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Aliases for CRYL1 Gene

Aliases for CRYL1 Gene

  • Crystallin Lambda 1 2 3 5
  • L-Gulonate 3-Dehydrogenase 2 3 4
  • Crystallin, Lambda 1 2 3
  • Gul3DH 3 4
  • Testicular Tissue Protein Li 44 3
  • Epididymis Luminal Protein 30 3
  • Lambda-Crystallin Homolog 2
  • Crystallin, Lamda 1 3
  • EC 1.1.1.45 4
  • Crystallin 2
  • Lambda-CRY 3
  • Lamda 1 2
  • HEL30 3
  • GDH 3
  • CRY 4

External Ids for CRYL1 Gene

Previous GeneCards Identifiers for CRYL1 Gene

  • GC13M018957
  • GC13M014957
  • GC13M019907
  • GC13M018775
  • GC13M019875
  • GC13M020977
  • GC13M001781

Summaries for CRYL1 Gene

Entrez Gene Summary for CRYL1 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 requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYL1 Gene

CRYL1 (Crystallin Lambda 1) is a Protein Coding gene. Diseases associated with CRYL1 include deafness, autosomal recessive 93. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and NAD+ binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYL1 Gene

Genomics for CRYL1 Gene

Regulatory Elements for CRYL1 Gene

Promoters for CRYL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CRYL1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYL1 Gene

Chromosome:
13
Start:
20,403,667 bp from pter
End:
20,525,873 bp from pter
Size:
122,207 bases
Orientation:
Minus strand

Genomic View for CRYL1 Gene

Genes around CRYL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYL1 Gene

Proteins for CRYL1 Gene

  • Protein details for CRYL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2S2-CRYL1_HUMAN
    Recommended name:
    Lambda-crystallin homolog
    Protein Accession:
    Q9Y2S2
    Secondary Accessions:
    • A0PJ43
    • B3KN92
    • Q0VDI1
    • Q7Z4Z9
    • Q9P0G7

    Protein attributes for CRYL1 Gene

    Size:
    319 amino acids
    Molecular mass:
    35419 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAD27782.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAD27782.1; Type=Miscellaneous discrepancy; Note=Unknown reasons.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CRYL1 Gene

    Alternative splice isoforms for CRYL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRYL1 Gene

Proteomics data for CRYL1 Gene at MOPED

Post-translational modifications for CRYL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CRYL1 Gene

Domains & Families for CRYL1 Gene

Suggested Antigen Peptide Sequences for CRYL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2S2

UniProtKB/Swiss-Prot:

CRYL1_HUMAN :
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
Family:
  • Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with CRYL1: view

No data available for Gene Families for CRYL1 Gene

Function for CRYL1 Gene

Molecular function for CRYL1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.01 mM for NAD {ECO:0000269 PubMed:15809331}; KM=0.0008 mM for NADH {ECO:0000269 PubMed:15809331};
UniProtKB/Swiss-Prot CatalyticActivity:
L-gulonate + NAD(+) = 3-dehydro-L-gulonate + NADH.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by malonate.

Enzyme Numbers (IUBMB) for CRYL1 Gene

Gene Ontology (GO) - Molecular Function for CRYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0070403 NAD+ binding IEA,IDA 15809331
genes like me logo Genes that share ontologies with CRYL1: view
genes like me logo Genes that share phenotypes with CRYL1: view

Animal Model Products

miRNA for CRYL1 Gene

miRTarBase miRNAs that target CRYL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CRYL1 Gene

Localization for CRYL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYL1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYL1 Gene COMPARTMENTS Subcellular localization image for CRYL1 gene
Compartment Confidence
cytosol 5
extracellular 5
golgi apparatus 5
nucleus 5
plasma membrane 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for CRYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CRYL1: view

Pathways & Interactions for CRYL1 Gene

genes like me logo Genes that share pathways with CRYL1: view

Pathways by source for CRYL1 Gene

Interacting Proteins for CRYL1 Gene

Gene Ontology (GO) - Biological Process for CRYL1 Gene

None

No data available for SIGNOR curated interactions for CRYL1 Gene

Drugs & Compounds for CRYL1 Gene

(3) Drugs for CRYL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
NAD Pharma Full agonist, Agonist 0
NADH Nutra 0

(4) Additional Compounds for CRYL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-hydroxyhexadecanoyl-coenzyme A
  • (S)-3-hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-Coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
3-Dehydro-L-gulonate
  • 3-Dehydro-L-gulonic acid
  • L-Xylo-hex-3-ulosonic acid
Gulonic acid
  • D-Gulonate
  • D-Gulonic acid
  • Gulonate
  • L-Gulonate
  • L-Gulonic acid
20246-53-1
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with CRYL1: view

Transcripts for CRYL1 Gene

Unigene Clusters for CRYL1 Gene

Crystallin, lambda 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRYL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for CRYL1 Gene

GeneLoc Exon Structure for
CRYL1
ECgene alternative splicing isoforms for
CRYL1

Expression for CRYL1 Gene

mRNA expression in normal human tissues for CRYL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYL1 Gene

This gene is overexpressed in Kidney - Cortex (x5.3) and Liver (x4.6).

