CRY1 (Cryptochrome Circadian Regulator 1)

A core component of the mammalian circadian clock, involved in transcriptional repression of clock-controlled genes.

Gene Information Card

Symbol CRY1
Full Name Cryptochrome Circadian Regulator 1
Gene Type Protein coding
Chromosomal Location 12q23.3
NCBI Gene ID 1407 ncbi.nlm.nih.gov/gene/1407
Ensembl ID ENSG00000008405
UniProt ID Q16526
OMIM ID 601933
HGNC ID 2384
Aliases PHLL1, CRY1a, cryptochrome 1 (photolyase-like)

Description

CRY1 encodes a flavin adenine dinucleotide (FAD)-binding protein that is a core component of the circadian clock. It forms a repressive complex with PER proteins (PER1, PER2, PER3) and translocates to the nucleus, where it inhibits CLOCK/BMAL1-mediated transcription of clock-controlled genes. CRY1 also functions in DNA damage repair and light-independent signaling.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Delayed Sleep Phase Disorder (DSPD) A missense variant (c.1657+3A>C) in CRY1 causes aberrant splicing, leading to a longer circadian period and delayed sleep onset. ClinVar, PMID: 28002403
Familial Advanced Sleep Phase Syndrome (FASPS) Rare CRY1 variants have been associated with altered circadian period length, though evidence is limited. OMIM #601933
Cancer (breast, colorectal) CRY1 overexpression is linked to poor prognosis; altered circadian gene expression may promote tumorigenesis. COSMIC, PMID: 26167880

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (cerebellum) 12.5 Medium
Liver 8.2 Medium
Heart (left ventricle) 6.1 Low
Testis 15.3 High
Adipose tissue 7.8 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK293 10.2 Embryonic kidney; high CRY1 expression
HeLa 7.5 Cervical carcinoma; moderate expression
HepG2 9.1 Hepatocellular carcinoma; moderate-high
MCF7 6.8 Breast cancer; moderate expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1657+3A>C Splice site variant 0.5% in European populations Aberrant splicing; longer circadian period; associated with DSPD
p.Arg316His Missense <0.01% Potential loss of repressor function; reported in circadian rhythm disorders
p.Ser588Leu Missense <0.01% Unknown functional effect; rare population variant
Mutation functional classification

Loss of Function (LOF)

c.1657+3A>C leads to a truncated protein with reduced repressor activity, lengthening the circadian period.

Gain of Function (GOF)

Not well documented; some missense variants may enhance repression but evidence is limited.

Dominant Negative (DN)

The c.1657+3A>C variant acts in a dominant-negative manner by producing a stable but non-functional protein that interferes with wild-type CRY1.

Pathways

Circadian rhythm (KEGG hsa04710)
Circadian entrainment (KEGG hsa04713)
CLOCK/BMAL1 transcriptional repression (Reactome R-HSA-400253)

Protein Summary

CRY1 is a 586-amino-acid flavoprotein that belongs to the cryptochrome/photolyase family. It contains an N-terminal photolyase-related domain and a C-terminal domain essential for interaction with PER proteins and CLOCK/BMAL1. CRY1 acts as a transcriptional repressor in the negative feedback loop of the circadian clock. It also participates in DNA repair through its photolyase-like domain, though its primary role in mammals is circadian regulation.

Related Products

Product name Cat.No. Species Gene ID
CRY1 Knockout HEK293 Cell Line EDJ-KQ3045 Human 1407 Details Get a Quote
CRY1 Knockout A-549 Cell Line EDJ-KQ22918 Human 1407 Details Get a Quote
CRY1 Knockout HCT 116 Cell Line EDJ-KQ24289 Human 1407 Details Get a Quote
CRY1 Knockout HeLa Cell Line EDJ-KQ24290 Human 1407 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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