ENSMUSG00000044948


Mus musculus

Features
Gene ID: ENSMUSG00000044948
  
Biological name :Cfap43
  
Synonyms : Cfap43 / cilia and flagella associated protein 43 / Q3TNL8
  
Possible biological names infered from orthology : Q8NDM7
  
Species: Mus musculus
  
Chr. number: 19
Strand: -1
Band: D1
Gene start: 47737561
Gene end: 47919299
  
Corresponding Affymetrix probe sets: 10468399 (MoGene1.0st)   10468413 (MoGene1.0st)   10468415 (MoGene1.0st)   10468417 (MoGene1.0st)   10468419 (MoGene1.0st)   10468421 (MoGene1.0st)   1430911_at (Mouse Genome 430 2.0 Array)   1431894_at (Mouse Genome 430 2.0 Array)   1433943_at (Mouse Genome 430 2.0 Array)   1453951_a_at (Mouse Genome 430 2.0 Array)   1456978_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000093697
Ensembl peptide - ENSMUSP00000125007
NCBI entrez gene - 414801     See in Manteia.
NCBI entrez gene - 100048534     See in Manteia.
MGI - MGI:1289258
RefSeq - XM_017318032
RefSeq - NM_001001738
RefSeq - NM_027559
RefSeq - XM_006527174
RefSeq - XM_006527175
RefSeq - XM_011247103
RefSeq - XM_017318031
RefSeq - XM_006526532
RefSeq - XM_006526533
RefSeq - XM_006526534
RefSeq Peptide - NP_001001738
RefSeq Peptide - NP_081835
swissprot - Q3TNL8
swissprot - E9Q7R9
Ensembl - ENSMUSG00000044948
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cfap43ENSDARG00000001825Danio rerio
 ENSGALG00000038606Gallus gallus
 CFAP43ENSG00000197748Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011044  Quinoprotein amine dehydrogenase, beta chain-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR024797  Inositol 1,4,5-trisphosphate receptor-interacting protein
 IPR024810  Mab-21 domain
 IPR026250  Inositol 1,4,5-trisphosphate receptor-interacting protein family
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006469 negative regulation of protein kinase activity IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IGI
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0004860 protein kinase inhibitor activity IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0005578 teratozoospermia "presence of malformed spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0008892 abnormal sperm flagellum "any strucutral anomaly of the whiplike posterior filiform portion of the spermatozoon that provides sperm motility" [MESH:A05.360.490.890.840]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0009230 abnormal sperm head morphology "any structural abnormality of the head segment of the sperm cell which contains the nucleus with densely coiled chromatin fibers, and is surrounded anteriorly by the acrosome which contains enzymes used for penetrating the female egg" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0009238 coiled sperm flagellum "abnormal twisting of the sperm flagellum into coils or spirals" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 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: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0009241 thick sperm flagellum "increased thickness 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: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 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: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

 MP:0020451 decreased sperm progressive motility "decrease in the ability of sperm to move in a more or less straight line" [MGI:smb]
Show

Allelic Composition: Slc12a6em1Dlp/Slc12a6em1Dlp
Genetic Background: involves: C57BL/6J

  


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






 

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