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Cfap44 cilia and flagella associated protein 44 [ Mus musculus (house mouse) ]

Gene ID: 212517, updated on 27-Nov-2024

Summary

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Official Symbol
Cfap44provided by MGI
Official Full Name
cilia and flagella associated protein 44provided by MGI
Primary source
MGI:MGI:1277238
See related
Ensembl:ENSMUSG00000071550 AllianceGenome:MGI:1277238
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Wdr52; Gm1750; D16Ertd642e; 6330444M21Rik
Summary
Predicted to enable peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within several processes, including cilium organization; nucleus organization; and spermatogenesis. Predicted to be located in axoneme. Is expressed in choroid plexus and floor plate. Used to study spermatogenic failure 20. Human ortholog(s) of this gene implicated in spermatogenic failure 20. Orthologous to human CFAP44 (cilia and flagella associated protein 44). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 4.1), CNS E14 (RPKM 1.6) and 11 other tissues See more
Orthologs
human all
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Genomic context

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See Cfap44 in Genome Data Viewer
Location:
16 B4; 16 28.72 cM
Exon count:
39
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (44215103..44303057)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (44394742..44482694)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene SID1 transmembrane family, member 1 Neighboring gene STARR-seq mESC enhancer starr_40897 Neighboring gene STARR-seq mESC enhancer starr_40898 Neighboring gene STARR-seq mESC enhancer starr_40899 Neighboring gene spindle and centriole associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_40902 Neighboring gene STARR-seq mESC enhancer starr_40903 Neighboring gene STARR-seq mESC enhancer starr_40904 Neighboring gene Boc Hedgehog-responsive enhancer Neighboring gene STARR-seq mESC enhancer starr_40905 Neighboring gene BOC cell adhesion associated, oncogene regulated Neighboring gene VISTA enhancer mm1504 Neighboring gene predicted gene, 30064 Neighboring gene microRNA 3081

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility. Kherraf ZE, et al. Mol Cell Endocrinol, 2018 Jun 15. PMID 29522859
  2. Oligogenic heterozygous inheritance of sperm abnormalities in mouse. Martinez G, et al. Elife, 2022 Apr 22. PMID 35451961, Free PMC Article
  3. Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella. Tang S, et al. Am J Hum Genet, 2017 Jun 1. PMID 28552195, Free PMC Article
  4. Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human. Coutton C, et al. Nat Commun, 2018 Feb 15. PMID 29449551, Free PMC Article
  5. Isolation of novel tissue-specific genes from cDNA libraries representing the individual tissue constituents of the gastrulating mouse embryo. Harrison SM, et al. Development, 1995 Aug. PMID 7671812

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility.
    Title: Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3)  1 citation
  • Targeted (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cell morphogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within cilium organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within microtubule cytoskeleton organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within nucleus organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm axoneme assembly ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within sperm motility IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within spermatogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cellular_component ND
No biological Data available
more info
  
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 44
Names
WD repeat domain 52

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033247.1 → NP_001028419.1  cilia- and flagella-associated protein 44

    See identical proteins and their annotated locations for NP_001028419.1

    Status: PROVISIONAL

    Source sequence(s)
    AC147045
    Consensus CDS
    CCDS49854.1
    UniProtKB/Swiss-Prot
    E9Q5M6
    Related
    ENSMUSP00000097331.3, ENSMUST00000099742.9
    Conserved Domains (5) summary
    COG1196
    Location:1537 → 1817
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:222 → 601
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:263 → 305
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:903 → 1817
    SMC_N; RecF/RecN/SMC N terminal domain
    cl29593
    Location:793 → 873
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    44215103..44303057
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011245864.4 → XP_011244166.1  cilia- and flagella-associated protein 44 isoform X1

    See identical proteins and their annotated locations for XP_011244166.1

    UniProtKB/Swiss-Prot
    E9Q5M6
    Conserved Domains (5) summary
    COG1196
    Location:1537 → 1817
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:222 → 601
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:263 → 305
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:903 → 1817
    SMC_N; RecF/RecN/SMC N terminal domain
    cl29593
    Location:793 → 873
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_006521963.4 → XP_006522026.1  cilia- and flagella-associated protein 44 isoform X2

    Conserved Domains (5) summary
    COG1196
    Location:1428 → 1708
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:113 → 492
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:154 → 196
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:794 → 1708
    SMC_N; RecF/RecN/SMC N terminal domain
    cl29593
    Location:684 → 764
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. XM_006521964.4 → XP_006522027.1  cilia- and flagella-associated protein 44 isoform X3

    Conserved Domains (5) summary
    COG1196
    Location:1370 → 1650
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    COG2319
    Location:55 → 434
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:96 → 138
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:736 → 1650
    SMC_N; RecF/RecN/SMC N terminal domain
    cl29593
    Location:626 → 706
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. XM_006521967.3 → XP_006522030.2  cilia- and flagella-associated protein 44 isoform X4

    Conserved Domains (4) summary
    COG1196
    Location:1231 → 1511
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    sd00039
    Location:156 → 192
    7WD40; WD40 repeat [structural motif]
    pfam02463
    Location:597 → 1511
    SMC_N; RecF/RecN/SMC N terminal domain
    cl29593
    Location:141 → 309
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  5. XM_017316924.2 → XP_017172413.1  cilia- and flagella-associated protein 44 isoform X5

    Conserved Domains (1) summary
    COG1196
    Location:647 → 927
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

RNA

  1. XR_004939179.1 RNA Sequence

  2. XR_003951775.2 RNA Sequence

  3. XR_003951774.2 RNA Sequence

  4. XR_003951772.2 RNA Sequence

  5. XR_875763.2 RNA Sequence

  6. XR_003951773.2 RNA Sequence

  7. XR_003951776.2 RNA Sequence

  8. XR_003951777.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9Q5M6.1 GenPept UniProtKB/Swiss-Prot:E9Q5M6

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