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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 PLK1 signaling events 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

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

Regulatory Elements for FZR1 Gene

Enhancers for FZR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G003150 2 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -352.7 -352677 6.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT SIN3A YBX1 ZNF766 FOS DEK ZNF77 CACTIN GNA15 ZNF555 ENSG00000267138 NCLN FZR1 ENSG00000267205 GNA11 AES
GH19G004367 2 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +868.8 868756 14.8 CREB3L1 MLX AGO1 DMAP1 ZNF143 ZNF263 NFYC TBX21 MEF2D SSRP1 ENSG00000267769 SEMA6B CHAF1A SH3GL1 UBXN6 CACTIN ENSG00000267030 FSD1 TMIGD2 ENSG00000267980
GH19G003550 1.8 FANTOM5 ENCODE dbSUPER 12.6 +49.1 49059 8.7 HDGF PKNOX1 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 MFSD12 C19orf71 FZR1 GNA15 LOC101928631 GC19M003551 ENSG00000267231
GH19G003605 1.4 ENCODE dbSUPER 10.5 +101.5 101539 4.6 HDGF PKNOX1 CREB3L1 ARNT SIN3A YBX1 ZNF2 ZNF766 ZNF207 SP3 CACTIN ZNF77 ENSG00000267030 CACTIN-AS1 ZNF555 ENSG00000267769 ENSG00000267205 ZNF554 ENSG00000267138 APBA3
GH19G004227 1.3 Ensembl ENCODE 10.4 +723.4 723381 4.2 HDGF PKNOX1 YBX1 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 ZNF207 ZNF202 CACTIN CACTIN-AS1 ENSG00000267030 CCDC94 ENSG00000267138 ENSG00000267769 ENSG00000267205 FZR1 MATK GC19M004230
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FZR1 on UCSC Golden Path with GeneCards custom track

Promoters for FZR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106060 435 2201 HDGF PKNOX1 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for FZR1 Gene

Chromosome:
19
Start:
3,506,065 bp from pter
End:
3,538,539 bp from pter
Size:
32,475 bases
Orientation:
Plus strand

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 Lys135 and Lys263
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FZR1 Gene

Domains & Families for FZR1 Gene

Gene Families for FZR1 Gene

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).

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FZR1
  • Applied Biological Materials Clones 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

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:0007067 mitotic nuclear division IEA --
GO:0008284 positive regulation of cell proliferation 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for FZR1
  • Applied Biological Materials Clones 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

Primer Products

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 35
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FZR1 35
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FZR1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FZR1 34 35
  • 91.28 (n)
cow
(Bos Taurus)
Mammalia FZR1 34 35
  • 90.53 (n)
mouse
(Mus musculus)
Mammalia Fzr1 34 16 35
  • 88.03 (n)
rat
(Rattus norvegicus)
Mammalia Fzr1 34
  • 87.63 (n)
chicken
(Gallus gallus)
Aves CDH1-A 34 35
  • 83.37 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia fzr1 34
  • 77.89 (n)
Str.20252 34
African clawed frog
(Xenopus laevis)
Amphibia fzr1-prov 34
zebrafish
(Danio rerio)
Actinopterygii fzr1 34 35
  • 75.81 (n)
zgc55450 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002114 34
  • 70.21 (n)
fruit fly
(Drosophila melanogaster)
Insecta rap 36 34 35
  • 68.85 (n)
fzr2 36 35
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea fzr-1 34 35
  • 57.43 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL007C 34
  • 52.3 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDH1 34 35
  • 48.84 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A08822g 34
  • 48.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons FZR3 34
  • 55.45 (n)
soybean
(Glycine max)
eudicotyledons Gma.12561 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3232 34
rice
(Oryza sativa)
Liliopsida Os01g0972900 34
  • 57.03 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6041 34
wheat
(Triticum aestivum)
Liliopsida Ta.27562 34
corn
(Zea mays)
Liliopsida Zm.14057 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01269 34
  • 58.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes srw1 34
  • 50.16 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4550 34
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 Sequence Context AA Info Type
rs1000014402 -- 3,529,253(+) TGAGG(-/GA)GAGTG intron-variant
rs1000016625 -- 3,532,884(+) CCACA(C/T)CTGGC intron-variant
rs1000104529 -- 3,524,876(+) GGGCT(C/T)ACCCT intron-variant
rs1000115939 -- 3,520,034(+) CCCCA(A/C)ACCCA intron-variant
rs1000191762 -- 3,517,623(+) GCAGA(C/G)GTTGC intron-variant, upstream-variant-2KB

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)

Relevant External Links for FZR1 Gene

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

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

Disorders for FZR1 Gene

Relevant External Links for FZR1

Genetic Association Database (GAD)
FZR1
Human Genome Epidemiology (HuGE) Navigator
FZR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FZR1

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 M.W. (Mol. Cell 1998) 2 3 4 22 64
  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. (J. Biol. Chem. 2007) 3 4 22 64
  3. MAD2B is an inhibitor of the anaphase-promoting complex. (PMID: 11459826) Chen J. … Fang G. (Genes Dev. 2001) 3 4 22 64
  4. Activation of the human anaphase-promoting complex by proteins of the CDC20/Fizzy family. (PMID: 9811605) Kramer E.R. … Peters J.-M. (Curr. Biol. 1998) 3 4 22 64
  5. APC/C(Cdh1) controls CtIP stability during the cell cycle and in response to DNA damage. (PMID: 25349192) Lafranchi L. … van Vugt M.A. (EMBO J. 2014) 3 4 64

Products for FZR1 Gene

  • Addgene plasmids for FZR1

Sources for FZR1 Gene

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