• Gene id: 80762

Gene Summary

• Gene Symbol: NDFIP1   Gene   UCSC   Ensembl
• Aliases: N4WBP5
• Gene name: Nedd4 family interacting protein 1
• Alternate names: NEDD4 family-interacting protein 1, 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,
• Gene location: 5q31.3 (142108778: 142154439)     Exons: 8     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 612050

Protein Summary

• Protein general information: Q9BT67  
  • Name: NEDD4 family interacting protein 1 (Breast cancer associated protein SGA 1M) (NEDD4 WW domain binding protein 5) (Putative MAPK activating protein PM13) (Putative NF kappa B activating protein 164) (Putative NFKB and MAPK activating protein)
  • Length: 221  
  • Mass: 24899
  • Tissue specificity: Widely expressed. Higher levels are detected in cerebellum, pituitary, thalamus, kidney, liver, testis, salivary glands and placenta. Also expressed in fetal brain, kidney and lung. {ECO
• Sequence:

  MALALAALAAVEPACGSRYQQLQNEEESGEPEQAAGDAPPPYSSISAESAAYFDYKDESGFPKPPSYNVATTLPS
  YDEAERTKAEATIPLVPGRDEDFVGRDDFDDADQLRIGNDGIFMLTFFMAFLFNWIGFFLSFCLTTSAAGRYGAI
  SGFGLSLIKWILIVRFSTYFPGYFDGQYWLWWVFLVLGFLLFLRGFINYAKVRKMPETFSNLPRTRVLFIY

• Structural information:
  • Interpro: IPR019325  
  • DIP: 48958
  • STRING: ENSP00000253814
• Other Databases: GeneCards:  NDFIP1  Malacards:  NDFIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0030001	metal ion transport	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0050699	WW domain binding	IBA	molecular function
GO:0031398	positive regulation of protein ubiquitination	IBA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030001	metal ion transport	IEA	biological process
GO:0007034	vacuolar transport	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045619	regulation of lymphocyte differentiation	IEA	biological process
GO:0048302	regulation of isotype switching to IgG isotypes	IEA	biological process
GO:0050728	negative regulation of inflammatory response	IEA	biological process
GO:0002761	regulation of myeloid leukocyte differentiation	IEA	biological process
GO:0002829	negative regulation of type 2 immune response	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0032713	negative regulation of interleukin-4 production	IEA	biological process
GO:0042130	negative regulation of T cell proliferation	IEA	biological process
GO:0045732	positive regulation of protein catabolic process	IEA	biological process
GO:0048294	negative regulation of isotype switching to IgE isotypes	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0032410	negative regulation of transporter activity	IMP	biological process
GO:0031398	positive regulation of protein ubiquitination	IMP	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	HMP	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0051224	negative regulation of protein transport	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq