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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
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:92775619-93081618 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 47.44 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2683 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922208
protein coding gene Chr10:92775612-93083589 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017647
protein coding gene Chr10:94147262-94456198 (-)
A/J MGP_AJ_G0017626
protein coding gene Chr10:90890425-91181001 (-)
AKR/J MGP_AKRJ_G0017584
protein coding gene Chr10:93477398-93781134 (-)
BALB/cJ MGP_BALBcJ_G0017589
protein coding gene Chr10:91156674-91452022 (-)
C3H/HeJ MGP_C3HHeJ_G0017412
protein coding gene Chr10:93487874-93793826 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018046
protein coding gene Chr10:97239215-97559027 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015728
protein coding gene Chr10:86525628-86810003 (-)
CAST/EiJ MGP_CASTEiJ_G0016977
protein coding gene Chr10:93443957-93746083 (-)
CBA/J MGP_CBAJ_G0017381
protein coding gene Chr10:101274894-101612062 (-)
DBA/2J MGP_DBA2J_G0017487
protein coding gene Chr10:89984217-90287371 (-)
FVB/NJ MGP_FVBNJ_G0017479
protein coding gene Chr10:89211324-89500913 (-)
LP/J MGP_LPJ_G0017561
protein coding gene Chr10:94766747-95077141 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017510
protein coding gene Chr10:102641285-102964031 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018083
protein coding gene Chr10:93385379-93679668 (-)
PWK/PhJ MGP_PWKPhJ_G0016758
protein coding gene Chr10:90059527-90359701 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016546
protein coding gene Chr10:92174268-92480397 (-)
WSB/EiJ MGP_WSBEiJ_G0017036
protein coding gene Chr10:93343640-93656565 (-)



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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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  • All Sequences
  • RefSeq
  • UniProt
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000020014 Ensembl Gene Model | MGI Sequence Detail 306000 C57BL/6J ±  kb
transcript ENSMUST00000212902 Ensembl | MGI Sequence Detail 9516 Not Applicable  
polypeptide ENSMUSP00000148636 Ensembl | MGI Sequence Detail 3171 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    10 Sequences
  • InterPro Domains
    IPR027912 Cilia- and flagella-associated protein 54
Molecular
Reagents
less
  • All nucleic 8
    cDNA 8

    Microarray probesets 2
Other
Accession IDs
less
MGI:2685718
References
more
  • Summaries
    All 30
    Gene Ontology 4
    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
11/06/2018
MGI 6.13
The Jackson Laboratory