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    Spag17 sperm associated antigen 17 [ Mus musculus (house mouse) ]

    Gene ID: 74362, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Spag17provided by MGI
    Official Full Name
    sperm associated antigen 17provided by MGI
    Primary source
    MGI:MGI:1921612
    See related
    Ensembl:ENSMUSG00000027867 AllianceGenome:MGI:1921612
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    PF6; Spag17-ps; 4931427F14Rik
    Summary
    Involved in intramanchette transport; manchette assembly; and motile cilium assembly. Acts upstream of or within axonemal central apparatus assembly; epithelial cilium movement involved in extracellular fluid movement; and establishment of localization in cell. Located in Golgi apparatus; acrosomal vesicle; and cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; nasal cavity respiratory epithelium; respiratory system; and spinal cord. Human ortholog(s) of this gene implicated in spermatogenic failure 55. Orthologous to human SPAG17 (sperm associated antigen 17). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 17.1) and lung adult (RPKM 0.4) See more
    Orthologs
    human all
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    Genomic context

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    See Spag17 in Genome Data Viewer
    Location:
    3 F2.2; 3 43.25 cM
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (99792653..100050638)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (99885417..100143322)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_08486 Neighboring gene mannose-6-phosphate receptor, pseudogene Neighboring gene STARR-seq mESC enhancer starr_08487 Neighboring gene STARR-seq mESC enhancer starr_08488 Neighboring gene STARR-seq mESC enhancer starr_08489 Neighboring gene predicted gene, 22505 Neighboring gene STARR-seq mESC enhancer starr_08490 Neighboring gene ribosomal protein L36, pseudogene 7 Neighboring gene STARR-seq mESC enhancer starr_08491 Neighboring gene STARR-positive B cell enhancer ABC_E6088 Neighboring gene WD repeat domain 3 Neighboring gene ganglioside-induced differentiation-associated-protein 2 Neighboring gene predicted gene, 25802

    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 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. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice. Abdelhamed Z, et al. Dis Model Mech, 2020 Oct 30. PMID 32988999, Free PMC Article
    2. SPAG17 mediates nuclear translocation of protamines during spermiogenesis. Agudo-Rios C, et al. Front Cell Dev Biol, 2023. PMID 37766963, Free PMC Article
    3. Spag17 deficiency results in skeletal malformations and bone abnormalities. Teves ME, et al. PLoS One, 2015. PMID 26017218, Free PMC Article
    4. Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival. Teves ME, et al. Am J Respir Cell Mol Biol, 2013 Jun. PMID 23418344, Free PMC Article
    5. SPAG17 Is Required for Male Germ Cell Differentiation and Fertility. Kazarian E, et al. Int J Mol Sci, 2018 Apr 21. PMID 29690537, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.
      Title: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.
    2. Results show for the first time that Spag17 is essential for normal manchette structure, protein transport, and formation of the sperm head and flagellum, in addition to its role in sperm motility.
      Title: SPAG17 Is Required for Male Germ Cell Differentiation and Fertility.
    3. Spag17 plays a role in skeletal growth and mineralization.Spag17 deficiency results in skeletal malformations and bone abnormalities.
      Title: Spag17 deficiency results in skeletal malformations and bone abnormalities.
    4. Deletion of Spag17 gene expression results in hydrocephalus and pulmonary and nasal mucus and fluid congestion.
      Title: Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within axonemal central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in extracellular fluid movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intramanchette transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in manchette assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axonemal central apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axonemal central apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in axonemal central apparatus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in manchette IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    sperm-associated antigen 17
    Names
    projection protein PF6 homolog
    sperm associated antigen 17, pseudogene

    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_028892.4 → NP_083168.3  sperm-associated antigen 17

      See identical proteins and their annotated locations for NP_083168.3

      Status: VALIDATED

      Source sequence(s)
      AC102209, AK029691, AK029947, AK136364, AL606749, AY792594, BX639948
      Consensus CDS
      CCDS57248.1
      UniProtKB/Swiss-Prot
      G3UYF7, Q3UWG8, Q5S003, Q6Q758, Q8CDR5, Q9CUE5
      Related
      ENSMUSP00000134066.2, ENSMUST00000164539.2
      Conserved Domains (1) summary
      pfam14874
      Location:2173 → 2239
      PapD-like; Flagellar-associated PapD-like

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      99792653..100050638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036163362.1 → XP_036019255.1  sperm-associated antigen 17 isoform X1

      Conserved Domains (1) summary
      pfam14874
      Location:2023 → 2089
      PapD-like; Flagellar-associated PapD-like
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5S003.2 GenPept UniProtKB/Swiss-Prot:Q5S003

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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