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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PFN1 Gene

protein-coding GIFtS: 67
GCID: GC17M004848

profilin 1

Explore 21 diseases affiliated with
PFN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Profilin 1¹ ²
Epididymis Tissue Protein Li 184a² ³
Profilin I² ³
ALS18²
Profilin-1¹

External Ids:	HGNC: 8881¹	Entrez Gene: 5216²	Ensembl: ENSG00000108518⁷	OMIM: 176610⁵	UniProtKB: P07737³

Export aliases for PFN1 gene to outside databases

Previous GC identifers: GC17M005268 GC17M004793 GC17M005049 GC17M004789

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PFN1:

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)

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737

Function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the

polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation

of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its

inhibition of AR

Gene Wiki entry for PFN1 (Profilin 1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010718.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PFN1 gene promoter:
E2F-3a E2F E2F-1 E2F-2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PFN1 promoter sequence

Search SABiosciences Chromatin IP Primers for PFN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.2 HGNC cytogenetic band: 17p13.2

PFN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFN1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M004848: view genomic region (about GC identifiers)

Start:	4,848,947 bp from pter	End:	4,852,356 bp from pter
Size:	3,410 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737 (See protein sequence)

Recommended Name: Profilin-1

Size: 140 amino acids; 15054 Da

Subunit: Occurs in many kinds of cells as a complex with monomeric actin in a 1:1 ratio. Found in a complex with XPO6,

Ran, ACTB and PFN1. Interacts with VASP. Interacts with HTT

Subcellular location: Cytoplasm, cytoskeleton

6/9 PDB 3D structures from and Proteopedia for PFN1 (see all 9):

1AWI (3D)

1CF0 (3D)

1CJF (3D)

1FIK (3D)

1FIL (3D)

1PFL (3D)

Secondary accessions: Q53Y44

Explore the universe of human proteins at neXtProt for PFN1: NX_P07737

Post-translational modifications:

Phosphorylation at Ser-138 reduces its affinity for G-actin and blocks its interaction with HTT, reducing its ability

to inhibit androgen receptor (AR) and HTT aggregation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P07737

PFN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005013.1

ENSEMBL proteins:

ENSP00000225655 ENSP00000465019 ENSP00000460363

Reactome Protein details: P07737
Human Recombinant Protein Products for PFN1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PFN1
	Uscn Proteins for PFN1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	IEA	--
GO:0015629	actin cytoskeleton	IEA	--
GO:0019717	synaptosome	--	--
GO:0043005	neuron projection	IEA	--

PFN1 for ontologies About GeneDecksing

PFN1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PFN1
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	OriGene Antibodies (see all 4): PFN1 OriGene Custom Antibody Services for PFN1
	GenScript Custom Superior Antibodies Services for PFN1
	Novus Biologicals PFN1 Antibodies
	Abcam antibodies for PFN1
	Uscn Antibodies for PFN1
	ThermoFisher Antibody for PFN1

Assay Products for PFN1:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PFN1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PFN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PFN1 for domains About GeneDecksing

2 InterPro domains/families:

IPR005454 Profilin_mammal

IPR002097 Profilin

Graphical View of Domain Structure for InterPro Entry P07737

ProtoNet protein and cluster: P07737

1 Blocks protein family: IPB005454 Mammal profilin signature

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737

Similarity: Belongs to the profilin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PROF1_HUMAN, P07737

Function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the

polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation

of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its

inhibition of AR

Genatlas biochemistry entry for PFN1:

profilin 1,149kDa,G-actin binding protein,preventing its polymerization to F-actin

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003779	actin binding	IPI	17914456
GO:0005102	receptor binding	IEA	--
GO:0005515	protein binding	IPI	9843499
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IEA	--
GO:0017048	Rho GTPase binding	IEA	--

PFN1 for ontologies About GeneDecksing

Phenotypes:
8 GenomeRNAi human phenotypes for PFN1:

Decreased Salmonella enterica	Decreased Salmonella enterica	Decreased Salmonella enterica	Decreased Salmonella enterica
Decreased Salmonella enterica	Decreased Salmonella-containin	Decreased focal adhesion (FA)	Decreased nuclei size in G2M

12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Pfn1):

adipose tissue	behavior/neurological	cardiovascular system	cellular	embryogenesis
growth/size	homeostasis/metabolism	immune system	limbs/digits/tail	mortality/aging
nervous system	skeleton

PFN1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Pfn1^tm1Wit for PFN1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PFN1

miRNA Products:		OriGene 3'-UTR Clone: PFN1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFN1
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate PFN1 (see all 13):
		hsa-miR-548d-3p hsa-miR-411 hsa-miR-561 hsa-miR-3942-5p hsa-miR-522 hsa-miR-1271 hsa-miR-224* hsa-miR-885-3p

