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

Gene ID: 382562, updated on 27-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
  • 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

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