CRYZ crystallin zeta [Homo sapiens (human)] - Gene

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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].
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

D1S3201 (e-PCR)
- UniSTS:78401

RH68052 (e-PCR)
- UniSTS:19931

RH69010 (e-PCR)
- UniSTS:13284

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 more info	PubMed
located_in mitochondrion	HTP more info	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

EC 1.6.5.5

NP_001123515.1

EC 1.6.5.5

NP_001128231.1

EC 1.6.5.5

NP_001880.2

EC 1.6.5.5

XP_011539049.1

EC 1.6.5.5

XP_016855856.1

EC 1.6.5.5

XP_047302707.1

EC 1.6.5.5

XP_054190511.1

EC 1.6.5.5

XP_054190512.1

EC 1.6.5.5

XP_054190513.1

EC 1.6.5.5

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

NG_029880.1 RefSeqGene

Range

5359..32923

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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]
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]
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]
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

74705486..74733050 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A384P5L2
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

NC_060925.1 Alternate T2T-CHM13v2.0

Range

74547169..74574691 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334537.1 → XP_054190512.1 quinone oxidoreductase isoform X2

UniProtKB/TrEMBL

A0A384P5L2
XM_054334536.1 → XP_054190511.1 quinone oxidoreductase isoform X1

UniProtKB/TrEMBL

A0A384P5L2
XM_054334538.1 → XP_054190513.1 quinone oxidoreductase isoform X2

UniProtKB/TrEMBL

A0A384P5L2