FZR1 fizzy and cell division cycle 20 related 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FZR1provided by HGNC
Official Full Name: fizzy and cell division cycle 20 related 1provided by HGNC
Primary source: HGNC:HGNC:24824
See related: Ensembl:ENSG00000105325 MIM:603619; AllianceGenome:HGNC:24824
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FZR; CDH1; FZR2; HCDH; HCDH1; CDC20C; DEE109
Summary: Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Nov 2024]
Annotation information: Note: CDH1 (GeneID 999) and FZR1 (GeneID 51343) share the CDH1 symbol. CDH1 is sometimes used as an abbreviation for 'CDC20 homolog 1' which is an alternate name for the FZR1 gene and thus can be confused with the official symbol for cadherin 1 (CDH1). [16 Jul 2018]
Expression: Ubiquitous expression in testis (RPKM 11.7), bone marrow (RPKM 10.3) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (3506311..3538334)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (3484482..3516505)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (3506309..3538332)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Target Identification and Mechanistic Characterization of Indole Terpenoid Mimics: Proper Spindle Microtubule Assembly Is Essential for Cdh1-Mediated Proteolysis of CENP-A.
Title: Target Identification and Mechanistic Characterization of Indole Terpenoid Mimics: Proper Spindle Microtubule Assembly Is Essential for Cdh1-Mediated Proteolysis of CENP-A.
N 6-methyladenosine Modification of FZR1 mRNA Promotes Gemcitabine Resistance in Pancreatic Cancer.
Title: N 6-methyladenosine Modification of FZR1 mRNA Promotes Gemcitabine Resistance in Pancreatic Cancer.
The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity.
Title: The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity.
The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells.
Title: The UBE2C/CDH1/DEPTOR axis is an oncogene and tumor suppressor cascade in lung cancer cells.
APC/C CDH1 ubiquitinates STAT3 in mitosis.
Title: APC/C CDH1 ubiquitinates STAT3 in mitosis.
The anaphase-promoting complex/cyclosome co-activator, Cdh1, is a novel target of human papillomavirus 16 E7 oncoprotein in cervical oncogenesis.
Title: The anaphase-promoting complex/cyclosome co-activator, Cdh1, is a novel target of human papillomavirus 16 E7 oncoprotein in cervical oncogenesis.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Title: De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Insufficiency of FZR1 disturbs HSC quiescence by inhibiting ubiquitin-dependent degradation of RUNX1 in aplastic anemia.
Title: Insufficiency of FZR1 disturbs HSC quiescence by inhibiting ubiquitin-dependent degradation of RUNX1 in aplastic anemia.
RNA methyltransferase NSUN2 promotes growth of hepatocellular carcinoma cells by regulating fizzy-related-1 in vitro and in vivo.
Title: RNA methyltransferase NSUN2 promotes growth of hepatocellular carcinoma cells by regulating fizzy-related-1 in vitro and in vivo.
APC/C ubiquitin ligase: Functions and mechanisms in tumorigenesis.
Title: APC/C ubiquitin ligase: Functions and mechanisms in tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy 109 MedGen: C5774263 OMIM: 620145 GeneReviews: Not available	not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables anaphase-promoting complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin ligase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like ligase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in anaphase-promoting complex-dependent catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in anaphase-promoting complex-dependent catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in anaphase-promoting complex-dependent catabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in lens fiber cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitotic G2 DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cellular senescence	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of anaphase-promoting complex-dependent catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K11-linked ubiquitination	TAS Traceable Author Statement more info	PubMed
involved_in regulation of meiotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of anaphase-promoting complex	IBA Inferred from Biological aspect of Ancestor more info
part_of anaphase-promoting complex	NAS Non-traceable Author Statement more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: fizzy-related protein homolog

Names: CDC20 homolog 1; CDC20-like 1b; CDC20-like protein 1; cdh1/Hct1 homolog; fizzy/cell division cycle 20 related 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

mRNA and Protein(s)

NM_001136197.1 → NP_001129669.1 fizzy-related protein homolog isoform 3

See identical proteins and their annotated locations for NP_001129669.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) skips multiple exons in the central coding region and lacks a short in-frame segment in the 3' coding region compared to variant 1. The encoded protein (isoform 3) lacks a WD40 repeat and has a shorter C-terminus compared to isoform 1. This isoform is also known as isoform beta.

Source sequence(s)

AB033068, AF083810, AF433157, BC013413

Consensus CDS

CCDS45917.1

UniProtKB/Swiss-Prot

Q9UM11

Related

ENSP00000321800.7, ENST00000313639.8

Conserved Domains (2) summary

cd00200
Location:127 → 382

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:143 → 180

7WD40; WD40 repeat [structural motif]
NM_001136198.1 → NP_001129670.1 fizzy-related protein homolog isoform 1

See identical proteins and their annotated locations for NP_001129670.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform.

Source sequence(s)

AB013462, AB033068, AF083810, BC013413

Consensus CDS

CCDS45916.1

UniProtKB/Swiss-Prot

O75869, Q86U66, Q96NW8, Q9UI96, Q9ULH8, Q9UM10, Q9UM11, Q9UNQ1, Q9Y2T8

Related

ENSP00000378529.2, ENST00000395095.7

Conserved Domains (2) summary

cd00200
Location:193 → 471

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:232 → 269

7WD40; WD40 repeat [structural motif]
NM_016263.4 → NP_057347.2 fizzy-related protein homolog isoform 2

See identical proteins and their annotated locations for NP_057347.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks a short in-frame segment in the 3' coding region compared to variant 1. The encoded protein (isoform 2) has a shorter C-terminus compared to isoform 1. This isoform is also known as isoform alpha.

Source sequence(s)

AC005787, AF083810, BC013413, BC111760, DB462260

Consensus CDS

CCDS12109.1

UniProtKB/Swiss-Prot

Q9UM11

Related

ENSP00000410369.1, ENST00000441788.7

Conserved Domains (2) summary

cd00200
Location:193 → 471

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:232 → 269

7WD40; WD40 repeat [structural motif]

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

3506311..3538334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259573.6 → XP_005259630.1 fizzy-related protein homolog isoform X4

See identical proteins and their annotated locations for XP_005259630.1

UniProtKB/Swiss-Prot

O75869, Q86U66, Q96NW8, Q9UI96, Q9ULH8, Q9UM10, Q9UM11, Q9UNQ1, Q9Y2T8

Conserved Domains (2) summary

cd00200
Location:193 → 471

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

sd00039
Location:232 → 269

7WD40; WD40 repeat [structural motif]
XM_017026863.3 → XP_016882352.1 fizzy-related protein homolog isoform X1
XM_047438908.1 → XP_047294864.1 fizzy-related protein homolog isoform X2
XM_047438909.1 → XP_047294865.1 fizzy-related protein homolog isoform X3