Protein-coding gene in the species Homo sapiens

TNIP1

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Aliases: TNIP1, ABIN-1, NAF1, VAN, nip40-1, TNFAIP3 interacting protein 1
External IDs: OMIM: 607714; MGI: 1926194; GeneCards: TNIP1
Chr.: Chromosome 5 (human)
Band: 5q33.1
End: 151,093,577 bp
Chr.: Chromosome 11 (mouse)
Band: 11|11 B1.3
End: 54,853,743 bp
BioGPS: More reference expression data
Databases: NCBI: entry; OMA: entry
Species: Human
Entrez: 10318
Ensembl: ENSG00000145901
UniProt: Q15025
RefSeq (mRNA): NM_001252385NM_001252386NM_001252390NM_001252391NM_001252392NM_001252393NM_001258454NM_001258455NM_001258456NM_006058NM_001364486NM_001364487
RefSeq (protein): NP_001239314NP_001239315NP_001239319NP_001239320NP_001239321NP_001239322NP_001245383NP_001245384NP_001245385NP_006049NP_001351415NP_001351416
Location (UCSC): Chr 5: 151.03 – 151.09 Mb

TNFAIP3-interacting protein 1, also known as ABIN-1, is a protein that in humans is encoded by the TNIP1 gene.

Association with autoimmune diseases

Genetic variations within the region of the TNIP1 gene have been shown to have association with several autoimmune diseases:

TNIP1 dysfunction or deficiency contributes to hyperinflammarion and may predispose healthy cells to the inflammatory response to otherwise innocuous TLR ligand exposure.

Association with neurodegenerative diseases

A recent genome-wide association study (GWAS) has found that genetic variations in TNIP1 are associated with late-onset sporadic Alzheimer's disease (LOAD).

Interactions

TNIP1 contains multiple amino acid sites that are phosphorylated and ubiquitinated, and has been shown to interact with TNFAIP3, MAP3K1, and MAPK1.

Regulation

TNIP1 was shown to be part of a transcription module controlled by BCL3. BCL3 gen was found to be strongly associated with Aβ42 after conditioning for APOE and was found as upregulated in the brain of patients with LOAD.