ENSMUSG00000020014


Mus musculus
ciliumCfap54cellmotilebrainspermproteinprojectionaxonemerespiratoryphysiologyependymatetratricopeptide-likehelicaldomainsuperfamilycilia-flagella-associatedspermatogenesisorganizationdifferentiationassemblymovementinvolvedmotilitycellularcomponentcytoplasmcytoskeletonmolecularfunction

Features
Gene ID: ENSMUSG00000020014
  
Biological name :Cfap54
  
Synonyms : Cfap54 / Mus musculus cilia and flagella associated protein 54 (Cfap54), mRNA. / Q8C6S9
  
Possible biological names infered from orthology : cilia and flagella associated protein 54 / Q96N23
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: C2
Gene start: 92775619
Gene end: 93081618
  
Corresponding Affymetrix probe sets: 10371916 (MoGene1.0st)   10371942 (MoGene1.0st)   1440502_at (Mouse Genome 430 2.0 Array)   1444517_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000129650
Ensembl peptide - ENSMUSP00000129517
Ensembl peptide - ENSMUSP00000148636
Ensembl peptide - ENSMUSP00000151550
Ensembl peptide - ENSMUSP00000150412
Ensembl peptide - ENSMUSP00000020200
Ensembl peptide - ENSMUSP00000126955
Ensembl peptide - ENSMUSP00000127637
Ensembl peptide - ENSMUSP00000127905
NCBI entrez gene - 380654     See in Manteia.
MGI - MGI:1922208
RefSeq - XM_017314190
RefSeq - NM_001347060
RefSeq - XM_011243634
RefSeq - XM_011243636
RefSeq - XM_011243638
RefSeq - XM_011243639
RefSeq - XM_011243640
RefSeq - XM_011243641
RefSeq - XM_017314189
RefSeq Peptide - NP_001333989
swissprot - E9PZY5
swissprot - A0A1W2P752
swissprot - F6SXY8
swissprot - Q8C6S9
swissprot - F6Z1L4
swissprot - A0A1L1STN0
swissprot - A0A140T8I5
swissprot - F6V4L0
Ensembl - ENSMUSG00000020014
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000030853Gallus gallus
 CFAP54ENSG00000188596Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR027912  Cilia- and flagella-associated protein 54


Gene Ontology (GO)
multicellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organism reproductioncellular component organizationcellular developmental processcellular component biogenesislocalization of cellmovement of cell or subcellular componentmicrotubule-based processmulticellular organimulticellular organism reproductioncellular component ocellular component organizationcellular developmentcellular developmental processcellular component bcellular component biogenesislocalization of celllocalization of cellmovement of cell or movement of cell or subcellular componentmicrotubule-based prmicrotubule-based process
protein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein bindingprotein binding
cellorganellecellorganellecellorganellecellorganellecellorganellecellorganellecellorganellecellorganellecellorganellecellorganellecellcellorganelleorganelle
TypeGO IDTermEv.Code
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0060294 cilium movement involved in cell motility IMP
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0005930 axoneme ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
skeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypecraniofacial phenotypenervous system phenotypecardiovascular system phenotypereproductive system phenotypemortality/agingrespiratory system phenotypecellular phenotypeskeleton phenotypskeleton phenotypecraniofacial phencraniofacial phenotypenervous system phnervous system phenotypecardiovascular sycardiovascular system phenotypereproductive systreproductive system phenotypemortality/agingmortality/agingrespiratory systerespiratory system phenotypecellular phenotypcellular phenotype
IDPhenotypeDefinition Genetic BG
 MP:0000440 domed skull 
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: 129S6.B6N-Cfap54Gt(IST10309B2)Tigm

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0001917 intraventricular hemorrhage "bleeding into the brain ventricles" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0001932 abnormal spermiogenesis "failure of sperm cells to form or differentiate" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0002285 abnormal tracheal ciliated epithelium morphology "structural anomaly of the epithelial lining of the trachea which contains numerous ciliated cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology:ISBN 0-397-51047-0]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0008545 absent sperm flagella "mature spermatozoa lack a flagella" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0009239 short sperm flagellum "decreased length of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0009838 abnormal sperm axoneme morphology "any structural abnormality of the central core of the sperm flagellum, composed of a ring of 9 outer microtubule doublets surrounding a central pair; inner and outer dynein arms project from each of the outer 9 doublets, and these arms are responsible for generating the motive force of the flagellum; in addition, 9 radial spokes, each of which originates from 1 of the 9 outer microtubular doublet pairs, project inward toward the central pair in a helical fashion" [PMID:14581499]
Show

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0010752 impaired mucociliary clearance "reduced ability to remove mucus and other foreign particles and microorganisms from the lungs by directed ciliary movement and secretory activity of the tracheobronchial submucosal glands" [MESH:E01.370.386.520, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0011050 abnormal respiratory motile cilium morphology "any structural anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0011055 abnormal respiratory motile cilium physiology "any functional anomaly of the multiple epithelial tiny, motile hair-like projections, which have a variable arrangement of axonemal microtubules, contains molecular motors, and beat with a characteristic whip-like pattern that promote transport of fluids and other cells across the epithelium of the respiratory tract; may include alterations in ciliary beating pattern or frequency" [GO:0031514, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

 MP:0011057 absent brain ependyma motile cilia "absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

 MP:0011069 abnormal brain ependyma motile cilium physiology "any functional anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il10tm1Cgn/Il10tm1Cgn,sao/sao
Genetic Background: NOD.Cg-Il10tm1Cgn sao

Allelic Composition: Cfap54Gt(IST10309B2)Tigm/Cfap54Gt(IST10309B2)Tigm
Genetic Background: (B6J.B6N-Cfap54Gt(IST10309B2)Tigm x 129S6.B6N-Cfap54Gt(IST10309B2)Tigm)F1

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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