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Aliases for FZR1 Gene

Aliases for FZR1 Gene

  • Fizzy And Cell Division Cycle 20 Related 1 2 3 5
  • Fizzy/Cell Division Cycle 20 Related 1 2 3
  • CDC20-Like Protein 1 3 4
  • Cdh1/Hct1 Homolog 3 4
  • CDC20 Homolog 1 2 3
  • HCDH1 3 4
  • CDH1 3 4
  • FZR 3 4
  • Fizzy/Cell Division Cycle 20 Related 1 (Drosophila) 2
  • Fizzy-Related Protein Homolog 3
  • CDC20-Like 1b 3
  • KIAA1242 4
  • CDC20C 3
  • FZR2 3
  • HCDH 3
  • FYR 4

External Ids for FZR1 Gene

Previous GeneCards Identifiers for FZR1 Gene

  • GC19P003598
  • GC19P003446
  • GC19P003457
  • GC19P003473
  • GC19P003272

Summaries for FZR1 Gene

GeneCards Summary for FZR1 Gene

FZR1 (Fizzy And Cell Division Cycle 20 Related 1) is a Protein Coding gene. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Innate Immune System. An important paralog of this gene is CDC20.

UniProtKB/Swiss-Prot for FZR1 Gene

  • Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192).

Gene Wiki entry for FZR1 Gene

Additional gene information for FZR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FZR1 Gene

Genomics for FZR1 Gene

GeneHancer (GH) Regulatory Elements for FZR1 Gene

Promoters and enhancers for FZR1 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
GH19I003504 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.4 2381 7.8 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 FZR1 MFSD12 C19orf71 DOHH GC19M003522 ENSG00000252408
GH19I003522 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.4 +16.9 16927 0.1 POLR2A PIR59031 GC19M003522 ENSG00000252408 FZR1
GH19I003981 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.2 +478.5 478521 8.2 CLOCK FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MEF2D PIR48614 EEF2 ENSG00000267030 CACTIN CCDC94 ENSG00000267769 CACTIN-AS1 APBA3 ENSG00000267138 DPP9-AS1
GH19I003550 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +49.1 49058 8.7 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 MFSD12 CACTIN C19orf71 CCDC94 ZNF77 FZR1 GNA11 ENSG00000267030 CACTIN-AS1 TLE2
GH19I003357 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -145.8 -145837 5.5 HDGF SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 SP3 MXD4 ZNF592 NFIC CACTIN ZNF77 ZNF555 TLE2 GNA11 FZR1 CACTIN-AS1 CCDC94 MATK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FZR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FZR1 gene promoter:

Genomic Locations for FZR1 Gene

Genomic Locations for FZR1 Gene
chr19:3,506,065-3,538,539
(GRCh38/hg38)
Size:
32,475 bases
Orientation:
Plus strand
chr19:3,506,271-3,538,328
(GRCh37/hg19)

Genomic View for FZR1 Gene

Genes around FZR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FZR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FZR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FZR1 Gene

Proteins for FZR1 Gene

  • Protein details for FZR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM11-FZR1_HUMAN
    Recommended name:
    Fizzy-related protein homolog
    Protein Accession:
    Q9UM11
    Secondary Accessions:
    • O75869
    • Q86U66
    • Q96NW8
    • Q9UI96
    • Q9ULH8
    • Q9UM10
    • Q9UNQ1
    • Q9Y2T8

    Protein attributes for FZR1 Gene

    Size:
    496 amino acids
    Molecular mass:
    55179 Da
    Quaternary structure:
    • The unphosphorylated form interacts with APC/C during mitosis. Interacts with NINL. Interacts (in complex with the anaphase promoting complex APC) with MAD2L2; inhibits FZR1-mediated APC/C activation. Interacts with SIRT2 and USP37. Interacts (via WD repeats) with MAK. Interacts with RBBP8/CtIP; this interaction leads to RBBP8 proteasomal degradation (PubMed:25349192). Interacts with HECW2 (PubMed:24163370).
    SequenceCaution:
    • Sequence=AAD26623.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305}; Sequence=AAD26624.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=BAA86556.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FZR1 Gene

