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CRYL1 (crystallin lambda 1)

Identity

Alias_namescrystallin
Alias_symbol (synonym)GDH
lambda-CRY
MGC149525
MGC149526
Other aliasHEL30
HGNC (Hugo) CRYL1
LocusID (NCBI) 51084
Atlas_Id 54240
Location 13q12.11  [Link to chromosome band 13q12]
Location_base_pair Starts at 20403667 and ends at 20525873 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP8A2 (13q12.13) / CRYL1 (13q12.11)CRYL1 (13q12.11) / ATPAF1 (1p33)CRYL1 (13q12.11) / ATRNL1 (10q25.3)
CRYL1 (13q12.11) / NDRG2 (14q11.2)CRYL1 (13q12.11) / RBFOX1 (16p13.3)CRYL1 (13q12.11) / SPACA7 (13q34)
CRYL1 (13q12.11) / TCF25 (16q24.3)NCAM2 (21q21.1) / CRYL1 (13q12.11)PSPC1 (13q12.11) / CRYL1 (13q12.11)
USP31 (16p12.2) / CRYL1 (13q12.11)ATP8A2 13q12.13 / CRYL1 13q12.11CRYL1 13q12.11 / SPACA7 13q34
NCAM2 21q21.1 / CRYL1 13q12.11PSPC1 13q12.11 / CRYL1 13q12.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CRYL1   18246
Cards
Entrez_Gene (NCBI)CRYL1  51084  crystallin lambda 1
AliasesGDH; HEL30; lambda-CRY
GeneCards (Weizmann)CRYL1
Ensembl hg19 (Hinxton)ENSG00000165475 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165475 [Gene_View]  chr13:20403667-20525873 [Contig_View]  CRYL1 [Vega]
ICGC DataPortalENSG00000165475
TCGA cBioPortalCRYL1
AceView (NCBI)CRYL1
Genatlas (Paris)CRYL1
WikiGenes51084
SOURCE (Princeton)CRYL1
Genetics Home Reference (NIH)CRYL1
Genomic and cartography
GoldenPath hg38 (UCSC)CRYL1  -     chr13:20403667-20525873 -  13q12.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYL1  -     13q12.11   [Description]    (hg19-Feb_2009)
EnsemblCRYL1 - 13q12.11 [CytoView hg19]  CRYL1 - 13q12.11 [CytoView hg38]
Mapping of homologs : NCBICRYL1 [Mapview hg19]  CRYL1 [Mapview hg38]
OMIM609877   
Gene and transcription
Genbank (Entrez)AF077049 AF087898 AF160216 AK024041 AK301605
RefSeq transcript (Entrez)NM_015974
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRYL1
Cluster EST : UnigeneHs.370703 [ NCBI ]
CGAP (NCI)Hs.370703
Alternative Splicing GalleryENSG00000165475
Gene ExpressionCRYL1 [ NCBI-GEO ]   CRYL1 [ EBI - ARRAY_EXPRESS ]   CRYL1 [ SEEK ]   CRYL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51084
GTEX Portal (Tissue expression)CRYL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2S2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2S2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2S2
Splice isoforms : SwissVarQ9Y2S2
Catalytic activity : Enzyme1.1.1.45 [ Enzyme-Expasy ]   1.1.1.451.1.1.45 [ IntEnz-EBI ]   1.1.1.45 [ BRENDA ]   1.1.1.45 [ KEGG ]   
PhosPhoSitePlusQ9Y2S2
Domaine pattern : Prosite (Expaxy)3HCDH (PS00067)   
Domains : Interpro (EBI)3-OHacyl-CoA_DH    3-OHacyl-CoA_DH_CS    3-OHacyl-CoA_DH_NAD-bd    3HC_DH_C    6-PGluconate_DH_C-like    6PGD_dom_2    NAD(P)-bd_dom   
Domain families : Pfam (Sanger)3HCDH (PF00725)    3HCDH_N (PF02737)   
Domain families : Pfam (NCBI)pfam00725    pfam02737   
Conserved Domain (NCBI)CRYL1
DMDM Disease mutations51084
Blocks (Seattle)CRYL1
PDB (SRS)3F3S   
PDB (PDBSum)3F3S   
PDB (IMB)3F3S   
PDB (RSDB)3F3S   
Structural Biology KnowledgeBase3F3S   
SCOP (Structural Classification of Proteins)3F3S   
CATH (Classification of proteins structures)3F3S   
