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

Gene ID: 51343, updated on 6-Sep-2022

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
Summary
Predicted to enable anaphase-promoting complex binding activity and ubiquitin ligase activator activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of protein metabolic process. Located in nuclear membrane and nucleoplasm. Colocalizes with anaphase-promoting complex. [provided by Alliance of Genome Resources, Apr 2022]
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
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Genomic context

See FZR1 in Genome Data Viewer
Location:
19p13.3
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (3506311..3538334)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (3484482..3516505)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3506309..3538332)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372246 Neighboring gene small integral membrane protein 44 Neighboring gene uncharacterized LOC105372245 Neighboring gene deoxyhypusine hydroxylase Neighboring gene uncharacterized LOC124904617 Neighboring gene tektin bundle interacting protein 1 Neighboring gene major facilitator superfamily domain containing 12 Neighboring gene Sharpr-MPRA regulatory region 8051

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • KIAA1242

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables anaphase-promoting complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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
PubMed 
involved_in anaphase-promoting complex-dependent catabolic process IC
Inferred by Curator
more info
PubMed 
involved_in anaphase-promoting complex-dependent catabolic process IDA
Inferred from Direct Assay
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
PubMed 
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 IC
Inferred by Curator
more info
PubMed 
involved_in regulation of meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of mitotic cell cycle IC
Inferred by Curator
more info
PubMed 
Component Evidence Code Pubs
part_of anaphase-promoting complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of anaphase-promoting complex IC
Inferred by Curator
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
 

General protein information

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)

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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)

  1. NM_001136197.1NP_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:127382
    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:143180
    7WD40; WD40 repeat [structural motif]
  2. NM_001136198.1NP_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
    Q9UM11, Q9Y2T8
    Related
    ENSP00000378529.2, ENST00000395095.7
    Conserved Domains (2) summary
    cd00200
    Location:193471
    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:232269
    7WD40; WD40 repeat [structural motif]
  3. NM_016263.4NP_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:193471
    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:232269
    7WD40; WD40 repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    3506311..3538334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_005259630.1

    UniProtKB/Swiss-Prot
    Q9UM11, Q9Y2T8
    Conserved Domains (2) summary
    cd00200
    Location:193471
    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:232269
    7WD40; WD40 repeat [structural motif]
  2. XM_017026863.3XP_016882352.1  fizzy-related protein homolog isoform X1

  3. XM_047438908.1XP_047294864.1  fizzy-related protein homolog isoform X2

  4. XM_047438909.1XP_047294865.1  fizzy-related protein homolog isoform X3

RNA

  1. XR_001753699.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    3484482..3516505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)