• Gene id: 1407

Gene Summary

• Gene Symbol: CRY1   Gene   UCSC   Ensembl
• Aliases: DSPD, PHLL1
• Gene name: cryptochrome circadian regulator 1
• Alternate names: cryptochrome-1, cryptochrome 1 (photolyase-like), cryptochrome circadian clock 1,
• Gene location: 12q23.3 (107093871: 106991363)     Exons: 14     NC_000012.12
• Gene summary(Entrez): This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulatio
• OMIM: 601933

SNPs

rs886041025

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs781693813

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs756459525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754130052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

Protein Summary

• Protein general information: Q16526  
  • Name: Cryptochrome 1
  • Length: 586  
  • Mass: 66395
• Sequence:

  MGVNAVHWFRKGLRLHDNPALKECIQGADTIRCVYILDPWFAGSSNVGINRWRFLLQCLEDLDANLRKLNSRLFV
  IRGQPADVFPRLFKEWNITKLSIEYDSEPFGKERDAAIKKLATEAGVEVIVRISHTLYDLDKIIELNGGQPPLTY
  KRFQTLISKMEPLEIPVETITSEVIEKCTTPLSDDHDEKYGVPSLEELGFDTDGLSSAVWPGGETEALTRLERHL
  ERKAWVANFERPRMNANSLLASPTGLSPYLRFGCLSCRLFYFKLTDLYKKVKKNSSPPLSLYGQLLWREFFYTAA
  TNNPRFDKMEGNPICVQIPWDKNPEALAKWAEGRTGFPWIDAIMTQLRQEGWIHHLARHAVACFLTRGDLWISWE
  EGMKVFEELLLDADWSINAGSWMWLSCSSFFQQFFHCYCPVGFGRRTDPNGDYIRRYLPVLRGFPAKYIYDPWNA
  PEGIQKVAKCLIGVNYPKPMVNHAEASRLNIERMKQIYQQLSRYRGLGLLASVPSNPNGNGGFMGYSAENIPGCS
  SSGSCSQGSGILHYAHGDSQQTHLLKQGRSSMGTGLSGGKRPSQEEDTQSIGPKVQRQSTN

• Structural information:
  • Protein Domains: (3..13-)
    (/note="Photolyase/cryptochrome-alpha/beta")
  • Interpro: IPR036134  IPR036155  IPR005101  IPR006050  IPR014729  
  • Prosite: PS51645
  • DIP: 56602
  • STRING: ENSP00000008527
• Other Databases: GeneCards:  CRY1  Malacards:  CRY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	ISS	biological process
GO:0043153	entrainment of circadian clock by photoperiod	ISS	biological process
GO:0042593	glucose homeostasis	ISS	biological process
GO:0035257	nuclear hormone receptor binding	IPI	molecular function
GO:0031397	negative regulation of protein ubiquitination	ISS	biological process
GO:0006975	DNA damage induced protein phosphorylation	ISS	biological process
GO:0006094	gluconeogenesis	ISS	biological process
GO:0014823	response to activity	ISS	biological process
GO:2000001	regulation of DNA damage checkpoint	ISS	biological process
GO:0042754	negative regulation of circadian rhythm	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0033762	response to glucagon	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031398	positive regulation of protein ubiquitination	ISS	biological process
GO:0045721	negative regulation of gluconeogenesis	ISS	biological process
GO:0009416	response to light stimulus	ISS	biological process
GO:0007623	circadian rhythm	ISS	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0009881	photoreceptor activity	IEA	molecular function
GO:0018298	protein-chromophore linkage	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2000323	negative regulation of glucocorticoid receptor signaling pathway	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0045744	negative regulation of G protein-coupled receptor signaling pathway	IEA	biological process
GO:0043153	entrainment of circadian clock by photoperiod	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0035257	nuclear hormone receptor binding	IEA	molecular function
GO:0032868	response to insulin	IEA	biological process
GO:0031397	negative regulation of protein ubiquitination	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0006975	DNA damage induced protein phosphorylation	IEA	biological process
GO:0006094	gluconeogenesis	IEA	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:2000850	negative regulation of glucocorticoid secretion	IEA	biological process
GO:2000001	regulation of DNA damage checkpoint	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0045721	negative regulation of gluconeogenesis	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0042754	negative regulation of circadian rhythm	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0033762	response to glucagon	IEA	biological process
GO:0032922	circadian regulation of gene expression	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	IEA	biological process
GO:0019915	lipid storage	IEA	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0019900	kinase binding	IEA	molecular function
GO:0009416	response to light stimulus	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007623	circadian rhythm	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003914	DNA (6-4) photolyase activity	IDA	NOT|molecular function
GO:0003904	deoxyribodipyrimidine photo-lyase activity	IDA	NOT|molecular function
GO:0003690	double-stranded DNA binding	IDA	molecular function
GO:0009882	blue light photoreceptor activity	NAS	molecular function
GO:0009785	blue light signaling pathway	NAS	biological process
GO:0019902	phosphatase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Delayed sleep phase syndrome	KEGG:H00689
Delayed sleep phase syndrome	KEGG:H00689
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermiogenesis defects	MIK: 14695912
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray
14695912	Spermiogenesis defects				Male infertility