Seroatlas · Human Serome Atlas

FZR1

Fizzy-related protein homolog

Also known as: CDC20C, CDH1, FZR, FZR1_HUMAN, FZR2, HCDH, HCDH1, KIAA1242

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9UM11
Gene
FZR1
Ensembl
ENSG00000105325
Chromosome
19
Canonical length
496 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear membrane

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

496 residues, UniProt reviewed canonical sequence.

>Q9UM11|FZR1
     1  MDQDYERRLL RQIVIQNENT MPRVTEMRRT LTPASSPVSS PSKHGDRFIP SRAGANWSVN
    61  FHRINENEKS PSQNRKAKDA TSDNGKDGLA YSALLKNELL GAGIEKVQDP QTEDRRLQPS
   121  TPEKKGLFTY SLSTKRSSPD DGNDVSPYSL SPVSNKSQKL LRSPRKPTRK ISKIPFKVLD
   181  APELQDDFYL NLVDWSSLNV LSVGLGTCVY LWSACTSQVT RLCDLSVEGD SVTSVGWSER
   241  GNLVAVGTHK GFVQIWDAAA GKKLSMLEGH TARVGALAWN AEQLSSGSRD RMILQRDIRT
   301  PPLQSERRLQ GHRQEVCGLK WSTDHQLLAS GGNDNKLLVW NHSSLSPVQQ YTEHLAAVKA
   361  IAWSPHQHGL LASGGGTADR CIRFWNTLTG QPLQCIDTGS QVCNLAWSKH ANELVSTHGY
   421  SQNQILVWKY PSLTQVAKLT GHSYRVLYLA MSPDGEAIVT GAGDETLRFW NVFSKTRSTK
   481  VKWESVSVLN LFTRIR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FZR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
49 nTPM

Expression across tissuesHPA

Tissue

  • testis: 49 nTPM
  • cerebellum: 41 nTPM
  • pituitary gland: 32 nTPM
  • bone marrow: 32 nTPM
  • adrenal gland: 25 nTPM
  • skin: 24 nTPM

Single-cell type

  • late spermatids: 308 nCPM
  • late primary spermatocytes: 145 nCPM
  • early spermatids: 94 nCPM
  • esophageal apical cells: 69 nCPM
  • syncytiotrophoblasts: 68 nCPM
  • tuft cells: 58 nCPM

Immune cell

  • eosinophil: 2 nTPM
  • neutrophil: 1.3 nTPM
  • NK-cell: 1.2 nTPM
  • basophil: 1.1 nTPM
  • gdT-cell: 1.1 nTPM
  • memory B-cell: 1 nTPM

Brain region

  • pons: 53 nTPM
  • medulla oblongata: 52 nTPM
  • cerebellum: 51 nTPM
  • midbrain: 49 nTPM
  • amygdala: 47 nTPM
  • hypothalamus: 47 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FZR1.

Disease | AllUniProt

Conditions FZR1 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 109 (DEE109) MIM:620145

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 82 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.17
gnomAD pLI
1
gnomAD missense Z
3.64
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FZR1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FZR1 as an antibody target. Whether an autoantibody or antibody against FZR1 could matter depends on whether native FZR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FZR1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FZR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FZR1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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