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PFN1 (profilin 1)

Identity

Other aliasALS18
HGNC (Hugo) PFN1
LocusID (NCBI) 5216
Atlas_Id 41695
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4848945 and ends at 4852381 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BOLA2 (16p11.2) / PFN1 (17p13.2)DES (2q35) / PFN1 (17p13.2)PFN1 (17p13.2) / DNM3 (1q24.3)
PFN1 (17p13.2) / NAGK (2p13.3)PFN1 (17p13.2) / TMEM214 (2p23.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PFN1   8881
Cards
Entrez_Gene (NCBI)PFN1  5216  profilin 1
AliasesALS18
GeneCards (Weizmann)PFN1
Ensembl hg19 (Hinxton)ENSG00000108518 [Gene_View]  chr17:4848945-4852381 [Contig_View]  PFN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108518 [Gene_View]  chr17:4848945-4852381 [Contig_View]  PFN1 [Vega]
ICGC DataPortalENSG00000108518
TCGA cBioPortalPFN1
AceView (NCBI)PFN1
Genatlas (Paris)PFN1
WikiGenes5216
SOURCE (Princeton)PFN1
Genetics Home Reference (NIH)PFN1
Genomic and cartography
GoldenPath hg19 (UCSC)PFN1  -     chr17:4848945-4852381 -  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PFN1  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblPFN1 - 17p13.2 [CytoView hg19]  PFN1 - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIPFN1 [Mapview hg19]  PFN1 [Mapview hg38]
OMIM176610   614808   
Gene and transcription
Genbank (Entrez)AA358044 AK312168 AL525538 BC002475 BC006768
RefSeq transcript (Entrez)NM_005022
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_012063 NG_032945 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)PFN1
Cluster EST : UnigeneHs.494691 [ NCBI ]
CGAP (NCI)Hs.494691
Alternative Splicing GalleryENSG00000108518
Gene ExpressionPFN1 [ NCBI-GEO ]   PFN1 [ EBI - ARRAY_EXPRESS ]   PFN1 [ SEEK ]   PFN1 [ MEM ]
Gene Expression Viewer (FireBrowse)PFN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5216
GTEX Portal (Tissue expression)PFN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07737   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07737  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07737
Splice isoforms : SwissVarP07737
PhosPhoSitePlusP07737
Domaine pattern : Prosite (Expaxy)PROFILIN (PS00414)   
Domains : Interpro (EBI)PFN    Profilin1/2/3_vertebrate    Profilin_CS   
Domain families : Pfam (Sanger)Profilin (PF00235)   
Domain families : Pfam (NCBI)pfam00235   
Domain families : Smart (EMBL)PROF (SM00392)  
Conserved Domain (NCBI)PFN1
DMDM Disease mutations5216
Blocks (Seattle)PFN1
PDB (SRS)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
PDB (PDBSum)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
PDB (IMB)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
PDB (RSDB)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
Structural Biology KnowledgeBase1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
SCOP (Structural Classification of Proteins)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
CATH (Classification of proteins structures)1AWI    1CF0    1CJF    1FIK    1FIL    1PFL    2PAV    2PBD    3CHW    4X1L    4X1M    4X25   
SuperfamilyP07737
Human Protein AtlasENSG00000108518
Peptide AtlasP07737
HPRD01452
IPIIPI00216691   
Protein Interaction databases
DIP (DOE-UCLA)P07737
IntAct (EBI)P07737
FunCoupENSG00000108518
BioGRIDPFN1
STRING (EMBL)PFN1
ZODIACPFN1
Ontologies - Pathways
QuickGOP07737
