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.
View complete mutation data:
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • DNA photolyase activity (GO:0003913) | • photoreceptor activity (GO:0009881) |
| • circadian rhythm (GO:0007623) | • regulation of circadian rhythm (GO:0042752) |
| • DNA damage response (GO:0006974) | • protein binding (GO:0005515) |
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 Services
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 |
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