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    PFN4 profilin family member 4 [ Homo sapiens (human) ]

    Gene ID: 375189, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PFN4provided by HGNC
    Official Full Name
    profilin family member 4provided by HGNC
    Primary source
    HGNC:HGNC:31103
    See related
    Ensembl:ENSG00000176732 MIM:620046; AllianceGenome:HGNC:31103
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable actin monomer binding activity. Predicted to be involved in sequestering of actin monomers and spermatid development. Predicted to be located in cytoplasm. Predicted to be active in cell cortex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 24.5) See more
    Orthologs
    mouse all
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    Genomic context

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    See PFN4 in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (24114809..24123491, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (24149512..24158188, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24337679..24346204, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24298482-24299014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24299015-24299546 Neighboring gene splicing factor 3b subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:24305416-24306346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:24307989-24308489 Neighboring gene family with sequence similarity 228 member B Neighboring gene tumor protein p53 inducible protein 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:24317825-24319024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15428 Neighboring gene uncharacterized LOC105374328 Neighboring gene family with sequence similarity 228 member A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Evolutionary expansion and structural functionalism of the ancient family of profilin proteins. Pandey DK, et al. Gene, 2017 Aug 30. PMID 28501628
    2. Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids. Behnen M, et al. BMC Cell Biol, 2009 May 6. PMID 19419568, Free PMC Article
    3. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
    2. Porfilin 4 bound to selected phosphoinositides but not to poly-L-proline, proline-rich proteins, or actin.
      Title: Testis-expressed profilins 3 and 4 show distinct functional characteristics and localize in the acroplaxome-manchette complex in spermatids.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in manchette assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sequestering of actin monomers IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm flagellum assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    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_199346.3 → NP_955378.1  profilin-4

      See identical proteins and their annotated locations for NP_955378.1

      Status: VALIDATED

      Source sequence(s)
      AC008073, AK292601
      Consensus CDS
      CCDS1709.1
      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9
      Related
      ENSP00000322170.4, ENST00000313213.5
      Conserved Domains (1) summary
      cd00148
      Location:14 → 129
      PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      24114809..24123491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712007.5 → XP_006712070.1  profilin-4 isoform X1

      See identical proteins and their annotated locations for XP_006712070.1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9
      Conserved Domains (1) summary
      cd00148
      Location:14 → 129
      PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

    2. XM_047444226.1 → XP_047300182.1  profilin-4 isoform X1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9

    3. XM_005264292.3 → XP_005264349.1  profilin-4 isoform X1

      See identical proteins and their annotated locations for XP_005264349.1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9
      Conserved Domains (1) summary
      cd00148
      Location:14 → 129
      PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

    4. XM_011532823.3 → XP_011531125.1  profilin-4 isoform X1

      See identical proteins and their annotated locations for XP_011531125.1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9
      Conserved Domains (1) summary
      cd00148
      Location:14 → 129
      PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      24149512..24158188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341879.1 → XP_054197854.1  profilin-4 isoform X1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9

    2. XM_054341877.1 → XP_054197852.1  profilin-4 isoform X1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9

    3. XM_054341878.1 → XP_054197853.1  profilin-4 isoform X1

      UniProtKB/Swiss-Prot
      Q53TL9, Q8NHR9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHR9.1 GenPept UniProtKB/Swiss-Prot:Q8NHR9

    Gene LinkOut

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

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