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Cfap53 Gene Detail
Summary
  • Symbol
    Cfap53
  • Name
    cilia and flagella associated protein 53
  • Synonyms
    4933415I03Rik, Ccdc11
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921703
    NCBI Gene: 74453
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:74416171-74493055 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 50.70 cM, cytoband E2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    666 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921703
 protein coding gene Chr18:74416161-74493057 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024557
 protein coding gene Chr18:74901442-74982542 (+)
A/J MGP_AJ_G0024524
 protein coding gene Chr18:71642136-71723310 (+)
AKR/J MGP_AKRJ_G0024495
 protein coding gene Chr18:73759138-73835658 (+)
BALB/cJ MGP_BALBcJ_G0024524
 protein coding gene Chr18:71822373-71908075 (+)
C3H/HeJ MGP_C3HHeJ_G0024292
 protein coding gene Chr18:73852757-73944090 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024970
 protein coding gene Chr18:76868978-76949141 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022400
 protein coding gene Chr18:70717551-70800994 (+)
CAST/EiJ MGP_CASTEiJ_G0023765
 protein coding gene Chr18:74027935-74111559 (+)
CBA/J MGP_CBAJ_G0024261
 protein coding gene Chr18:79494471-79585461 (+)
DBA/2J MGP_DBA2J_G0024391
 protein coding gene Chr18:71245084-71325379 (+)
FVB/NJ MGP_FVBNJ_G0024357
 protein coding gene Chr18:70584669-70662170 (+)
LP/J MGP_LPJ_G0024475
 protein coding gene Chr18:74769719-74866669 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024387
 protein coding gene Chr18:80950352-81050115 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025018
 protein coding gene Chr18:73892801-73982148 (+)
PWK/PhJ MGP_PWKPhJ_G0023509
 protein coding gene Chr18:71598957-71687685 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023313
 protein coding gene Chr18:74044628-74121402 (+)
WSB/EiJ MGP_WSBEiJ_G0023828
 protein coding gene Chr18:73845063-73927811 (+)



Homology
more
  • Human Ortholog
    CFAP53, cilia and flagella associated protein 53
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFAP53, cilia and flagella associated protein 53
  • Synonyms
    CCDC11, HTX6
  • Links
    NCBI Gene ID: 220136
    neXtProt AC: NX_Q96M91
    UniProt: Q96M91

  • Chr Location
    18q21.1; chr18:50227193-50266495 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CFAP53 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    60 phenotypes from 2 alleles in 2 genetic backgrounds
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous knock-out affects node cilia and results in abnormal placental labyrinth vasculature morphology, placental hemorrhage and necrosis, and partial preweaning lethality. Mice homozygous for a different null allele exhibit impaired survival, situs inversus, hydrocephaly, and male infertility with oligozoospermia and abnormal head and flagellum morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    12
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 74453 NCBI Gene Model | MGI Sequence Detail 76885 C57BL/6J ±  kb
    transcript NR_029424 RefSeq | MGI Sequence Detail 2108 C57BL/6  
    polypeptide Q9D439 UniProt | EBI | MGI Sequence Detail 514 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 12

      Microarray probesets 2
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 13
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:343289 Ho KH, et al., Choroid plexuses carry nodal-like cilia that undergo axoneme regression from early adult stage. Dev Cell. 2023 Dec 4;58(23):2641-2651.e6
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory