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

Summary

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, Nov 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

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Integration of innate immune signalling by caspase-8 cleavage of N4BP1.
Title: Integration of innate immune signalling by caspase-8 cleavage of N4BP1.
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.
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.
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.

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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 EBI GWAS CatalogPubMed
Genome-wide association study of autistic-like traits in a general population study of young adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60801 (e-PCR)
- UniSTS:25601

RH65025 (e-PCR)
- UniSTS:89889

SHGC-61163 (e-PCR)
- UniSTS:31010

RH93964 (e-PCR)
- UniSTS:90170

RH76414 (e-PCR)
- UniSTS:85062

D16S2664 (e-PCR)
- UniSTS:152410

SHGC-61148 (e-PCR)
- UniSTS:67487

SHGC-60717 (e-PCR)
- UniSTS:75948

RH65099 (e-PCR)
- UniSTS:86204

SHGC-58576 (e-PCR)
- UniSTS:94406

RH66684 (e-PCR)
- UniSTS:41463

AU151351 (e-PCR)
- UniSTS:278013

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)

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

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

48538726..48610180 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

XR_007064930.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

54336403..54407853 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

RNA

XR_008484752.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.