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PFN3 profilin 3 [ Homo sapiens (human) ]

Gene ID: 345456, updated on 21-Dec-2019

Summary

Official Symbol
PFN3provided by HGNC
Official Full Name
profilin 3provided by HGNC
Primary source
HGNC:HGNC:18627
See related
Ensembl:ENSG00000196570 MIM:612812
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
Summary
The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]
Orthologs

Genomic context

See PFN3 in Genome Data Viewer
Location:
5q35.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (177400109..177400661, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176827108..176827637, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 14 Neighboring gene VISTA enhancer hs2229 Neighboring gene solute carrier family 34 member 1 Neighboring gene coagulation factor XII Neighboring gene G protein-coupled receptor kinase 6 Neighboring gene PRR7 antisense RNA 1

Genomic regions, transcripts, and products

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
NHGRI GWA Catalog
New loci associated with kidney function and chronic kidney disease.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin filament polymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
profilin-3
Names
profilin III

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.

mRNA and Protein(s)

  1. NM_001029886.3NP_001025057.1  profilin-3

    See identical proteins and their annotated locations for NP_001025057.1

    Status: REVIEWED

    Source sequence(s)
    AA909745, AC145098, BC132952
    Consensus CDS
    CCDS34301.1
    UniProtKB/Swiss-Prot
    P60673
    Related
    ENSP00000351379.2, ENST00000358571.3
    Conserved Domains (1) summary
    cd00148
    Location:3136
    PROF; Profilin binds actin monomers, membrane polyphosphoinositides such as PI(4,5)P2, and poly-L-proline. Profilin can inhibit actin polymerization into F-actin by binding to monomeric actin (G-actin) and terminal F-actin subunits, but - as a regulator of the ...

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    177400109..177400661 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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