• Gene id: 51343

Gene Summary

• Gene Symbol: FZR1   Gene   UCSC   Ensembl
• Aliases: CDC20C, CDH1, FZR, FZR2, HCDH, HCDH1
• Gene name: fizzy and cell division cycle 20 related 1
• Alternate names: fizzy-related protein homolog, CDC20 homolog 1, CDC20-like 1b, CDC20-like protein 1, cdh1/Hct1 homolog, fizzy/cell division cycle 20 related 1,
• Gene location: 19p13.3 (3506262: 3538333)     Exons: 17     NC_000019.10
• OMIM: 603619

Protein Summary

• Protein general information: Q9UM11  
  • Name: Fizzy related protein homolog (Fzr) (CDC20 like protein 1) (Cdh1/Hct1 homolog) (hCDH1)
  • Length: 496  
  • Mass: 55179
  • 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. {ECO
• Sequence:

  MDQDYERRLLRQIVIQNENTMPRVTEMRRTLTPASSPVSSPSKHGDRFIPSRAGANWSVNFHRINENEKSPSQNR
  KAKDATSDNGKDGLAYSALLKNELLGAGIEKVQDPQTEDRRLQPSTPEKKGLFTYSLSTKRSSPDDGNDVSPYSL
  SPVSNKSQKLLRSPRKPTRKISKIPFKVLDAPELQDDFYLNLVDWSSLNVLSVGLGTCVYLWSACTSQVTRLCDL
  SVEGDSVTSVGWSERGNLVAVGTHKGFVQIWDAAAGKKLSMLEGHTARVGALAWNAEQLSSGSRDRMILQRDIRT
  PPLQSERRLQGHRQEVCGLKWSTDHQLLASGGNDNKLLVWNHSSLSPVQQYTEHLAAVKAIAWSPHQHGLLASGG
  GTADRCIRFWNTLTGQPLQCIDTGSQVCNLAWSKHANELVSTHGYSQNQILVWKYPSLTQVAKLTGHSYRVLYLA
  MSPDGEAIVTGAGDETLRFWNVFSKTRSTKVKWESVSVLNLFTRIR

• Structural information:
  • Interpro: IPR024977  IPR033010  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 4UI9 5L9T 5L9U
  • PDBsum: 4UI9 5L9T 5L9U
  • DIP: 38700
  • STRING: ENSP00000378529
• Other Databases: GeneCards:  FZR1  Malacards:  FZR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990757	ubiquitin ligase activator activity	IBA	molecular function
GO:1905786	positive regulation of anaphase-promoting complex-dependent catabolic process	IBA	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	IBA	biological process
GO:0010997	anaphase-promoting complex binding	IBA	molecular function
GO:1904668	positive regulation of ubiquitin protein ligase activity	IDA	biological process
GO:0072425	signal transduction involved in G2 DNA damage checkpoint	IDA	biological process
GO:0005680	anaphase-promoting complex	IDA	colocalizes with
GO:0031145	anaphase-promoting complex-dependent catabolic process	IDA	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	IDA	biological process
GO:0070979	protein K11-linked ubiquitination	TAS	biological process
GO:0045732	positive regulation of protein catabolic process	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010997	anaphase-promoting complex binding	IEA	molecular function
GO:0097027	ubiquitin-protein transferase activator activity	IEA	molecular function
GO:1904668	positive regulation of ubiquitin protein ligase activity	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0031145	anaphase-promoting complex-dependent catabolic process	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:1901990	regulation of mitotic cell cycle phase transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0040020	regulation of meiotic nuclear division	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0070306	lens fiber cell differentiation	IEA	biological process
GO:0090344	negative regulation of cell aging	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis
hsa04110	Cell cycle
hsa04914	Progesterone-mediated oocyte maturation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq