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

    Gene ID: 51343, updated on 9-Dec-2024

    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, Dec 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
    NEW
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    Genomic context

    See FZR1 in Genome Data Viewer
    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_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3483217-3483755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9846 Neighboring gene small integral membrane protein 44 Neighboring gene MPRA-validated peak3248 silencer Neighboring gene uncharacterized LOC105372245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13735 Neighboring gene deoxyhypusine hydroxylase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516112-3516938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3516939-3517763 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3518044-3518846 Neighboring gene uncharacterized LOC124904617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:3520450-3521250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3539157-3540009 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3540539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3542983 Neighboring gene tektin bundle interacting protein 1 Neighboring gene major facilitator superfamily domain containing 12 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 19:3550926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9849 Neighboring gene Sharpr-MPRA regulatory region 8051 Neighboring gene uncharacterized LOC124904618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3571588-3572156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:3572157-3572724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9853 Neighboring gene high mobility group 20B

    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

    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
     
    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

    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)

    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)

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

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

    mRNA and Protein(s)

    1. XM_054321180.1XP_054177155.1  fizzy-related protein homolog isoform X4

      UniProtKB/Swiss-Prot
      O75869, Q86U66, Q96NW8, Q9UI96, Q9ULH8, Q9UM10, Q9UM11, Q9UNQ1, Q9Y2T8
    2. XM_054321177.1XP_054177152.1  fizzy-related protein homolog isoform X1

    3. XM_054321178.1XP_054177153.1  fizzy-related protein homolog isoform X2

    4. XM_054321179.1XP_054177154.1  fizzy-related protein homolog isoform X3