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 struc... See more...

Aliases for CRYL1 Gene

Aliases for CRYL1 Gene

  • Crystallin Lambda 1 2 3 5
  • L-Gulonate 3-Dehydrogenase 2 3 4
  • Lambda-Crystallin Homolog 2 3 4
  • Crystallin, Lamda 1 2 3
  • Lambda-CRY 2 3
  • Gul3DH 3 4
  • GDH 2 3
  • Testicular Tissue Protein Li 44 3
  • Epididymis Luminal Protein 30 3
  • Crystallin, Lambda 1 2
  • EC 1.1.1.45 4
  • MGC149525 2
  • MGC149526 2
  • HEL30 3
  • CRYL1 5
  • 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 1B and Keratoderma, Palmoplantar, With Deafness. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and NAD+ binding. An important paralog of this gene is EHHADH.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CRYL1 Gene

Genomics for CRYL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CRYL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRYL1

Top Transcription factor binding sites by QIAGEN in the CRYL1 gene promoter:
  • AML1a
  • AREB6
  • GR
  • GR-alpha
  • GR-beta
  • Pbx1a
  • RORalpha2
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for CRYL1 Gene

Latest Assembly
chr13:20,403,666-20,525,873
(GRCh38/hg38)
Size:
122,208 bases
Orientation:
Minus strand

Previous Assembly
chr13:20,977,808-21,099,996
(GRCh37/hg19 by Entrez Gene)
Size:
122,189 bases
Orientation:
Minus strand

chr13:20,977,806-21,099,996
(GRCh37/hg19 by Ensembl)
Size:
122,191 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; 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

Post-translational modifications for CRYL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CRYL1 Gene

Domains & Families for CRYL1 Gene

Gene Families for CRYL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CRYL1 Gene

Suggested Antigen Peptide Sequences for CRYL1 Gene

GenScript: Design optimal peptide antigens:
  • L-gulonate 3-dehydrogenase (CRYL1_HUMAN)

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

Function for CRYL1 Gene

Molecular function for CRYL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-gulonate + NAD(+) = 3-dehydro-L-gulonate + H(+) + NADH; Xref=Rhea:RHEA:12889, ChEBI:CHEBI:13115, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57655, ChEBI:CHEBI:57945; EC=1.1.1.45;.
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 EnzymeRegulation:
Inhibited by malonate.

Enzyme Numbers (IUBMB) for CRYL1 Gene

Phenotypes From GWAS Catalog for CRYL1 Gene

Gene Ontology (GO) - Molecular Function for CRYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA 21873635
GO:0042803 protein homodimerization activity IPI 15809331
GO:0050104 L-gulonate 3-dehydrogenase activity IBA,IDA 15809331
genes like me logo Genes that share ontologies with CRYL1: view
genes like me logo Genes that share phenotypes with CRYL1: view

miRNA for CRYL1 Gene

miRTarBase miRNAs that target CRYL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYL1 gene
Compartment Confidence
extracellular 4
cytosol 4
nucleus 3
plasma membrane 2
mitochondrion 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
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

Gene Ontology (GO) - Biological Process for CRYL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006631 fatty acid metabolic process IEA --
GO:0019640 glucuronate catabolic process to xylulose 5-phosphate TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CRYL1: view

No data available for SIGNOR curated interactions for CRYL1 Gene

Drugs & Compounds for CRYL1 Gene

(4) Drugs for CRYL1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
NADH Approved Nutra 0
Acetoacetyl-CoA Experimental Pharma 0
NAD Experimental Pharma 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
  • Gulonate
  • D-Gulonate
  • D-Gulonic acid
  • L-Gulonate
  • L-Gulonic acid
20246-53-1
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with CRYL1: view

Transcripts for CRYL1 Gene

mRNA/cDNA for CRYL1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYL1

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

Expression for CRYL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for CRYL1 Gene



Protein tissue co-expression partners for CRYL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRYL1

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.

Evidence on tissue expression from TISSUES for CRYL1 Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Kidney(2.8)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with CRYL1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYL1 Gene

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 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CRYL1 29 30
  • 84.85 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cryl1 29
  • 82.65 (n)
Mouse
(Mus musculus)
Mammalia Cryl1 29 16 30
  • 82.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CRYL1 29 30
  • 77.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CRYL1 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CRYL1 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CRYL1 29 30
  • 68.61 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CRYL1 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cryl1 29
  • 65.7 (n)
Str.4182 29
Zebrafish
(Danio rerio)
Actinopterygii cryl1 29 30
  • 59.96 (n)
OneToOne
Dr.13038 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1375 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP013544 29
  • 56.43 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9914 29 30 31
  • 54.83 (n)
OneToMany
CG10131 30 31
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71F9B.9 30 31
  • 43 (a)
OneToOne
Species where no ortholog for CRYL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CRYL1: view image
Alliance of Genome Resources:
Additional Orthologs for CRYL1

Paralogs for CRYL1 Gene

Paralogs for CRYL1 Gene

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

Variants for CRYL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRYL1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs202040300 Benign: not provided 20,489,394(-) T/G
NM_015974.3(CRYL1):c.252A>C (p.Ala84=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CRYL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1612n100 CNV loss 25217958
dgv221n27 CNV loss 19166990
dgv3072n54 CNV loss 21841781
dgv3075n54 CNV loss 21841781
dgv959e59 CNV duplication 20981092
esv1659805 CNV insertion 17803354
esv27122 CNV gain 19812545
esv2751132 CNV loss 17911159
esv2759925 CNV loss 17122850
esv34984 CNV loss 17911159
esv3631430 CNV loss 21293372
esv3631431 CNV loss 21293372
esv3892301 CNV loss 25118596
esv3892302 CNV loss 25118596
esv7898 CNV gain 19470904
nsv1046946 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1124860 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151319 CNV insertion 26484159
nsv1151909 OTHER inversion 26484159
nsv818947 CNV loss 17921354
nsv952523 CNV deletion 24416366

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)

Additional Variant Information for CRYL1 Gene

Human Gene Mutation Database (HGMD)
CRYL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYL1
Leiden Open Variation Database (LOVD)
CRYL1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CRYL1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CRYL1 Gene - From: COP

Disorder Aliases PubMed IDs
deafness, autosomal recessive 1b
  • dfnb1b
keratoderma, palmoplantar, with deafness
  • palmoplantar keratoderma-deafness syndrome
deafness, autosomal recessive 1a
  • dfnb1a
- elite association - COSMIC cancer census association via MalaCards
Search CRYL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 22
  2. Structural and functional characterization of rabbit and human L-gulonate 3-dehydrogenase. (PMID: 15809331) Ishikura S … Hara A (Journal of biochemistry 2005) 3 4 22
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 3 4
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for CRYL1 Gene

Sources for CRYL1 Gene