Aliases for N4BP3 Gene

Aliases for N4BP3 Gene

  • NEDD4 Binding Protein 3 2 3 5
  • NEDD4-Binding Protein 3 3 4
  • LZTS4 2 3
  • KIAA0341 4
  • N4BP3 5

External Ids for N4BP3 Gene

Previous GeneCards Identifiers for N4BP3 Gene

  • GC05P177695
  • GC05P178427
  • GC05P177608
  • GC05P177654
  • GC05P177473
  • GC05P177540
  • GC05P172272

Summaries for N4BP3 Gene

GeneCards Summary for N4BP3 Gene

N4BP3 (NEDD4 Binding Protein 3) is a Protein Coding gene. Diseases associated with N4BP3 include Hypomelanosis Of Ito.

UniProtKB/Swiss-Prot Summary for N4BP3 Gene

  • Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage.

Additional gene information for N4BP3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for N4BP3 Gene

Genomics for N4BP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for N4BP3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around N4BP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for N4BP3

Top Transcription factor binding sites by QIAGEN in the N4BP3 gene promoter:
  • COUP
  • COUP-TF
  • FAC1
  • HEN1
  • HSF2
  • Max1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • ZIC2

Genomic Locations for N4BP3 Gene

Genomic Locations for N4BP3 Gene
chr5:178,113,506-178,127,034
(GRCh38/hg38)
Size:
13,529 bases
Orientation:
Plus strand
chr5:177,540,444-177,553,107
(GRCh37/hg19)
Size:
12,664 bases
Orientation:
Plus strand

Genomic View for N4BP3 Gene

Genes around N4BP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
N4BP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for N4BP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for N4BP3 Gene

Proteins for N4BP3 Gene

  • Protein details for N4BP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15049-N4BP3_HUMAN
    Recommended name:
    NEDD4-binding protein 3
    Protein Accession:
    O15049
    Secondary Accessions:
    • B4DIL3
    • D3DWP3
    • Q6ZSQ6
    • Q7Z6I3

    Protein attributes for N4BP3 Gene

    Size:
    544 amino acids
    Molecular mass:
    60470 Da
    Quaternary structure:
    • Binds NEDD4 (PubMed:11717310). Interacts with 14-3-3 proteins (PubMed:15324660).
    SequenceCaution:
    • Sequence=BAA20799.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86891.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86891.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAG58525.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

neXtProt entry for N4BP3 Gene

Post-translational modifications for N4BP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for N4BP3 Gene

No data available for DME Specific Peptides for N4BP3 Gene

Domains & Families for N4BP3 Gene

Gene Families for N4BP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for N4BP3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for N4BP3 Gene

GenScript: Design optimal peptide antigens:
  • NEDD4-binding protein 3 (N4BP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15049

UniProtKB/Swiss-Prot:

N4BP3_HUMAN :
  • Belongs to the N4BP3 family.
Family:
  • Belongs to the N4BP3 family.
genes like me logo Genes that share domains with N4BP3: view

Function for N4BP3 Gene

Molecular function for N4BP3 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage.

Phenotypes From GWAS Catalog for N4BP3 Gene

Gene Ontology (GO) - Molecular Function for N4BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26496610
genes like me logo Genes that share ontologies with N4BP3: view
genes like me logo Genes that share phenotypes with N4BP3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for N4BP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for N4BP3 Gene

Localization for N4BP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for N4BP3 Gene

Cytoplasmic vesicle. Cell projection, axon. Cell projection, dendrite. Note=In developing neurons, accumulates in early growth cones and at branching points of axons and dendrites. {ECO:0000250 UniProtKB:Q3LUD3}.

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 N4BP3 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for N4BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030424 axon IEA --
GO:0030425 dendrite IEA --
GO:0031410 cytoplasmic vesicle IBA 21873635
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with N4BP3: view

Pathways & Interactions for N4BP3 Gene

PathCards logo

SuperPathways for N4BP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for N4BP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with N4BP3: view

No data available for Pathways by source and SIGNOR curated interactions for N4BP3 Gene

Drugs & Compounds for N4BP3 Gene

No Compound Related Data Available

Transcripts for N4BP3 Gene

mRNA/cDNA for N4BP3 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for N4BP3

Alternative Splicing Database (ASD) splice patterns (SP) for N4BP3 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5
SP1:
SP2:

Relevant External Links for N4BP3 Gene

GeneLoc Exon Structure for
N4BP3

Expression for N4BP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for N4BP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for N4BP3 Gene

This gene is overexpressed in Esophagus - Mucosa (x7.2).

Protein differential expression in normal tissues from HIPED for N4BP3 Gene

This gene is overexpressed in Placenta (36.2) and Heart (19.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for N4BP3 Gene



Protein tissue co-expression partners for N4BP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for N4BP3

SOURCE GeneReport for Unigene cluster for N4BP3 Gene:

Hs.101761

Evidence on tissue expression from TISSUES for N4BP3 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with N4BP3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for N4BP3 Gene

Orthologs for N4BP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for N4BP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia N4BP3 30 31
  • 99.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia N4BP3 30 31
  • 89.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia N4BP3 30 31
  • 87.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia N4bp3 30
  • 87.15 (n)
Mouse
(Mus musculus)
Mammalia N4bp3 30 17 31
  • 86.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia N4BP3 31
  • 56 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia N4BP3 31
  • 40 (a)
OneToOne
Chicken
(Gallus gallus)
Aves N4BP3 30 31
  • 63.27 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
OneToMany
-- 31
  • 44 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia n4bp3 30
  • 53.47 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101884870 30
  • 52.89 (n)
N4BP3 31
  • 34 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3837 31
  • 28 (a)
OneToMany
Species where no ortholog for N4BP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for N4BP3 Gene

ENSEMBL:
Gene Tree for N4BP3 (if available)
TreeFam:
Gene Tree for N4BP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for N4BP3: view image

Paralogs for N4BP3 Gene

No data available for Paralogs for N4BP3 Gene

Variants for N4BP3 Gene

Additional dbSNP identifiers (rs#s) for N4BP3 Gene

Structural Variations from Database of Genomic Variants (DGV) for N4BP3 Gene

Variant ID Type Subtype PubMed ID
dgv5844n100 CNV gain 25217958
nsv1019404 CNV gain 25217958
nsv1120062 OTHER inversion 24896259
nsv1144125 CNV deletion 24896259
nsv462567 CNV loss 19166990
nsv471058 CNV loss 18288195
nsv600391 CNV loss 21841781
nsv600392 CNV loss 21841781
nsv600394 CNV loss 21841781
nsv950730 CNV deletion 24416366
nsv950731 CNV deletion 24416366

Variation tolerance for N4BP3 Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.60; 65.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for N4BP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
N4BP3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for N4BP3 Gene

Disorders for N4BP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for N4BP3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hypomelanosis of ito
  • hmi
- elite association - COSMIC cancer census association via MalaCards
Search N4BP3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with N4BP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for N4BP3 Gene

Publications for N4BP3 Gene

  1. 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 4
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. (PMID: 15324660) Jin J … Pawson T (Current biology : CB 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for N4BP3 Gene

Sources for N4BP3 Gene