (n)
rat
(Rattus norvegicus)
Mammalia N4bp1 33
  • 82.92 (n)
oppossum
(Monodelphis domestica)
Mammalia N4BP1 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia N4BP1 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves N4BP1 34 33
  • 64.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia N4BP1 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia n4bp1 33
  • 61.81 (n)
Str.18844 33
African clawed frog
(Xenopus laevis)
Amphibia n4bp1-pending-prov 33
zebrafish
(Danio rerio)
Actinopterygii n4bp1 33 34
  • 52.91 (n)
wufi03b05 33
fruit fly
(Drosophila melanogaster)
Insecta CG10889 34
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C30F12.1 34
  • 18 (a)
OneToMany
Species where no ortholog for N4BP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 N4BP1 Gene

ENSEMBL:
Gene Tree for N4BP1 (if available)
TreeFam:
Gene Tree for N4BP1 (if available)

Paralogs for N4BP1 Gene

Paralogs for N4BP1 Gene

genes like me logo Genes that share paralogs with N4BP1: view

Variants for N4BP1 Gene

Sequence variations from dbSNP and Humsavar for N4BP1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000002850 -- 48,549,056(-) G/A intron_variant
rs1000014954 -- 48,598,724(-) G/T intron_variant
rs1000045892 -- 48,575,673(-) C/T intron_variant
rs1000074443 -- 48,605,986(-) G/A intron_variant
rs1000126620 -- 48,606,173(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for N4BP1 Gene

Variant ID Type Subtype PubMed ID
dgv2976n100 CNV gain 25217958
esv33450 CNV gain 17666407
esv3638580 CNV loss 21293372
nsv1071288 CNV deletion 25765185
nsv1134543 CNV deletion 24896259
nsv473035 CNV novel sequence insertion 20440878
nsv974813 CNV duplication 23825009
nsv974814 CNV duplication 23825009

Variation tolerance for N4BP1 Gene

Residual Variation Intolerance Score: 7.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for N4BP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
N4BP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for N4BP1 Gene

Disorders for N4BP1 Gene

Additional Disease Information for N4BP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for N4BP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for N4BP1 Gene

Publications for N4BP1 Gene

  1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J … Platt A (The pharmacogenomics journal 2013) 3 44 58
  3. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PMID: 19074885) Enjuanes A … Campo E (Cancer research 2008) 3 44 58
  4. Identification of developmentally expressed proteins that functionally interact with Nedd4 ubiquitin ligase. (PMID: 11717310) Murillas R … Kuehn MR (The Journal of biological chemistry 2002) 2 3 58
  5. An Interaction Landscape of Ubiquitin Signaling. (PMID: 28190767) Zhang X … Vermeulen M (Molecular cell 2017) 3 58

Products for N4BP1 Gene

Sources for N4BP1 Gene

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