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    Spef1 sperm flagellar 1 [ Mus musculus (house mouse) ]

    Gene ID: 70997, updated on 9-Dec-2024

    Summary

    Official Symbol
    Spef1provided by MGI
    Official Full Name
    sperm flagellar 1provided by MGI
    Primary source
    MGI:MGI:3513546
    See related
    Ensembl:ENSMUSG00000027329 AllianceGenome:MGI:3513546
    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
    Clamp; 4931426K16Rik
    Summary
    Enables microtubule binding activity. Involved in axonemal central apparatus assembly; cilium movement; and negative regulation of microtubule depolymerization. Located in 9+2 motile cilium; axonemal central apparatus; and ciliary tip. Is expressed in several structures, including central nervous system; genitourinary system; gut; respiratory system; and sensory organ. Orthologous to human SPEF1 (sperm flagellar 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 16.6), ovary adult (RPKM 11.5) and 26 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Spef1 in Genome Data Viewer
    Location:
    2 F1; 2 63.28 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (131012181..131016730, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (131170261..131174810, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene heat shock protein 12B Neighboring gene STARR-seq mESC enhancer starr_05701 Neighboring gene adipose secreted signaling protein Neighboring gene predicted gene 14232 Neighboring gene centromere protein B Neighboring gene cell division cycle 25B

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in filopodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lamellipodium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lamellipodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microtubule bundle formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of microtubule depolymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of Wnt signaling pathway, planar cell polarity pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axonemal central apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in ciliary tip IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microvillus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in microvillus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sperm flagellar protein 1
    Names
    calponin-homology and microtubule-associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_027641.2NP_081917.1  sperm flagellar protein 1

      See identical proteins and their annotated locations for NP_081917.1

      Status: VALIDATED

      Source sequence(s)
      AK046964, AK047675
      Consensus CDS
      CCDS38245.1
      UniProtKB/Swiss-Prot
      A2ANS9, Q543S5, Q99JL1, Q9D4J8
      Related
      ENSMUSP00000105847.3, ENSMUST00000110218.9
      Conserved Domains (1) summary
      pfam06294
      Location:14104
      CH_2; CH-like domain in sperm protein

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      131012181..131016730 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)