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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
Location & Maps
more
  • Sequence Map
    Chr18:74283090-74359986 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      76897 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    CFAP53, cilia and flagella associated protein 53
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CFAP53, cilia and flagella associated protein 53
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CCDC11, HTX6
  • Links
    NCBI Gene ID: 220136
    neXtProt AC: NX_Q96M91

  • Chr Location
    18q21.1; chr18:50227193-50266495 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human CFAP53 associations

Human Disease Mouse Models
       Heterotaxy, Visceral, 6, Autosomal; HTX6   OMIM: 614779
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotype references
  • All Mutations and Alleles
    6
  • Targeted
    5
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Cfap53
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000039801 VEGA Gene Model | MGI Sequence Detail 76897 C57BL/6J ±  kb
transcript OTTMUST00000103460 VEGA | MGI Sequence Detail 1888 Not Applicable  
polypeptide OTTMUSP00000057809 VEGA | MGI Sequence Detail 514 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    686 from dbSNP Build 137
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000031884 coiled-coil domain-containing protein 11
Molecular
Reagents
less
  • All nucleic 11
    cDNA 11

    Microarray probesets 2
References
more
  • Summaries
    All 25
    Gene Ontology 1
    Phenotypes 5
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory