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    CRYL1 crystallin lambda 1 [ Homo sapiens (human) ]

    Gene ID: 51084, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CRYL1provided by HGNC
    Official Full Name
    crystallin lambda 1provided by HGNC
    Primary source
    HGNC:HGNC:18246
    See related
    Ensembl:ENSG00000165475 MIM:609877; AllianceGenome:HGNC:18246
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDH; HEL30; gul3DH; lambda-CRY
    Summary
    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]
    Expression
    Broad expression in kidney (RPKM 110.5), duodenum (RPKM 59.6) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYL1 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20403669..20525857, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19596766..19719067, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20977808..21099996, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32461 Neighboring gene gap junction protein beta 6 Neighboring gene uncharacterized LOC105370102 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr13:20924041-20924563 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20965718-20966226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20966227-20966734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:20979975-20980494 Neighboring gene NANOG hESC enhancer GRCh37_chr13:20986998-20987499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989417-20989998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:20989999-20990580 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7419 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7420 Neighboring gene microRNA 4499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:21067481-21067980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:21076097-21077093 Neighboring gene Sharpr-MPRA regulatory region 6807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5153 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7425 Neighboring gene Sharpr-MPRA regulatory region 3329 Neighboring gene uncharacterized LOC105370103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5154 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:21141501-21141689 Neighboring gene intraflagellar transport 88 Neighboring gene solute carrier family 35 member E1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment. Chiang YT, et al. J Mol Diagn, 2023 Nov. PMID 37683890
    2. Lambda-crystallin, a major rabbit lens protein, is related to hydroxyacyl-coenzyme A dehydrogenases. Mulders JW, et al. J Biol Chem, 1988 Oct 25. PMID 3170592
    3. Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric transcript in hepatocellular carcinoma. Huang Y, et al. Oncotarget, 2017 Jun 20. PMID 28489570, Free PMC Article
    4. Structural and functional characterization of rabbit and human L-gulonate 3-dehydrogenase. Ishikura S, et al. J Biochem, 2005 Mar. PMID 15809331
    5. 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. Chen J, et al. Gene, 2003 Jan 2. PMID 12527201

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.
      Title: Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.
    2. Data suggest that the function of the fusion transcript crystallin, lambda 1 protein - intraflagellar transport 88 (CRYL1-IFT88) is closed to CRYL1 because it contained most of domain of CRYL1.
      Title: Transcriptome profiling identifies a recurrent CRYL1-IFT88 chimeric transcript in hepatocellular carcinoma.
    3. rabbit lambda-crystallin constitutes 7-8% of total lens protein
      Title: Lambda-crystallin, a major rabbit lens protein, is related to hydroxyacyl-coenzyme A dehydrogenases.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149525, MGC149526

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-gulonate 3-dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-gulonate 3-dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NAD+ binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in D-glucuronate catabolic process to D-xylulose 5-phosphate IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    lambda-crystallin homolog
    Names
    L-gulonate 3-dehydrogenase
    crystallin, lamda 1
    epididymis luminal protein 30
    testicular tissue protein Li 44
    NP_001350576.1
    NP_057058.2
    XP_005266473.1
    XP_054230573.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001363647.2 → NP_001350576.1  lambda-crystallin homolog isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL161715, AL590096
      Consensus CDS
      CCDS86344.1
      UniProtKB/TrEMBL
      A0A2R8Y4K2
      Related
      ENSP00000493784.1, ENST00000644593.1
      Conserved Domains (1) summary
      cl27647
      Location:9 → 260
      3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

    2. NM_015974.3 → NP_057058.2  lambda-crystallin homolog isoform 1

      See identical proteins and their annotated locations for NP_057058.2

      Status: REVIEWED

      Source sequence(s)
      AL590096, BC071810, BC119660, BQ006686
      Consensus CDS
      CCDS41871.1
      UniProtKB/Swiss-Prot
      A0PJ43, B3KN92, Q0VDI1, Q7Z4Z9, Q9P0G7, Q9Y2S2
      UniProtKB/TrEMBL
      V9HWG2
      Related
      ENSP00000298248.7, ENST00000298248.12
      Conserved Domains (1) summary
      cl27647
      Location:9 → 314
      3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      20403669..20525857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005266416.6 → XP_005266473.1  lambda-crystallin homolog isoform X1

      UniProtKB/TrEMBL
      A0A2R8YFQ7
      Related
      ENSP00000495342.1, ENST00000643887.1
      Conserved Domains (2) summary
      pfam00725
      Location:192 → 211
      3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
      pfam02737
      Location:9 → 186
      3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      19596766..19719067 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374598.1 → XP_054230573.1  lambda-crystallin homolog isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y2S2.3 GenPept UniProtKB/Swiss-Prot:Q9Y2S2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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