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CRYL1 crystallin lambda 1 [ Homo sapiens (human) ]

Gene ID: 51084, updated on 22-Aug-2020

Summary

Official Symbol
CRYL1provided by HGNC
Official Full Name
crystallin lambda 1provided by HGNC
Primary source
HGNC:HGNC:18246
See related
Ensembl:ENSG00000165475 MIM:609877
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

Genomic context

See CRYL1 in Genome Data Viewer
Location:
13q12.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (20403669..20525857, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (20977806..21100012, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene gap junction protein beta 6 Neighboring gene uncharacterized LOC105370102 Neighboring gene microRNA 4499 Neighboring gene Sharpr-MPRA regulatory region 6807 Neighboring gene uncharacterized LOC105370103 Neighboring gene intraflagellar transport 88 Neighboring gene solute carrier family 35 member E1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149525, MGC149526

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-hydroxyacyl-CoA dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
L-gulonate 3-dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
L-gulonate 3-dehydrogenase activity IDA
Inferred from Direct Assay
more info
PubMed 
NAD+ binding IDA
Inferred from Direct Assay
more info
PubMed 
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
glucuronate catabolic process to xylulose 5-phosphate TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

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_016876113.1

NCBI Reference Sequences (RefSeq)

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_001363647.2NP_001350576.1  lambda-crystallin homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL161715, AL590096
    Consensus CDS
    CCDS86344.1
    Related
    ENSP00000493784.1, ENST00000644593.1
    Conserved Domains (1) summary
    cl27647
    Location:9260
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
  2. NM_015974.3NP_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
    Q9Y2S2
    UniProtKB/TrEMBL
    V9HWG2
    Related
    ENSP00000298248.7, ENST00000298248.12
    Conserved Domains (1) summary
    cl27647
    Location:9314
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017020624.1XP_016876113.1  lambda-crystallin homolog isoform X2

  2. XM_005266416.5XP_005266473.1  lambda-crystallin homolog isoform X3

    Related
    ENSP00000495342.1, ENST00000643887.1
    Conserved Domains (2) summary
    pfam00725
    Location:192211
    3HCDH; 3-hydroxyacyl-CoA dehydrogenase, C-terminal domain
    pfam02737
    Location:9186
    3HCDH_N; 3-hydroxyacyl-CoA dehydrogenase, NAD binding domain
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