• Gene id: 51084

Gene Summary

• Gene Symbol: CRYL1   Gene   UCSC   Ensembl
• Aliases: GDH, HEL30, gul3DH, lambda-CRY
• Gene name: crystallin lambda 1
• Alternate names: lambda-crystallin homolog, L-gulonate 3-dehydrogenase, crystallin, lamda 1, epididymis luminal protein 30, testicular tissue protein Li 44,
• Gene location: 13q12.11 (40844042: 40858206)     Exons: 11     NC_000015.10
• Gene summary(Entrez): The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme req
• OMIM: 609877

Protein Summary

• Protein general information: Q9Y2S2  
  • Name: Lambda crystallin homolog (EC 1.1.1.45) (L gulonate 3 dehydrogenase) (Gul3DH)
  • Length: 319  
  • Mass: 35419
  • Tissue specificity: Widely expressed, with highest levels in liver and kidney. {ECO
• Sequence:

  MASSAAGCVVIVGSGVIGRSWAMLFASGGFQVKLYDIEQQQIRNALENIRKEMKLLEQAGSLKGSLSVEEQLSLI
  SGCPNIQEAVEGAMHIQECVPEDLELKKKIFAQLDSIIDDRVILSSSTSCLMPSKLFAGLVHVKQCIVAHPVNPP
  YYIPLVELVPHPETAPTTVDRTHALMKKIGQCPMRVQKEVAGFVLNRLQYAIISEAWRLVEEGIVSPSDLDLVMS
  EGLGMRYAFIGPLETMHLNAEGMLSYCDRYSEGIKHVLQTFGPIPEFSRATAEKVNQDMCMKVPDDPEHLAARRQ
  WRDECLMRLAKLKSQVQPQ

• Structural information:
  • Interpro: IPR022694  IPR006180  IPR006176  IPR006108  IPR008927   IPR013328  IPR036291  
  • Prosite: PS00067
  • PDB: 3F3S
  • PDBsum: 3F3S
  • STRING: ENSP00000298248
• Other Databases: GeneCards:  CRYL1  Malacards:  CRYL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070403	NAD+ binding	IDA	molecular function
GO:0050104	L-gulonate 3-dehydrogenase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003857	3-hydroxyacyl-CoA dehydrogenase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0070403	NAD+ binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0050104	L-gulonate 3-dehydrogenase activity	IEA	molecular function
GO:0019640	glucuronate catabolic process to xylulose 5-phosphate	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00040	Pentose and glucuronate interconversions

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)