PFN1 profilin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4945652..4948530, complement)
RS_2023_10	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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Title: Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control.
Title: Actin-binding protein profilin1 is an important determinant of cellular phosphoinositide control.
Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.
Title: Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases.
Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population.
Title: Association of PFN1 Gene Polymorphisms with Bone Mineral Density, Bone Turnover Markers, and Osteoporotic Fractures in Chinese Population.
Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation.
Title: Profilin1 Regulates Trophoblast Invasion and Macrophage Differentiation.
ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain.
Title: ALS-causing hPFN1 mutants differentially disrupt LLPS of FUS prion-like domain.
Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Title: Profilin 1 deficiency drives mitotic defects and reduces genome stability.
Trophoblast Exosomal UCA1 Induces Endothelial Injury through the PFN1-RhoA/ROCK Pathway in Preeclampsia: A Human-Specific Adaptive Pathogenic Mechanism.
Title: Trophoblast Exosomal UCA1 Induces Endothelial Injury through the PFN1-RhoA/ROCK Pathway in Preeclampsia: A Human-Specific Adaptive Pathogenic Mechanism.
PFN1 Prevents Psoriasis Pathogenesis through IkappaBzeta Regulation.
Title: PFN1 Prevents Psoriasis Pathogenesis through IκBζ Regulation.
Histidine tautomerism dependent conformational transitions driven aggregation of profilin-1: Implications in amyotrophic lateral sclerosis.
Title: Histidine tautomerism dependent conformational transitions driven aggregation of profilin-1: Implications in amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (138)

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

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis type 18 MedGen: C3553719 OMIM: 614808 GeneReviews: Amyotrophic Lateral Sclerosis Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1578 (e-PCR)
- UniSTS:151871

GDB:189976 (e-PCR)
- UniSTS:155594

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
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 more info	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
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
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 more info	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
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 more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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.