SuperfamilyQ9Y2S2
Human Protein AtlasENSG00000165475
Peptide AtlasQ9Y2S2
HPRD16762
IPIIPI00006443   IPI00645031   IPI00909277   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2S2
IntAct (EBI)Q9Y2S2
FunCoupENSG00000165475
BioGRIDCRYL1
STRING (EMBL)CRYL1
ZODIACCRYL1
Ontologies - Pathways
QuickGOQ9Y2S2
Ontology : AmiGO3-hydroxyacyl-CoA dehydrogenase activity  cytosol  cytosol  fatty acid metabolic process  glucuronate catabolic process to xylulose 5-phosphate  protein homodimerization activity  L-gulonate 3-dehydrogenase activity  L-gulonate 3-dehydrogenase activity  oxidation-reduction process  extracellular exosome  NAD+ binding  
Ontology : EGO-EBI3-hydroxyacyl-CoA dehydrogenase activity  cytosol  cytosol  fatty acid metabolic process  glucuronate catabolic process to xylulose 5-phosphate  protein homodimerization activity  L-gulonate 3-dehydrogenase activity  L-gulonate 3-dehydrogenase activity  oxidation-reduction process  extracellular exosome  NAD+ binding  
Pathways : KEGGPentose and glucuronate interconversions   
NDEx NetworkCRYL1
Atlas of Cancer Signalling NetworkCRYL1
Wikipedia pathwaysCRYL1
Orthology - Evolution
OrthoDB51084
GeneTree (enSembl)ENSG00000165475
Phylogenetic Trees/Animal Genes : TreeFamCRYL1
HOVERGENQ9Y2S2
HOGENOMQ9Y2S2
Homologs : HomoloGeneCRYL1
Homology/Alignments : Family Browser (UCSC)CRYL1
Gene fusions - Rearrangements
Fusion : MitelmanATP8A2/CRYL1 [13q12.13/13q12.11]  [t(13;13)(q12;q12)]  
Fusion : MitelmanCRYL1/SPACA7 [13q12.11/13q34]  [t(13;13)(q12;q34)]  
Fusion : MitelmanNCAM2/CRYL1 [21q21.1/13q12.11]  [t(13;21)(q12;q21)]  
Fusion : MitelmanPSPC1/CRYL1 [13q12.11/13q12.11]  [t(13;13)(q12;q12)]  
Fusion : MitelmanUSP31/CRYL1 [16p12.2/13q12.11]  [t(13;16)(q12;p12)]  
Fusion: TCGAATP8A2 13q12.13 CRYL1 13q12.11 OV
Fusion: TCGACRYL1 13q12.11 SPACA7 13q34 KIRC
Fusion: TCGANCAM2 21q21.1 CRYL1 13q12.11 PRAD
Fusion: TCGAPSPC1 13q12.11 CRYL1 13q12.11 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYL1
dbVarCRYL1
ClinVarCRYL1
1000_GenomesCRYL1 
Exome Variant ServerCRYL1
ExAC (Exome Aggregation Consortium)CRYL1 (select the gene name)
Genetic variants : HAPMAP51084
Genomic Variants (DGV)CRYL1 [DGVbeta]
DECIPHERCRYL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYL1 
Mutations
ICGC Data PortalCRYL1 
TCGA Data PortalCRYL1 
Broad Tumor PortalCRYL1
OASIS PortalCRYL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CRYL1
EgiDB (Drug Gene Interaction Database)CRYL1
DoCM (Curated mutations)CRYL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYL1 (select a term)
intoGenCRYL1
Cancer3DCRYL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609877   
Orphanet
MedgenCRYL1
Genetic Testing Registry CRYL1
NextProtQ9Y2S2 [Medical]
TSGene51084
GENETestsCRYL1
Target ValidationCRYL1
Huge Navigator CRYL1 [HugePedia]
snp3D : Map Gene to Disease51084
BioCentury BCIQCRYL1
ClinGenCRYL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51084
Chemical/Pharm GKB GenePA26923
Clinical trialCRYL1
Miscellaneous
canSAR (ICR)CRYL1 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYL1
EVEXCRYL1
GoPubMedCRYL1
iHOPCRYL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:03:52 CEST 2017

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