    Alternative splice isoforms for FZR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FZR1 Gene

Post-translational modifications for FZR1 Gene

  • Acetylated. Deacetylated by SIRT2 at Lys-69 and Lys-159; deacetylation enhances the interaction of FZR1 with CDC27, leading to activation of anaphase promoting complex/cyclosome (APC/C).
  • Phosphorylated during mitosis, probably by maturation promoting factor (MPF), leading to its dissociation of the APC/C. Following DNA damage, it is dephosphorylated by CDC14B in G2 phase, leading to its reassociation with the APC/C, and allowing an efficient G2 DNA damage checkpoint. Phosphorylated by MAK.
  • Ubiquitination at posLast=135135 and isoforms=2, 3263
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FZR1 Gene

Domains & Families for FZR1 Gene

Gene Families for FZR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FZR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UM11

UniProtKB/Swiss-Prot:

FZR1_HUMAN :
  • Belongs to the WD repeat CDC20/Fizzy family.
Family:
  • Belongs to the WD repeat CDC20/Fizzy family.
genes like me logo Genes that share domains with FZR1: view

Function for FZR1 Gene

Molecular function for FZR1 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192).

Phenotypes From GWAS Catalog for FZR1 Gene

Gene Ontology (GO) - Molecular Function for FZR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11459826
GO:0010997 anaphase-promoting complex binding IEA --
GO:0097027 ubiquitin-protein transferase activator activity IEA --
genes like me logo Genes that share ontologies with FZR1: view
genes like me logo Genes that share phenotypes with FZR1: view

Animal Models for FZR1 Gene

MGI Knock Outs for FZR1:

Animal Model Products

miRNA for FZR1 Gene

miRTarBase miRNAs that target FZR1

Clone Products

  • Addgene plasmids for FZR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FZR1 Gene

Localization for FZR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FZR1 Gene

Isoform 2: Nucleus.
Isoform 3: Cytoplasm.

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 FZR1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FZR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005680 colocalizes_with anaphase-promoting complex IDA 11459825
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with FZR1: view

Pathways & Interactions for FZR1 Gene

genes like me logo Genes that share pathways with FZR1: view

UniProtKB/Swiss-Prot Q9UM11-FZR1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for FZR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007049 cell cycle IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with FZR1: view

No data available for SIGNOR curated interactions for FZR1 Gene

Drugs & Compounds for FZR1 Gene

(1) Drugs for FZR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FZR1: view

Transcripts for FZR1 Gene

Unigene Clusters for FZR1 Gene

Fizzy/cell division cycle 20 related 1 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for FZR1

Alternative Splicing Database (ASD) splice patterns (SP) for FZR1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c ^ 14a · 14b · 14c
SP1: - - -
SP2: - -
SP3: - - - - -
SP4:
SP5:
SP6: -

Relevant External Links for FZR1 Gene

GeneLoc Exon Structure for
FZR1
ECgene alternative splicing isoforms for
FZR1

Expression for FZR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FZR1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FZR1 Gene



NURSA nuclear receptor signaling pathways regulating expression of FZR1 Gene:

FZR1

SOURCE GeneReport for Unigene cluster for FZR1 Gene:

Hs.413133

mRNA Expression by UniProt/SwissProt for FZR1 Gene:

Q9UM11-FZR1_HUMAN
Tissue specificity: Isoform 2 is expressed at high levels in heart, liver, spleen and some cancer cell lines whereas isoform 3 is expressed only at low levels in these tissues.

