U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PFN1 profilin 1 [ Homo sapiens (human) ]

Gene ID: 5216, updated on 12-Jun-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
Try the new Gene table
Try the new Transcript table

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 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
    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)