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    PFN1 profilin 1 [ Homo sapiens (human) ]

    Gene ID: 5216, updated on 4-Dec-2022

    Summary

    Official Symbol
    PFN1provided by HGNC
    Official Full Name
    profilin 1provided by HGNC
    Primary source
    HGNC:HGNC:8881
    See related
    Ensembl:ENSG00000108518 MIM:176610; AllianceGenome:HGNC:8881
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ALS18
    Summary
    This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
    Expression
    Ubiquitous expression in appendix (RPKM 221.4), lymph node (RPKM 209.6) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PFN1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4945652..4948530, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4836000..4838878, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4848947..4851825, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167 Neighboring gene enolase 3 Neighboring gene sperm associated antigen 7 Neighboring gene uncharacterized LOC124900387

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of profilin 1 (PFN1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables actin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables actin monomer binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cadherin binding HDA PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proline-rich region binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of actin filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of ATP-dependent activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of actin filament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of actin filament polymerization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ruffle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of actin filament polymerization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synapse maturation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    profilin-1
    Names
    epididymis tissue protein Li 184a
    profilin I

    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.

    Genomic

    1. NG_032945.1 RefSeqGene

      Range
      5557..8435
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001375991.1NP_001362920.1  profilin-1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC004771
      Conserved Domains (1) summary
      smart00392
      Location:2106
      PROF; Profilin
    2. NM_005022.4NP_005013.1  profilin-1 isoform 2

      See identical proteins and their annotated locations for NP_005013.1

      Status: REVIEWED

      Source sequence(s)
      AC004771
      Consensus CDS
      CCDS11061.1
      UniProtKB/Swiss-Prot
      P07737, Q53Y44
      Related
      ENSP00000225655.5, ENST00000225655.6
      Conserved Domains (1) summary
      smart00392
      Location:2140
      PROF; Profilin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4945652..4948530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4836000..4838878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)