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CRYL1 crystallin lambda 1 [ Homo sapiens (human) ]

Gene ID: 51084, updated on 3-Apr-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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Location:
13q12.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (20403669..20525857, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (19596766..19719067, complement)
105.20220307 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
  • 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. 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
  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. Structural and functional characterization of rabbit and human L-gulonate 3-dehydrogenase. Ishikura S, et al. J Biochem, 2005 Mar. PMID 15809331
  4. 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
  5. Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. Low SK, et al. Cancer Sci, 2013 Aug. PMID 23648065, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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 fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in glucuronate catabolic process to xylulose 5-phosphate 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_2023_10

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

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