NDFIP1 Nedd4 family interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NDFIP1provided by HGNC
Official Full Name: Nedd4 family interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:17592
See related: Ensembl:ENSG00000131507 MIM:612050; AllianceGenome:HGNC:17592
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: N4WBP5
Summary: The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 106.7), thyroid (RPKM 68.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (142108779..142154440)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (142639297..142684953)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (141488344..141534005)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Ndfip1 protected dopaminergic neurons via regulating mitochondrial function and ferroptosis in Parkinson's disease.
Title: Ndfip1 protected dopaminergic neurons via regulating mitochondrial function and ferroptosis in Parkinson's disease.
NDFIP1 limits cellular TAZ accumulation via exosomal sorting to inhibit NSCLC proliferation.
Title: NDFIP1 limits cellular TAZ accumulation via exosomal sorting to inhibit NSCLC proliferation.
Research progress on the role of Ndfip1 (Nedd4 family interacting protein 1) in immune cells.
Title: Research progress on the role of Ndfip1 (Nedd4 family interacting protein 1) in immune cells.
UBA6 and NDFIP1 regulate the degradation of ferroportin.
Title: UBA6 and NDFIP1 regulate the degradation of ferroportin.
Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients.
Title: Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients.
We found that in addition to influencing catalytic activities, the WW domain linker regions in NEDD4-1 and WWP2 can impact product distribution, including the degree of polyubiquitination and Lys-48 versus Lys-63 linkages. We show that allosteric activation by NDFIP1 or engineered ubiquitin variants is largely mediated by relief of WW domain linker autoinhibition.
Title: Comparative analysis of the catalytic regulation of NEDD4-1 and WWP2 ubiquitin ligases.
we identified Nedd4-family interacting protein 1 as a direct target of miR-155, and the expression of Nedd4-family interacting protein 1 was inhibited by miR-155. Furthermore, ectopic expression of Nedd4-family interacting protein 1 restored the effects of miR-155 on cell proliferation and invasion of uveal melanoma cells
Title: MiR-155 Promotes Uveal Melanoma Cell Proliferation and Invasion by Regulating NDFIP1 Expression.
the expression of Ndfipl reduced expression of a-synuclein. In conclusion, Ndfipl plays a significant role in protecting SH-SY5Y cells in in vitro Parkinson's disease models.
Title: Protective effects and mechanisms of Ndfipl on SH-SY5Y cell apoptosis in an in vitro Parkinson's disease model.
Silencing of Ndfip1 inhibited cytokine-induced apoptosis of pancreatic islets and promoted glucose-stimulated insulin secretion. These effects were associated with an increase in the cellular content of JunB, a potent inhibitor of ER stress and apoptosis.
Title: Nedd4 family interacting protein 1 (Ndfip1) promotes death of pancreatic beta cells.
Data show that membrane protein Ndfip1 recruits E3 ubiquitin (Ub) ligase Nedd4-2 to the Golgi to target ether-a-go-go-related gene (hERG) channel for degradation while membrane protein Ndfip2 also mediates Nedd4-2 interaction with hERG in the Golgi.
Title: Regulation of the human ether-a-go-go-related gene (hERG) potassium channel by Nedd4 family interacting proteins (Ndfips).

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study to identify genetic determinants of severe asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of Nedd4 family interacting protein 1 (NDFIP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S1659E (e-PCR)
- UniSTS:151048

WI-13415 (e-PCR)
- UniSTS:23068

RH12496 (e-PCR)
- UniSTS:49955

G32844 (e-PCR)
- UniSTS:117423

A009U22 (e-PCR)
- UniSTS:11185

D5S1650E (e-PCR)
- UniSTS:57781

RH103656 (e-PCR)
- UniSTS:97981

NIB1384 (e-PCR)
- UniSTS:12261

RH94132 (e-PCR)
- UniSTS:90854

RH47565 (e-PCR)
- UniSTS:33265

5q31-33_33 (e-PCR)
- UniSTS:256504

G20540 (e-PCR)
- UniSTS:36092

A005V35 (e-PCR)
- UniSTS:36093

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables WW domain binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in CD4-positive, alpha-beta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metal ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of inflammatory response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of interleukin-4 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of isotype switching to IgE isotypes	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of type 2 immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	HMP more info	PubMed
involved_in positive regulation of protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of isotype switching to IgG isotypes	IEA Inferred from Electronic Annotation more info
involved_in regulation of lymphocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of myeloid leukocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in vacuolar transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NEDD4 family-interacting protein 1

Names: Nedd4 WW domain-binding protein 5; breast cancer-associated protein SGA-1M; putative MAPK-activating protein PM13; putative NF-kappa-B-activating protein 164; putative NFKB and MAPK-activating protein

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.