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Aliases for CRYZL1 Gene

Aliases for CRYZL1 Gene

  • Crystallin Zeta Like 1 2 3 5
  • Crystallin, Zeta (Quinone Reductase)-Like 1 2 3
  • Quinone Oxidoreductase Homolog 1 3 4
  • Quinone Reductase-Like 1 2 3
  • Zeta-Crystallin Homolog 3 4
  • Protein 4P11 3 4
  • QOH-1 3 4
  • 4P11 3 4
  • Quinone Oxidoreductase-Like Protein 1 3
  • EC 1.-.-.- 4

External Ids for CRYZL1 Gene

Previous GeneCards Identifiers for CRYZL1 Gene

  • GC21M031527
  • GC21M031609
  • GC21M033871
  • GC21M033872
  • GC21M033882
  • GC21M034961
  • GC21M020440

Summaries for CRYZL1 Gene

Entrez Gene Summary for CRYZL1 Gene

  • This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYZL1 Gene

CRYZL1 (Crystallin Zeta Like 1) is a Protein Coding gene. Diseases associated with CRYZL1 include Opitz-Kaveggia Syndrome and Norrie Disease. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and NADP binding.

Gene Wiki entry for CRYZL1 Gene

Additional gene information for CRYZL1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYZL1 Gene

Genomics for CRYZL1 Gene

GeneHancer (GH) Regulatory Elements for CRYZL1 Gene

Promoters and enhancers for CRYZL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J033640 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 661.8 +0.8 779 5 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 POLR2B CRYZL1 ITSN1 TMEM50B PAXBP1 DONSON FAM243A GART SON SMIM34A GC21P033513
GH21J033323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 +318.8 318846 2.6 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 PPARGC1A MEF2D IFNAR1 PAXBP1 TMEM50B SON GART EVA1C LINC01548 ENSG00000226433 OR7E23P ENSG00000238220
GH21J033682 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 -40.9 -40859 4.7 PKNOX1 FOXA2 ARID4B SIN3A BRCA1 FOS RXRA REST SMARCA4 GLIS1 ITSN1 TMEM50B PAXBP1 SON CRYZL1 DONSON GC21P033513 GC21P033897 ENSG00000249209
GH21J033478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 +164.3 164265 2.8 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B TMEM50B PAXBP1 DONSON SON CFAP298 GART FAM243A CRYZL1 EXOSC3P1 IFNGR2
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +872.6 872573 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 SON TMEM50B DONSON CFAP298 MIS18A EVA1C URB1 GART
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRYZL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYZL1 gene promoter:

Genomic Locations for CRYZL1 Gene

Genomic Locations for CRYZL1 Gene
chr21:33,589,341-33,643,926
(GRCh38/hg38)
Size:
54,586 bases
Orientation:
Minus strand
chr21:34,961,647-35,016,232
(GRCh37/hg19)

Genomic View for CRYZL1 Gene

Genes around CRYZL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYZL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYZL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYZL1 Gene

Proteins for CRYZL1 Gene

  • Protein details for CRYZL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95825-QORL1_HUMAN
    Recommended name:
    Quinone oxidoreductase-like protein 1
    Protein Accession:
    O95825
    Secondary Accessions:
    • B2RDX1
    • B3KQ77
    • Q96DY0
    • Q9NVY7

    Protein attributes for CRYZL1 Gene

    Size:
    349 amino acids
    Molecular mass:
    38697 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH13155.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305}; Sequence=BAA91605.1; Type=Frameshift; Positions=302; Evidence={ECO:0000305};

    Alternative splice isoforms for CRYZL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CRYZL1 Gene

Post-translational modifications for CRYZL1 Gene

  • Ubiquitination at Lys182
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CRYZL1 Gene

Domains & Families for CRYZL1 Gene

Gene Families for CRYZL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CRYZL1 Gene

Graphical View of Domain Structure for InterPro Entry

O95825

UniProtKB/Swiss-Prot:

QORL1_HUMAN :
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Family:
  • Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
genes like me logo Genes that share domains with CRYZL1: view

Function for CRYZL1 Gene

Molecular function for CRYZL1 Gene

GENATLAS Biochemistry:
cristallin zeta (quinone reductase)-like 1,expressed in heart,brain,skeletal muscle

Enzyme Numbers (IUBMB) for CRYZL1 Gene

Phenotypes From GWAS Catalog for CRYZL1 Gene

Gene Ontology (GO) - Molecular Function for CRYZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003960 NADPH:quinone reductase activity NAS 10191096
GO:0016491 oxidoreductase activity IEA --
GO:0050661 NADP binding NAS 10191096
genes like me logo Genes that share ontologies with CRYZL1: view
genes like me logo Genes that share phenotypes with CRYZL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CRYZL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYZL1

