Gene Gene information from NCBI Gene database.
Entrez ID 7126
Gene name TNF alpha induced protein 1
Gene symbol TNFAIP1
Synonyms (NCBI Gene)
B12B61BTBD34EDP1hBACURD2
Chromosome 17
Chromosome location 17q11.2
Summary This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a
miRNA miRNA information provided by mirtarbase database.
712
miRTarBase ID miRNA Experiments Reference
MIRT002521 hsa-miR-373-3p Microarray 15685193
MIRT002521 hsa-miR-373-3p Microarray;Other 15685193
MIRT051605 hsa-let-7e-5p CLASH 23622248
MIRT051004 hsa-miR-17-5p CLASH 23622248
MIRT042325 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 19782033
GO:0005515 Function Protein binding IPI 19615732, 19637314, 21145461, 21988832, 25416956, 28514442, 32296183, 32814053, 33961781, 34591642
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 19637314
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191161 11894 ENSG00000109079
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13829
Protein name BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 (hBACURD2) (BTB/POZ domain-containing protein TNFAIP1) (Protein B12) (Tumor necrosis factor, alpha-induced protein 1, endothelial)
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradatio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 30 120 BTB/POZ domain Domain
Sequence
MSGDTCLCPASGAKPKLSGFKGGGLGNKYVQLNVGGSLYYTTVRALTRHDTMLKAMFSGR
MEVLTDKEGWILIDRCGKHFGTILNYLRDDTITLPQNRQEIKELMAEAKYYLIQGLVNMC

QSALQDKKDSYQPVCNIPIITSLKEEERLIESSTKPVVKLLYNRSNNKYSYTSNSDDHLL
KNIELFDKLSLRFNGRVLFIKDVIGDEICCWSFYGQGRKLAEVCCTSIVYATEKKQTKVE
FPEARIYEETLNVLLYETPRVPDNSLLEATSRSRSQASPSEDEETFELRDRVRRIHVKRY
STYDDRQLGHQSTHRD
Sequence length 316
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
DIABETIC NEPHROPATHIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY Disgenet
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 32732921 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19389261, 19838916, 20158880
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20158880 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32327643 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34972816 Associate
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy CTD_human_DG 20665664
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms Head and neck neoplasm Pubtator 34344926 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32327643 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 19389261, 19838916, 20158880
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 26152285
★☆☆☆☆
Found in Text Mining only