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PFN1 profilin 1 [ Homo sapiens (human) ]

Gene ID: 5216, updated on 9-Feb-2020

Summary

Official Symbol
PFN1provided by HGNC
Official Full Name
profilin 1provided by HGNC
Primary source
HGNC:HGNC:8881
See related
Ensembl:ENSG00000108518 MIM:176610
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

Genomic context

See PFN1 in Genome Data Viewer
Location:
17p13.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4945652..4948530, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4848945..4852381, complement)

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

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

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
  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 Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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