Evidence on tissue expression from TISSUES for FZR1 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with FZR1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FZR1 Gene

Orthologs for FZR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FZR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FZR1 34
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FZR1 34
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZR1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FZR1 33 34
  • 91.28 (n)
cow
(Bos Taurus)
Mammalia FZR1 33 34
  • 90.53 (n)
mouse
(Mus musculus)
Mammalia Fzr1 33 16 34
  • 88.03 (n)
rat
(Rattus norvegicus)
Mammalia Fzr1 33
  • 87.63 (n)
chicken
(Gallus gallus)
Aves CDH1-A 33 34
  • 83.37 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fzr1 33
  • 77.89 (n)
Str.20252 33
African clawed frog
(Xenopus laevis)
Amphibia fzr1-prov 33
zebrafish
(Danio rerio)
Actinopterygii fzr1 33 34
  • 75.81 (n)
zgc55450 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002114 33
  • 70.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta rap 35 33 34
  • 68.85 (n)
fzr2 35 34
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea fzr-1 33 34
  • 57.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL007C 33
  • 52.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDH1 33 34
  • 48.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08822g 33
  • 48.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FZR3 33
  • 55.45 (n)
soybean
(Glycine max)
eudicotyledons Gma.12561 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3232 33
rice
(Oryza sativa)
Liliopsida Os01g0972900 33
  • 57.03 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6041 33
wheat
(Triticum aestivum)
Liliopsida Ta.27562 33
corn
(Zea mays)
Liliopsida Zm.14057 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01269 33
  • 58.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes srw1 33
  • 50.16 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4550 33
Species where no ortholog for FZR1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for FZR1 Gene

ENSEMBL:
Gene Tree for FZR1 (if available)
TreeFam:
Gene Tree for FZR1 (if available)

Paralogs for FZR1 Gene

Paralogs for FZR1 Gene

(3) SIMAP similar genes for FZR1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with FZR1: view

Variants for FZR1 Gene

Sequence variations from dbSNP and Humsavar for FZR1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000014402 -- 3,529,254(+) GAG/GAGAG intron_variant
rs1000016625 -- 3,532,884(+) C/T intron_variant
rs1000104529 -- 3,524,876(+) C/T intron_variant
rs1000115939 -- 3,520,034(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000191762 -- 3,517,623(+) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FZR1 Gene

Variant ID Type Subtype PubMed ID
dgv613e199 CNV deletion 23128226
esv2663038 CNV deletion 23128226
esv2669455 CNV deletion 23128226
esv2675938 CNV deletion 23128226
esv26869 CNV loss 19812545
esv2717946 CNV deletion 23290073
esv2717947 CNV deletion 23290073
esv2717948 CNV deletion 23290073
esv3364166 CNV insertion 20981092
nsv470114 CNV loss 18288195
nsv953948 CNV deletion 24416366

Variation tolerance for FZR1 Gene

Residual Variation Intolerance Score: 8.61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FZR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FZR1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FZR1 Gene

Disorders for FZR1 Gene

Additional Disease Information for FZR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FZR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FZR1 Gene

Publications for FZR1 Gene

  1. Direct binding of CDC20 protein family members activates the anaphase-promoting complex in mitosis and G1. (PMID: 9734353) Fang G … Kirschner MW (Molecular cell 1998) 2 3 4 22 58
  2. Cell cycle-dependent expression of centrosomal ninein-like protein in human cells is regulated by the anaphase-promoting complex. (PMID: 17403670) Wang Y … Zhan Q (The Journal of biological chemistry 2007) 3 4 22 58
  3. MAD2B is an inhibitor of the anaphase-promoting complex. (PMID: 11459826) Chen J … Fang G (Genes & development 2001) 3 4 22 58
  4. Activation of the human anaphase-promoting complex by proteins of the CDC20/Fizzy family. (PMID: 9811605) Kramer ER … Peters JM (Current biology : CB 1998) 3 4 22 58
  5. APC/C(Cdh1) controls CtIP stability during the cell cycle and in response to DNA damage. (PMID: 25349192) Lafranchi L … van Vugt MA (The EMBO journal 2014) 3 4 58

Products for FZR1 Gene

  • Addgene plasmids for FZR1

Sources for FZR1 Gene

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