Protein differential expression in normal tissues from HIPED for CRYL1 Gene

This gene is overexpressed in Kidney (11.4), Liver, secretome (8.7), and Liver (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CRYL1 Gene



SOURCE GeneReport for Unigene cluster for CRYL1 Gene Hs.370703

mRNA Expression by UniProt/SwissProt for CRYL1 Gene

Q9Y2S2-CRYL1_HUMAN
Tissue specificity: Widely expressed, with highest levels in liver and kidney.
genes like me logo Genes that share expression patterns with CRYL1: view

Protein tissue co-expression partners for CRYL1 Gene

Primer Products

In Situ Assay Products

Orthologs for CRYL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CRYL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYL1 36
  • 100 (a)
OneToOne
CRYL1 35
  • 99.37 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia CRYL1 35
  • 77.39 (n)
  • 76.34 (a)
CRYL1 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYL1 36
  • 68 (a)
OneToOne
CRYL1 35
  • 84.85 (n)
  • 82.76 (a)
mouse
(Mus musculus)
Mammalia Cryl1 36
  • 84 (a)
OneToOne
Cryl1 16
Cryl1 35
  • 82.03 (n)
  • 84.01 (a)
oppossum
(Monodelphis domestica)
Mammalia CRYL1 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYL1 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cryl1 35
  • 82.65 (n)
  • 84.64 (a)
chicken
(Gallus gallus)
Aves CRYL1 35
  • 68.61 (n)
  • 66.79 (a)
CRYL1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRYL1 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cryl1 35
  • 65.7 (n)
  • 63.67 (a)
Str.4182 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1375 35
zebrafish
(Danio rerio)
Actinopterygii cryl1 36
  • 54 (a)
OneToOne
cryl1 35
  • 59.96 (n)
  • 56.23 (a)
Dr.13038 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013544 35
  • 56.43 (n)
  • 52.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10131 36
  • 45 (a)
OneToMany
CG9914 36
  • 51 (a)
OneToMany
CG9914 35
  • 54.83 (n)
  • 52.12 (a)
CG10131 37
  • 41 (a)
CG9914 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea Y71F9B.9 36
  • 43 (a)
OneToOne
Y71F9B.9 37
  • 36 (a)
Species with no ortholog for CRYL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CRYL1 Gene

ENSEMBL:
Gene Tree for CRYL1 (if available)
TreeFam:
Gene Tree for CRYL1 (if available)

Paralogs for CRYL1 Gene

No data available for Paralogs for CRYL1 Gene

Variants for CRYL1 Gene

Sequence variations from dbSNP and Humsavar for CRYL1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs9847 -- 20,403,858(-) CTTTT(C/T)TTTTC utr-variant-3-prime
rs953958 -- 20,430,599(-) GAGCC(A/G/T)TGGAG intron-variant
rs1928374 -- 20,430,677(-) GCCCA(C/T)TCAAG intron-variant
rs2183207 -- 20,431,637(-) AATGC(C/T)TGTCT intron-variant
rs2872445 -- 20,507,835(-) gttca(C/T)gccat intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYL1 Gene

Variant ID Type Subtype PubMed ID
esv2751132 CNV Loss 17911159
dgv1554n71 CNV Loss 21882294
dgv221n27 CNV Loss 19166990
esv34984 CNV Loss 17911159
dgv545e1 CNV Complex 17122850
nsv818947 CNV Loss 17921354
dgv1555n71 CNV Loss 21882294
esv27122 CNV Gain 19812545
esv1659805 CNV Insertion 17803354
esv2747062 CNV Deletion 23290073
dgv240e201 CNV Deletion 23290073
esv2747066 CNV Deletion 23290073
esv7898 CNV Gain 19470904

Variation tolerance for CRYL1 Gene

Residual Variation Intolerance Score: 64.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYL1 Gene

HapMap Linkage Disequilibrium report
CRYL1
Human Gene Mutation Database (HGMD)
CRYL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYL1 Gene

Disorders for CRYL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CRYL1 Gene - From: GeneTests

Disorder Aliases PubMed IDs
deafness, autosomal recessive 93
  • deafness, autosomal recessive, 93
- elite association - COSMIC cancer census association via MalaCards
Search CRYL1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CRYL1

Genetic Association Database (GAD)
CRYL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYL1
genes like me logo Genes that share disorders with CRYL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRYL1 Gene

Publications for CRYL1 Gene

  1. Human CRYL1, a novel enzyme-crystallin overexpressed in liver and kidney and downregulated in 58% of liver cancer tissues from 60 Chinese patients, and four new homologs from other mammalians. (PMID: 12527201) Chen J. … Zhao S. (Gene 2003) 2 3 4 23 67
  2. Structural and functional characterization of rabbit and human L- gulonate 3-dehydrogenase. (PMID: 15809331) Ishikura S. … Hara A. (J. Biochem. 2005) 3 23
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3
  4. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3
  5. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. (PMID: 23648065) Low S.K. … Nakamura Y. (Cancer Sci. 2013) 3

Products for CRYL1 Gene

Sources for CRYL1 Gene

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