Target intelligence / Profile preview

Family with sequence similarity 114 member A1 (FAM114A1)

Target
FAM114A1
Molecular classification
Other (uncharacterized protein family, sometimes described as containing a caspase recruitment domain CARD)
01

Overview

Family with sequence similarity 114 member A1 (FAM114A1), also known as Protein NOXP20, encodes a cytoplasmic protein implicated in neuronal cell development and the regulation of melanocyte biology, particularly apoptosis, proliferation, and melanin synthesis[1][2][3]. FAM114A1 contains a caspase recruitment domain and is most abundantly expressed in the nervous system, as well as in the embryonic and adult brain[1]. It exerts a regulatory influence in various cell types including melanocytes and immune cells, and may act through the modulation of RACK1, an intracellular adaptor protein, particularly in controlling apoptosis in melanocytes[1][2]. Genetic and expression studies suggest roles in multiple diseases, including pigmentary disorders (vitiligo), autoimmune diseases (ankylosing spondylitis, autoimmune enteritis), liver fibrosis, and some cancers, where its expression serves as a prognostic biomarker[2]. The protein is multifaceted, but there is currently no evidence it functions as a typical druggable therapeutic target such as a receptor or enzyme[1][2][3][4][5].

Other names
Protein NOXP20NOXP20Nervous system overexpressed protein 20Noxp20Nervous system over-expressed protein 20
02

Biological functions

Neuronal cell developmentRegulation of melanocyte apoptosis, proliferation, migration, and melanin synthesisModulation of immune response (linked to immune gene loci and polymorphisms)Regulation of cellular stress responsePossible involvement in programmed cell death (apoptosis) during nervous system development
03

Disease associations

Autoimmune disease (ankylosing spondylitis, autoimmune enteritis)Pigmentary skin disorders (vitiligo)Cancer (expression signatures and prognostic markers in breast and prostate cancer)Liver disease (possible role in liver fibrosis and cirrhosis)Neurodegenerative diseases (implicated but not fully established)
04

Biomarkers

Cancer prognosis (part of gene expression signatures in aggressive cancers)Immune activity (expression quantitative trait loci affecting immune response, e.g., to Helicobacter pylori)

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