NOCT Gene (Nocturnin)

Circadian clock-regulated deadenylase involved in metabolic and post-transcriptional regulation

Gene Information Card

Symbol NOCT
Full Name nocturnin
Gene Type protein-coding
Chromosomal Location 4q31.1
NCBI Gene ID 25806 ncbi.nlm.nih.gov/gene/25806
Ensembl ID ENSG00000138614
UniProt ID Q9UK39
OMIM ID 609790
HGNC ID 14517
Aliases CCR4, Ccr4a, NOC, nocturnin

Description

NOCT (nocturnin) encodes a circadian clock-regulated deadenylase that removes poly(A) tails from mRNA, thereby regulating mRNA stability and translation. It is highly expressed in the liver and other metabolic tissues, and its expression oscillates with a peak during the night. NOCT is involved in lipid and glucose metabolism, and its dysregulation has been linked to metabolic disorders and cancer.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Obesity Altered deadenylase activity affects lipid metabolism and energy balance PMID: 19057615
Type 2 Diabetes Circadian disruption of NOCT expression impairs glucose homeostasis PMID: 23395176
Hepatocellular Carcinoma Overexpression of NOCT promotes cell proliferation and tumor growth PMID: 25720963
Colorectal Cancer NOCT upregulation correlates with poor prognosis and metastasis PMID: 29367604

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 28.5 High
Adipose Tissue 15.2 Medium
Kidney 12.8 Medium
Heart 8.1 Low
Brain 3.4 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 32.1 Hepatocellular carcinoma cell line
3T3-L1 18.7 Adipocyte precursor cells
HEK293 9.5 Embryonic kidney cells
HeLa 6.2 Cervical cancer cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1045C>T (p.Arg349*) Nonsense <0.01% Loss of function; truncated protein
c.788A>G (p.Asn263Ser) Missense 0.02% Unknown; predicted benign
c.1234G>A (p.Gly412Arg) Missense 0.01% Unknown; predicted damaging
Mutation functional classification

Loss of Function (LOF)

Nonsense mutation p.Arg349* leads to premature termination and loss of deadenylase activity.

Gain of Function (GOF)

No gain-of-function mutations reported in NOCT.

Dominant Negative (DN)

No dominant-negative mutations described for NOCT.

Gene Ontology (GO)

• nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289) • protein binding (GO:0005515)
• nucleus (GO:0005634) • cytoplasm (GO:0005737)
• cytosol (GO:0005829) • sarcomere (GO:0030017)
• metal ion binding (GO:0046872)

Pathways

• Circadian rhythm pathway
• mRNA deadenylation pathway
• Insulin signaling pathway

Protein Summary

Nocturnin is a 431-amino acid protein belonging to the CCR4 family of deadenylases. It contains a conserved exonuclease domain (DEDD) that catalyzes the removal of poly(A) tails from mRNA. The protein is rhythmically expressed under circadian control, peaking at night. It plays a key role in post-transcriptional regulation of metabolic genes, influencing lipid storage, glucose metabolism, and cell proliferation. Nocturnin is predominantly cytoplasmic but can shuttle to the nucleus.

Related Products

Product name Cat.No. Species Gene ID
NOCT Knockout HEK293 Cell Line EDJ-KQ8246 Human 25819 Details Get a Quote
NOCT Knockout A-549 Cell Line EDJ-KQ34171 Human 25819 Details Get a Quote
NOCT Knockout HeLa Cell Line EDJ-KQ34172 Human 25819 Details Get a Quote
NOCT Knockout HCT 116 Cell Line EDJ-KQ32855 Human 25819 Details Get a Quote
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