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    Pfn4 profilin family, member 4 [ Mus musculus (house mouse) ]

    Gene ID: 382562, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Pfn4provided by MGI
    Official Full Name
    profilin family, member 4provided by MGI
    Primary source
    MGI:MGI:1920121
    See related
    Ensembl:ENSMUSG00000020639 AllianceGenome:MGI:1920121
    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
    2900024P18Rik
    Summary
    Predicted to enable actin monomer binding activity. Involved in acrosome assembly; manchette assembly; and sperm flagellum assembly. Predicted to be located in cytoplasm. Predicted to be active in cell cortex. Is expressed in brain; ileum; and male reproductive gland or organ. Orthologous to human PFN4 (profilin family member 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 34.5), cortex adult (RPKM 2.0) and 2 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pfn4 in Genome Data Viewer
    Location:
    12 A1.1; 12 2.09 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (4819010..4828813)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (4769015..4778813)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 228, member B Neighboring gene predicted gene, 23676 Neighboring gene predicted gene, 22003 Neighboring gene tubulin, alpha 1C pseudogene Neighboring gene quinone oxidoreductase PIG3 pseudogene

    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. PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis. Umer N, et al. Development, 2022 Aug 15. PMID 35950913, Free PMC Article
    2. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    3. The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Koscielny G, et al. Nucleic Acids Res, 2014 Jan. PMID 24194600, Free PMC Article
    4. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis.
      Title: PFN4 is required for manchette development and acrosome biogenesis during mouse spermiogenesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • 2900024P18Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin monomer binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in manchette assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sequestering of actin monomers IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    profilin-4
    Names
    profilin IV

    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_001361147.1 → NP_001348076.1  profilin-4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein
      Source sequence(s)
      AY495949, BC094614, BI135172, CT025683
      Consensus CDS
      CCDS25790.1
      UniProtKB/Swiss-Prot
      Q6JEK6, Q9D6I3
      UniProtKB/TrEMBL
      A0A1W2P6U9
      Related
      ENSMUSP00000136765.2, ENSMUST00000178879.3
      Conserved Domains (1) summary
      pfam00235
      Location:14 → 126
      Profilin

    2. NM_028376.4 → NP_082652.1  profilin-4

      See identical proteins and their annotated locations for NP_082652.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC094614, BI135172, CT025683
      Consensus CDS
      CCDS25790.1
      UniProtKB/Swiss-Prot
      Q6JEK6, Q9D6I3
      UniProtKB/TrEMBL
      A0A1W2P6U9
      Related
      ENSMUSP00000020967.5, ENSMUST00000020967.11
      Conserved Domains (1) summary
      pfam00235
      Location:14 → 126
      Profilin

    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_000078.7 Reference GRCm39 C57BL/6J

      Range
      4819010..4828813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515140.4 → XP_006515203.1  profilin-4 isoform X1

      See identical proteins and their annotated locations for XP_006515203.1

      UniProtKB/Swiss-Prot
      Q6JEK6, Q9D6I3
      UniProtKB/TrEMBL
      A0A1W2P6U9
      Conserved Domains (1) summary
      pfam00235
      Location:14 → 126
      Profilin

    2. XM_006515138.3 → XP_006515201.1  profilin-4 isoform X1

      See identical proteins and their annotated locations for XP_006515201.1

      UniProtKB/Swiss-Prot
      Q6JEK6, Q9D6I3
      UniProtKB/TrEMBL
      A0A1W2P6U9
      Conserved Domains (1) summary
      pfam00235
      Location:14 → 126
      Profilin

    3. XM_006515141.4 → XP_006515204.1  profilin-4 isoform X2

      Conserved Domains (1) summary
      pfam00235
      Location:30 → 123
      Profilin
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D6I3.1 GenPept UniProtKB/Swiss-Prot:Q9D6I3

    Gene LinkOut

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

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