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    CRYZ crystallin zeta [ Homo sapiens (human) ]

    Gene ID: 1429, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CRYZprovided by HGNC
    Official Full Name
    crystallin zetaprovided by HGNC
    Primary source
    HGNC:HGNC:2419
    See related
    Ensembl:ENSG00000116791 MIM:123691; AllianceGenome:HGNC:2419
    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
    Summary
    Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent quinone reductase activity distinct from other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]
    Expression
    Broad expression in kidney (RPKM 99.6), liver (RPKM 48.8) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CRYZ in Genome Data Viewer
    Location:
    1p31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (74705486..74733050, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (74547169..74574691, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (75171170..75198734, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene FPGT-TNNI3K readthrough Neighboring gene TNNI3 interacting kinase Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:74994213-74994947 Neighboring gene leucine rich repeat containing 53 Neighboring gene ERICH3 antisense RNA 1 Neighboring gene glutamate rich 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:75187729-75188286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1199 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:75198416-75199126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1201 Neighboring gene NANOG hESC enhancer GRCh37_chr1:75311356-75311857 Neighboring gene tRNA-yW synthesizing protein 3 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75342688-75343188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75343189-75343689 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:75417464-75418002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75452641-75453140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:75548004-75548706 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:75548707-75549409 Neighboring gene Sharpr-MPRA regulatory region 8849 Neighboring gene MPRA-validated peak288 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:75597021-75598220 Neighboring gene LHX8 antisense RNA 1 Neighboring gene LIM homeobox 8

    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. Kinetic and structural evidence of the alkenal/one reductase specificity of human ζ-crystallin. Porté S, et al. Cell Mol Life Sci, 2011 Mar. PMID 20835842, Free PMC Article
    2. zeta-Crystallin is a bcl-2 mRNA binding protein involved in bcl-2 overexpression in T-cell acute lymphocytic leukemia. Lapucci A, et al. FASEB J, 2010 Jun. PMID 20103721, Free PMC Article
    3. Functional implications of antiestrogen induction of quinone reductase: inhibition of estrogen-induced deoxyribonucleic acid damage. Bianco NR, et al. Mol Endocrinol, 2003 Jul. PMID 12714703
    4. Zeta-crystallin: a moonlighting player in cancer. Lulli M, et al. Cell Mol Life Sci, 2020 Mar. PMID 31563996, Free PMC Article
    5. Molecular cloning and sequencing of zeta-crystallin/quinone reductase cDNA from human liver. Gonzalez P, et al. Biochem Biophys Res Commun, 1993 Mar 31. PMID 8466529

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Zeta-crystallin is a moonlighting protein endowed with two main different functions: (1) mRNA binding with stabilizing activity; (2) NADPH:quinone oxidoreductase. Zeta-crystallin has been clearly demonstrated to stabilize mRNAs encoding proteins involved in renal glutamine catabolism during metabolic acidosis resulting in ammoniagenesis and bicarbonate ion production that concur to compensate such condition. [review]
      Title: Zeta-crystallin: a moonlighting player in cancer.
    2. Our results suggest that genetic variants in TYW3/CRYZ and NDST4 loci may be involved in the regulation of circulating resistin levels
      Title: Genome-wide association analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.
    3. role of Zta1p in the yeast adaptation to some stress types and the general functional significance of zeta-crystallins
      Title: Novel alkenal/one reductase activity of yeast NADPH:quinone reductase Zta1p. Prospect of the functional role for the ζ-crystallin family.
    4. novel enzymatic activity for human zeta-crystallin, the double- bond a,b-hydrogenation of 2-alkenals and 3-alkenones, was identified.
      Title: Kinetic and structural evidence of the alkenal/one reductase specificity of human ζ-crystallin.
    5. zeta-Crystallin is a bcl-2 mRNA binding protein involved in bcl-2 overexpression in T-cell acute lymphocytic leukemia.
      Title: zeta-Crystallin is a bcl-2 mRNA binding protein involved in bcl-2 overexpression in T-cell acute lymphocytic leukemia.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: [Polymorphism of MAO-B gene and NAD(P)H: quinone oxidoreductase gene in Parkinson's disease].
    7. up-regulation of quinone reductase can protect breast cells against oxidative DNA damage
      Title: Functional implications of antiestrogen induction of quinone reductase: inhibition of estrogen-induced deoxyribonucleic acid damage.
    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 analysis identifies TYW3/CRYZ and NDST4 loci associated with circulating resistin levels.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of crystallin, zeta (CRYZ; quinone reductase) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ41475, DKFZp779E0834

