Gene Gene information from NCBI Gene database.
Entrez ID 80762
Gene name Nedd4 family interacting protein 1
Gene symbol NDFIP1
Synonyms (NCBI Gene)
N4WBP5
Chromosome 5
Chromosome location 5q31.3
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
miRNA miRNA information provided by mirtarbase database.
239
miRTarBase ID miRNA Experiments Reference
MIRT024174 hsa-miR-221-3p Sequencing 20371350
MIRT028563 hsa-miR-30a-5p Proteomics 18668040
MIRT048220 hsa-miR-196a-5p CLASH 23622248
MIRT046433 hsa-miR-15b-5p CLASH 23622248
MIRT043897 hsa-miR-378a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0002761 Process Regulation of myeloid leukocyte differentiation IEA
GO:0002829 Process Negative regulation of type 2 immune response IEA
GO:0005515 Function Protein binding IPI 18776082, 19706893, 25631046, 26363003, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612050 17592 ENSG00000131507
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BT67
Protein 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)
Protein function Activates HECT domain-containing E3 ubiquitin-protein ligases, including NEDD4 and ITCH, and consequently modulates the stability of their targets. As a result, controls many cellular processes. Prevents chronic T-helper cell-mediated inflammati
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10176 DUF2370 54 173 Protein of unknown function (DUF2370) Family
Tissue specificity 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:0000269|PubMed:11748237}.
Sequence
MALALAALAAVEPACGSRYQQLQNEEESGEPEQAAGDAPPPYSSISAESAAYFDYKDESG
FPKPPSYNVATTLPSYDEAERTKAEATIPLVPGRDEDFVGRDDFDDADQLRIGNDGIFML
TFFMAFLFNWIGFFLSFCLTTSAAGRYGAISGFGLSLIKWILIVRFSTYFPGY
FDGQYWL
WWVFLVLGFLLFLRGFINYAKVRKMPETFSNLPRTRVLFIY
Sequence length 221
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 21907864
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 21907864, 25997986 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASCAT_DG 27182965, 29273806, 30929738
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Childhood asthma Asthma GWASCAT_DG 30929738, 31036433
★☆☆☆☆
Found in Text Mining only
Cholangitis, Sclerosing Cholangitis GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 28051111
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26192919, 26974007, 28067908
★☆☆☆☆
Found in Text Mining only
Diabetes, Autoimmune Autoimmune Diabetes BEFREE 30021156
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 23128233, 26192919, 28067908
★☆☆☆☆
Found in Text Mining only