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CRYZL1 Gene

Localization for CRYZL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYZL1 gene
Compartment Confidence
cytosol 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CRYZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol HDA 16780588
genes like me logo Genes that share ontologies with CRYZL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CRYZL1 Gene

Pathways & Interactions for CRYZL1 Gene

SuperPathways for CRYZL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYZL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
GO:1901661 quinone metabolic process NAS 10191096
genes like me logo Genes that share ontologies with CRYZL1: view

No data available for Pathways by source and SIGNOR curated interactions for CRYZL1 Gene

Drugs & Compounds for CRYZL1 Gene

No Compound Related Data Available

Transcripts for CRYZL1 Gene

mRNA/cDNA for CRYZL1 Gene

Unigene Clusters for CRYZL1 Gene

Crystallin, zeta (quinone reductase)-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYZL1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYZL1 Gene

No ASD Table

Relevant External Links for CRYZL1 Gene

GeneLoc Exon Structure for
CRYZL1
ECgene alternative splicing isoforms for
CRYZL1

Expression for CRYZL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRYZL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CRYZL1 Gene

This gene is overexpressed in Testis (8.2) and Peripheral blood mononuclear cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRYZL1 Gene



Protein tissue co-expression partners for CRYZL1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CRYZL1 Gene:

CRYZL1

SOURCE GeneReport for Unigene cluster for CRYZL1 Gene:

Hs.352671

mRNA Expression by UniProt/SwissProt for CRYZL1 Gene:

O95825-QORL1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for CRYZL1 Gene

  • Nervous system(4.6)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with CRYZL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYZL1 Gene

Orthologs for CRYZL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYZL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYZL1 34 33
  • 99.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
CRYZL1 33
  • 92.74 (n)
cow
(Bos Taurus)
Mammalia CRYZL1 34 33
  • 91.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cryzl1 16 34 33
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Cryzl1 33
  • 88.22 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYZL1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYZL1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYZL1 34 33
  • 78.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 73 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cryzl1 33
  • 69.85 (n)
Str.20074 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24377 33
zebrafish
(Danio rerio)
Actinopterygii cryzl1 34 33
  • 60.95 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for CRYZL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYZL1 Gene

ENSEMBL:
Gene Tree for CRYZL1 (if available)
TreeFam:
Gene Tree for CRYZL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRYZL1: view image

Paralogs for CRYZL1 Gene

(1) SIMAP similar genes for CRYZL1 Gene using alignment to 18 proteins:

  • QORL1_HUMAN
  • A6NHJ8_HUMAN
  • A6NMA8_HUMAN
  • A6NND8_HUMAN
  • A8MZ10_HUMAN
  • B3KQ77_HUMAN
  • C9JAL0_HUMAN
  • C9JNR9_HUMAN
  • C9JQD0_HUMAN
  • C9JZK8_HUMAN
  • C9K0F7_HUMAN
  • F8WF64_HUMAN
  • H7C0X3_HUMAN
  • H7C2K1_HUMAN
  • H7C338_HUMAN
  • H7C3I5_HUMAN
  • H7C3S0_HUMAN
  • Q8TBV9_HUMAN
genes like me logo Genes that share paralogs with CRYZL1: view

No data available for Paralogs for CRYZL1 Gene

Variants for CRYZL1 Gene

Sequence variations from dbSNP and Humsavar for CRYZL1 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000043894 -- 33,624,271(-) G/T intron_variant
rs1000082170 -- 33,596,660(-) ATAAAA/ATAAAAATATAAAA intron_variant
rs1000109091 -- 33,616,758(-) G/T intron_variant
rs1000130429 -- 33,594,638(-) C/T intron_variant
rs1000147093 -- 33,633,320(-) A/T intron_variant

Variation tolerance for CRYZL1 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYZL1 Gene

Human Gene Mutation Database (HGMD)
CRYZL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYZL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CRYZL1 Gene

Disorders for CRYZL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CRYZL1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
opitz-kaveggia syndrome
  • oks
norrie disease
  • nd
retinitis pigmentosa 3
  • rp3
exudative vitreoretinopathy
  • exudative vitreoretinopathy 1
congenital stationary night blindness
  • congenital essential nyctalopia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CRYZL1

genes like me logo Genes that share disorders with CRYZL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CRYZL1 Gene

Publications for CRYZL1 Gene

  1. Identification of a zeta-crystallin (quinone reductase)-like 1 gene (CRYZL1) mapped to human chromosome 21q22.1. (PMID: 10191096) Kim MY … Soh J (Genomics 1999) 2 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CRYZL1 Gene

Sources for CRYZL1 Gene

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