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables NADH binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NADPH binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NADPH binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables NADPH:quinone reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NADPH:quinone reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables mRNA 3'-UTR binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein homotetramerization IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in xenobiotic catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    quinone oxidoreductase
    Names
    NADPH:quinone reductase
    crystallin, zeta (quinone reductase)
    epididymis secretory sperm binding protein
    NP_001123514.1
    NP_001123515.1
    NP_001128231.1
    NP_001880.2
    XP_011539049.1
    XP_016855856.1
    XP_047302707.1
    XP_054190511.1
    XP_054190512.1
    XP_054190513.1

    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.

    Genomic

    1. NG_029880.1 RefSeqGene

      Range
      5359..32923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130042.2 → NP_001123514.1  quinone oxidoreductase isoform a

      See identical proteins and their annotated locations for NP_001123514.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      BC039578, BC070058, DA256305
      Consensus CDS
      CCDS665.1
      UniProtKB/Swiss-Prot
      A6NN60, D3DQ76, Q08257, Q53FT0, Q59EU7, Q5HYE7, Q6NSK9
      UniProtKB/TrEMBL
      A0A384P5L2
      Related
      ENSP00000399805.1, ENST00000417775.5
      Conserved Domains (2) summary
      cd08253
      Location:8 → 329
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:8 → 327
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    2. NM_001130043.2 → NP_001123515.1  quinone oxidoreductase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK314813, BC039578, DA256305
      Consensus CDS
      CCDS44162.1
      UniProtKB/TrEMBL
      A0A384P5L2
      Related
      ENSP00000359908.3, ENST00000370871.7
      Conserved Domains (2) summary
      cd08253
      Location:8 → 295
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:8 → 293
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    3. NM_001134759.2 → NP_001128231.1  quinone oxidoreductase isoform c

      See identical proteins and their annotated locations for NP_001128231.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and CDS compard to variant 1. The resulting isoform (c) has a different and much shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC091611, BC039578, BX647883
      Consensus CDS
      CCDS44163.1
      UniProtKB/Swiss-Prot
      Q08257
      Related
      ENSP00000359909.3, ENST00000370872.7
      Conserved Domains (2) summary
      cd08253
      Location:3 → 192
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:9 → 190
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    4. NM_001889.4 → NP_001880.2  quinone oxidoreductase isoform a

      See identical proteins and their annotated locations for NP_001880.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      BC039578, DA256305
      Consensus CDS
      CCDS665.1
      UniProtKB/Swiss-Prot
      A6NN60, D3DQ76, Q08257, Q53FT0, Q59EU7, Q5HYE7, Q6NSK9
      UniProtKB/TrEMBL
      A0A384P5L2
      Related
      ENSP00000339399.5, ENST00000340866.10
      Conserved Domains (2) summary
      cd08253
      Location:8 → 329
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:8 → 327
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      74705486..74733050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000367.3 → XP_016855856.1  quinone oxidoreductase isoform X2

      UniProtKB/TrEMBL
      A0A384P5L2
      Conserved Domains (2) summary
      cd08253
      Location:8 → 295
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:8 → 293
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    2. XM_047446751.1 → XP_047302707.1  quinone oxidoreductase isoform X2

    3. XM_011540747.3 → XP_011539049.1  quinone oxidoreductase isoform X1

      See identical proteins and their annotated locations for XP_011539049.1

      UniProtKB/Swiss-Prot
      A6NN60, D3DQ76, Q08257, Q53FT0, Q59EU7, Q5HYE7, Q6NSK9
      UniProtKB/TrEMBL
      A0A384P5L2
      Conserved Domains (2) summary
      cd08253
      Location:8 → 329
      zeta_crystallin; Zeta-crystallin with NADP-dependent quinone reductase activity (QOR)
      COG0604
      Location:8 → 327
      Qor; NADPH:quinone reductase or related Zn-dependent oxidoreductase [Energy production and conversion, General function prediction only]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      74547169..74574691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334537.1 → XP_054190512.1  quinone oxidoreductase isoform X2

    2. XM_054334536.1 → XP_054190511.1  quinone oxidoreductase isoform X1

    3. XM_054334538.1 → XP_054190513.1  quinone oxidoreductase isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q08257.1 GenPept UniProtKB/Swiss-Prot:Q08257

    Gene LinkOut

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

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