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

Gene ID: 51343, updated on 11-Sep-2019

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
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
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

Genomic context

See FZR1 in Genome Data Viewer
Location:
19p13.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (3506263..3538334)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (3506261..3536755)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372246 Neighboring gene uncharacterized LOC105372245 Neighboring gene deoxyhypusine hydroxylase Neighboring gene chromosome 19 open reading frame 71 Neighboring gene major facilitator superfamily domain containing 12 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 BioSystems

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
anaphase-promoting complex binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
anaphase-promoting complex-dependent catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
anaphase-promoting complex-dependent catabolic process TAS
Traceable Author Statement
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell aging IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein K11-linked ubiquitination TAS
Traceable Author Statement
more info
PubMed 
regulation of meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle phase transition TAS
Traceable Author Statement
more info
 
signal transduction involved in G2 DNA damage checkpoint IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-dependent protein catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
colocalizes_with anaphase-promoting complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
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)

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
    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, ENST00000441788.6
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    3506263..3538334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259573.5XP_005259630.1  fizzy-related protein homolog isoform X2

    See identical proteins and their annotated locations for XP_005259630.1

    UniProtKB/Swiss-Prot
    Q9UM11
    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_017026863.2XP_016882352.1  fizzy-related protein homolog isoform X1

RNA

  1. XR_001753699.1 RNA Sequence

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