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

    Gene ID: 80762, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDFIP1 in Genome Data Viewer
    Location:
    5q31.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (142108779..142154440)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (142639297..142684953)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (141488344..141534005)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:141427829-141428696 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141428697-141429562 Neighboring gene mitochondrial ribosomal protein L11 pseudogene 2 Neighboring gene uncharacterized LOC105378204 Neighboring gene MPRA-validated peak5504 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141488095-141488596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23316 Neighboring gene uncharacterized LOC107986455 Neighboring gene uncharacterized LOC124901096 Neighboring gene Sharpr-MPRA regulatory region 837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141560390-141560908 Neighboring gene MPRA-validated peak5506 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141563869-141564765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141564766-141565661 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141566635-141567164 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:141580673-141581872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141585270-141585770 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:141595973-141596142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23317 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141612188-141612688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141616039-141616767 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141625205-141625997 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:141625998-141626789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141659038-141659604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:141659605-141660171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:141690483-141690984 Neighboring gene SPRY4 intronic transcript 1 Neighboring gene sprouty RTK signaling antagonist 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10924

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables WW domain binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 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

    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)

    NEW Try the new Transcript table

    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_030571.4NP_085048.1  NEDD4 family-interacting protein 1

      See identical proteins and their annotated locations for NP_085048.1

      Status: REVIEWED

      Source sequence(s)
      AA496123, AB097010, AL832993, DA236494
      Consensus CDS
      CCDS4273.1
      UniProtKB/Swiss-Prot
      B2RDB8, D3DQF0, Q658T8, Q8N2E3, Q8N2F9, Q9BT67
      Related
      ENSP00000253814.3, ENST00000253814.6
      Conserved Domains (1) summary
      cd22305
      Location:16221
      NDFIP1; NEDD4 family-interacting protein 1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      142108779..142154440
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      142639297..142684953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)