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PFN1 profilin 1 [ Homo sapiens (human) ]

Gene ID: 5216, updated on 5-Jan-2025

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
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Genomic context

See PFN1 in Genome Data Viewer
Location:
17p13.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4945652..4948530, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4836000..4838878, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr17:4841097-4841622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841623-4842148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4842149-4842674 Neighboring gene solute carrier family 25 member 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11555 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4843813-4844007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11556 Neighboring gene ring finger protein 167 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4847507-4848050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8056 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8057 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4854946-4855680 Neighboring gene enolase 3 Neighboring gene sperm associated antigen 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4868801-4869478 Neighboring gene uncharacterized LOC124900387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870157-4870834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:4870835-4871511

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in actin cytoskeleton organization  
involved_in modification of postsynaptic actin cytoskeleton  
involved_in modulation of chemical synaptic transmission  
involved_in negative regulation of actin filament bundle assembly PubMed 
involved_in negative regulation of actin filament polymerization PubMed 
involved_in negative regulation of stress fiber assembly PubMed 
involved_in neural tube closure  
involved_in positive regulation of ATP-dependent activity PubMed 
involved_in positive regulation of actin filament bundle assembly  
involved_in positive regulation of actin filament polymerization PubMed 
involved_in positive regulation of epithelial cell migration PubMed 
involved_in positive regulation of ruffle assembly PubMed 
involved_in protein stabilization PubMed 
involved_in regulation of actin filament polymerization  
involved_in regulation of transcription by RNA polymerase II  
involved_in synapse maturation  
Component Evidence Code Pubs
located_in blood microparticle PubMed 
located_in cell cortex PubMed 
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytoskeleton  
located_in cytosol  
located_in extracellular exosome PubMed 
located_in focal adhesion PubMed 
located_in glutamatergic synapse  
located_in membrane PubMed 
located_in nucleus PubMed 

General protein information

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

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.

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: 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_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)
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