Ontology : AmiGOadenyl-nucleotide exchange factor activity  neural tube closure  actin binding  actin monomer binding  receptor binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  nucleus  cytoplasm  cytosol  cytoskeleton  focal adhesion  cell cortex  positive regulation of epithelial cell migration  membrane  Rho GTPase binding  actin cytoskeleton organization  negative regulation of actin filament polymerization  positive regulation of actin filament polymerization  negative regulation of actin filament bundle assembly  positive regulation of actin filament bundle assembly  positive regulation of ATPase activity  neuron projection  poly(A) RNA binding  synapse  positive regulation of transcription from RNA polymerase II promoter  positive regulation of viral transcription  protein stabilization  positive regulation of DNA metabolic process  positive regulation of stress fiber assembly  negative regulation of stress fiber assembly  Wnt signaling pathway, planar cell polarity pathway  extracellular exosome  proline-rich region binding  cellular response to growth factor stimulus  blood microparticle  positive regulation of ruffle assembly  
Ontology : EGO-EBIadenyl-nucleotide exchange factor activity  neural tube closure  actin binding  actin monomer binding  receptor binding  protein binding  phosphatidylinositol-4,5-bisphosphate binding  nucleus  cytoplasm  cytosol  cytoskeleton  focal adhesion  cell cortex  positive regulation of epithelial cell migration  membrane  Rho GTPase binding  actin cytoskeleton organization  negative regulation of actin filament polymerization  positive regulation of actin filament polymerization  negative regulation of actin filament bundle assembly  positive regulation of actin filament bundle assembly  positive regulation of ATPase activity  neuron projection  poly(A) RNA binding  synapse  positive regulation of transcription from RNA polymerase II promoter  positive regulation of viral transcription  protein stabilization  positive regulation of DNA metabolic process  positive regulation of stress fiber assembly  negative regulation of stress fiber assembly  Wnt signaling pathway, planar cell polarity pathway  extracellular exosome  proline-rich region binding  cellular response to growth factor stimulus  blood microparticle  positive regulation of ruffle assembly  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]    Erk and PI-3 Kinase Are Necessary for Collagen Binding in Corneal Epithelia [Genes]   
Pathways : KEGGRap1 signaling pathway    Regulation of actin cytoskeleton    Shigellosis    Salmonella infection   
NDEx NetworkPFN1
Atlas of Cancer Signalling NetworkPFN1
Wikipedia pathwaysPFN1
Orthology - Evolution
OrthoDB5216
GeneTree (enSembl)ENSG00000108518
Phylogenetic Trees/Animal Genes : TreeFamPFN1
HOVERGENP07737
HOGENOMP07737
Homologs : HomoloGenePFN1
Homology/Alignments : Family Browser (UCSC)PFN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPFN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PFN1
dbVarPFN1
ClinVarPFN1
1000_GenomesPFN1 
Exome Variant ServerPFN1
ExAC (Exome Aggregation Consortium)PFN1 (select the gene name)
Genetic variants : HAPMAP5216
Genomic Variants (DGV)PFN1 [DGVbeta]
DECIPHER (Syndromes)17:4848945-4852381  ENSG00000108518
CONAN: Copy Number AnalysisPFN1 
Mutations
ICGC Data PortalPFN1 
TCGA Data PortalPFN1 
Broad Tumor PortalPFN1
OASIS PortalPFN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPFN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPFN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PFN1
DgiDB (Drug Gene Interaction Database)PFN1
DoCM (Curated mutations)PFN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PFN1 (select a term)
intoGenPFN1
Cancer3DPFN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176610    614808   
Orphanet106   
MedgenPFN1
Genetic Testing Registry PFN1
NextProtP07737 [Medical]
TSGene5216
GENETestsPFN1
Huge Navigator PFN1 [HugePedia]
snp3D : Map Gene to Disease5216
BioCentury BCIQPFN1
ClinGenPFN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5216
Chemical/Pharm GKB GenePA33219
Clinical trialPFN1
Miscellaneous
canSAR (ICR)PFN1 (select the gene name)
Probes
Litterature
PubMed137 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePFN1
EVEXPFN1
GoPubMedPFN1
iHOPPFN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:04 CET 2017

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