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Cfap54 Gene Detail
Summary
  • Symbol
    Cfap54
  • Name
    cilia and flagella associated protein 54
  • Synonyms
    4930485B16Rik, Gm872, LOC380653
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922208
    NCBI Gene: 380654
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr10:92775619-93081618 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      306000 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 47.44 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    CFAP54, cilia and flagella associated protein 54
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CFAP54, cilia and flagella associated protein 54
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C12orf55, C12orf63
  • Links
    NCBI Gene ID: 144535
    neXtProt AC: NX_Q96N23
    UniProt: Q96N23

  • Chr Location
    12q23.1; chr12:96489566-96875555 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    22 phenotypes from 1 allele in 3 genetic backgrounds
    11 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 inactivation of this gene causes background-dependent lethality and hydroencephaly, male sterility associated with defects in spermiogenesis, and impaired mucociliary clearance. Airway epithelial cilia show structural defects and a decrease in ciliary beat frequency and cilia-driven flow.
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
  • All Sequences
  • RefSeq
  • UniProt
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036731 VEGA Gene Model | MGI Sequence Detail 306000 C57BL/6J ±  kb
transcript OTTMUST00000150881 VEGA | MGI Sequence Detail 9516 Not Applicable  
polypeptide OTTMUSP00000078247 VEGA | MGI Sequence Detail 3171 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    2683 from dbSNP Build 142
Protein
Information
less
  • UniProt
    10 Sequences
  • InterPro Domains
    IPR027912 Cilia- and flagella-associated protein 54
    IPR011990 Tetratricopeptide-like helical domain superfamily
Molecular
Reagents
less
  • All nucleic 6
    cDNA 6

    Microarray probesets 2
Other
Accession IDs
less
MGI:2685718
References
more
  • Summaries
    All 28
    Gene Ontology 2
    Phenotypes 11
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:228444 McKenzie CW, et al., CFAP54 is required for proper ciliary motility and assembly of the central pair apparatus in mice. Mol Biol Cell. 2015 Sep 15;26(18):3140-9

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
12/05/2017
MGI 6.11
The Jackson Laboratory