Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51084
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin lambda 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYL1
Synonyms (NCBI Gene) Gene synonyms aliases
GDH, HEL30, gul3DH, lambda-CRY
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q12.11
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029226 hsa-miR-26b-5p Microarray 19088304
MIRT911182 hsa-miR-1587 CLIP-seq
MIRT911183 hsa-miR-1915 CLIP-seq
MIRT911184 hsa-miR-3605-3p CLIP-seq
MIRT911185 hsa-miR-3609 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol ISS
GO:0005829 Component Cytosol TAS
GO:0006631 Process Fatty acid metabolic process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609877 18246 ENSG00000165475
Protein
UniProt ID Q9Y2S2
Protein name Lambda-crystallin homolog (EC 1.1.1.45) (L-gulonate 3-dehydrogenase) (Gul3DH)
Protein function Has high L-gulonate 3-dehydrogenase activity. It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate.
PDB 3F3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02737 3HCDH_N 8 190 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain Domain
PF00725 3HCDH 192 283 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in liver and kidney. {ECO:0000269|PubMed:12527201}.
Sequence
Sequence length 319
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pentose and glucuronate interconversions
Metabolic pathways
  Formation of xylulose-5-phosphate
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Postmenopausal breast cancer N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24958192, 28206976
Carcinogenesis Associate 28489570
Carcinoma Hepatocellular Associate 28489570
Hearing Loss Sensorineural Associate 37683890
Neoplasms Associate 28489570