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    N4BP1 NEDD4 binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 9683, updated on 10-Dec-2024

    Summary

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    Official Symbol
    N4BP1provided by HGNC
    Official Full Name
    NEDD4 binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29850
    See related
    Ensembl:ENSG00000102921 MIM:619138; AllianceGenome:HGNC:29850
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables RNA nuclease activity; mRNA binding activity; and ubiquitin binding activity. Involved in cellular response to UV and negative regulation of viral genome replication. Predicted to be located in cytosol and nucleolus. Predicted to be active in PML body. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lung (RPKM 13.3), esophagus (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See N4BP1 in Genome Data Viewer
    Location:
    16q12.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (48538726..48610180, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (54336403..54407853, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (48572637..48644091, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene molybdenum cofactor synthesis 1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:48562077-48562253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10797 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48572485-48572984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48575532-48576032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48576033-48576533 Neighboring gene Sharpr-MPRA regulatory region 9701 Neighboring gene ribosomal protein S2 pseudogene 44 Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7457 Neighboring gene uncharacterized LOC124903687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10801 Neighboring gene Sharpr-MPRA regulatory region 15629 Neighboring gene uncharacterized LOC105371240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48663187-48663688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:48663689-48664188 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. CircN4bp1 Facilitates Sepsis-Induced Acute Respiratory Distress Syndrome through Mediating Macrophage Polarization via the miR-138-5p/EZH2 Axis. Zhao D, et al. Mediators Inflamm, 2021. PMID 35002536, Free PMC Article
    2. N4BP1 regulates keratinocytes development and plays protective role in burn- and adhesive-related skin injury via MMP9. Wu C, et al. Cell Signal, 2023 Oct. PMID 37579928
    3. Nedd4-Binding Protein 1 and TNFAIP3-Interacting Protein 1 Control MHC-1 Display in Neuroblastoma. Spel L, et al. Cancer Res, 2018 Dec 1. PMID 30213788
    4. CoCUN, a Novel Ubiquitin Binding Domain Identified in N4BP1. Nepravishta R, et al. Biomolecules, 2019 Jul 17. PMID 31319543, Free PMC Article
    5. N4BP1 restricts HIV-1 and its inactivation by MALT1 promotes viral reactivation. Yamasoba D, et al. Nat Microbiol, 2019 Sep. PMID 31133753

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N4BP1 regulates keratinocytes development and plays protective role in burn- and adhesive-related skin injury via MMP9.
      Title: N4BP1 regulates keratinocytes development and plays protective role in burn- and adhesive-related skin injury via MMP9.
    2. CircN4bp1 Facilitates Sepsis-Induced Acute Respiratory Distress Syndrome through Mediating Macrophage Polarization via the miR-138-5p/EZH2 Axis.
      Title: CircN4bp1 Facilitates Sepsis-Induced Acute Respiratory Distress Syndrome through Mediating Macrophage Polarization via the miR-138-5p/EZH2 Axis.
    3. Integration of innate immune signalling by caspase-8 cleavage of N4BP1.
      Title: Integration of innate immune signalling by caspase-8 cleavage of N4BP1.
    4. NEDD4-binding protein 1 (N4BP1) is a interferon-inducible inhibitor of HIV-1 in primary T cells and macrophages. N4BP1 harbours a prototypical PilT N terminus-like RNase domain and inhibits HIV-1 replication by interacting with and degrading viral mRNA species. Following activation of CD4(+) T cells, MALT lymphoma associated translocation protein cleaves N4BP1 and facilitates the reactivation of latent HIV-1 proviruses.
      Title: N4BP1 restricts HIV-1 and its inactivation by MALT1 promotes viral reactivation.
    5. The p34 interacts with the WW1 domain of NEDD4-1, an interaction that enhances NEDD4-1 stability.
      Title: p34 is a novel regulator of the oncogenic behavior of NEDD4-1 and PTEN.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.
    EBI GWAS Catalog
    Genome-wide association study of autistic-like traits in a general population study of young adults.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31821, KIAA0615, MGC176730

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA nuclease activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to UV IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of viral genome replication IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in PML body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in PML body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NEDD4-binding protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_153029.4 → NP_694574.3  NEDD4-binding protein 1

      See identical proteins and their annotated locations for NP_694574.3

      Status: VALIDATED

      Source sequence(s)
      AB014515, AK026937, AK056383, AK124782, AL831882, BC051897
      Consensus CDS
      CCDS45479.1
      UniProtKB/Swiss-Prot
      A7MD49, O75113, Q2YDX1
      Related
      ENSP00000262384.3, ENST00000262384.4
      Conserved Domains (1) summary
      pfam11977
      Location:616 → 769
      RNase_Zc3h12a; Zc3h12a-like Ribonuclease NYN domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      48538726..48610180 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523482.2 → XP_011521784.1  NEDD4-binding protein 1 isoform X1

      Conserved Domains (1) summary
      pfam11977
      Location:616 → 746
      RNase_Zc3h12a; Zc3h12a-like Ribonuclease NYN domain

    RNA

    1. XR_007064930.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      54336403..54407853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314484.1 → XP_054170459.1  NEDD4-binding protein 1 isoform X1

    RNA

    1. XR_008484752.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_014664.1: Suppressed sequence

      Description
      NM_014664.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75113.4 GenPept UniProtKB/Swiss-Prot:O75113

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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