		SwitchGear 3'UTR luciferase reporter plasmid: PFN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFN1 (see all 7) OriGene shRNA RFP: PFN1 OriGene siRNA: PFN1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against PFN1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PFN1
			Sirion Biotech Customized adenovirus for overexpression of PFN1 Sirion Biotech Customized adenovirus for potent knockdown of PFN1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFN1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFN1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PFN1 (NM_005022)
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		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFN1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PFN1
		Search LifeMap BioReagents cell lines for PFN1
		Sirion Biotech Customized stable knockdown cell line services for PFN1 Sirion Biotech Customized inducible knockdown cell line services for PFN1 Sirion Biotech Customized stable overexpressing cell line services for PFN1 Sirion Biotech Customized inducible overexpressing cell line services for PFN1

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for PFN1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response _CCR3 signaling in eosinophils

Immune response _CCR3 signaling in eosinophils

1.00

Immune response CCR3 signaling in eosinophils

1.00

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Axon guidance

Axon guidance

1.00

Developmental Biology

0.69

Cytoskeleton remodeling Slit-Robo signaling

Cytoskeleton remodeling Slit-Robo signaling

1.00

Development_Slit-Robo signaling

0.92

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for PFN1

	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Cytoskeleton remodeling Slit-Robo signaling
	Immune response CCR3 signaling in eosinophils

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFN1

	RhoA Pathway
	Actin-Based Motility by Rho Family GTPases
	Integrin Pathway
	Actin Nucleation and Branching
	Fc-GammaR-Mediated Phagocytosis in Macrophages

1 Cell Signaling Technology (CST) Pathway for PFN1

Cytoskeletal Signaling

3 GeneGo (Thomson Reuters) Pathways for PFN1

	Development Slit-Robo signaling
	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
	Immune response CCR3 signaling in eosinophils

2 BioSystems Pathways for PFN1

	G13 Signaling Pathway
	Regulation of Actin Cytoskeleton

5/7 Reactome Pathways for PFN1 (see all 7)

	Hemostasis
	Developmental Biology
	Platelet degranulation
	Signaling by Robo receptor
	Platelet activation, signaling and aggregation

2 Kegg Pathways (Kegg details for PFN1):

	Regulation of actin cytoskeleton
	Shigellosis

PFN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PFN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/88 Interacting proteins for PFN1 (P07737^{1, 2, 3} ENSP00000225655⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 88)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C14orf1	Q9UKR5²^,³	MINT-63429 I2D: score=5
UNC119	Q13432²^,³	MINT-63425 I2D: score=5
CRMP1	Q14194²^,³	MINT-63426 I2D: score=4
LRIF1	Q5T3J3²^,³	MINT-63428 I2D: score=4
TLE1	Q04724²^,³	MINT-63424 I2D: score=4

About this table

Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001843	neural tube closure	IEA	--
GO:0002576	platelet degranulation	TAS	--
GO:0006357	regulation of transcription from RNA polymerase II promoter	--	--
GO:0007596	blood coagulation	TAS	--
GO:0008219	cell death	IEA	--

PFN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PFN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PFN1

1 DrugBank Compound for PFN1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
7-HYDROXY-4-METHYL-3-(2-HYDROXY-ETHYL)COUMARIN	--	--	target	--	10592235

7 Novoseek chemical compound relationships for PFN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
proline	62.1	19	19607826 (3), 9428724 (2), 10600384 (2), 19028693 (2) (see all 10)
pip2	45.2	1	1966040 (1)
glyceraldehyde 3-phosphate	35.1	3	14997506 (1), 17268060 (1), 18310271 (1)
inositol 1,4,5 trisphosphate	28.8	2	9578635 (1), 19035654 (1)
phosphoinositide	28.5	1	18937284 (1)
atp	16.4	2	18692161 (1), 18384219 (1)
lipid	0	1	9578635 (1)

Search CenterWatch for drugs/clinical trials and news about PFN1 / PROF1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PFN1 gene:

NM_005022.3

Unigene Cluster for PFN1:

Profilin 1

Hs.494691 [show with all ESTs]

Unigene Representative Sequence: BM807538

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000225655(uc002gaa.3) ENST00000574872 ENST00000572383

miRNA Products:		OriGene 3'-UTR Clone: PFN1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFN1
		8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate PFN1 (see all 13):
		hsa-miR-548d-3p hsa-miR-411 hsa-miR-561 hsa-miR-3942-5p hsa-miR-522 hsa-miR-1271 hsa-miR-224* hsa-miR-885-3p

		SwitchGear 3'UTR luciferase reporter plasmid: PFN1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFN1 (see all 7) OriGene shRNA RFP: PFN1 OriGene siRNA: PFN1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against PFN1

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		GenScript: all cDNA clones in your preferred vector: PFN1 (NM_005022)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFN1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFN1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFN1

Additional cDNA sequence:

AK312168.1 BC002475.2 BC006768.1 BC013439.1 BC015164.1 BC057828.1 BT007001.1 CR407670.1

GU727630.1 J03191.1

24/37 DOTS entries (see all 37):

DT.100828900 DT.100828860 DT.100828885 DT.95330022 DT.95330079 DT.100828897 DT.92468396 DT.91908823

DT.120890970 DT.100828896 DT.91888818 DT.95330074 DT.120891266 DT.92468411 DT.100828869 DT.120891085

DT.120891065 DT.92325585 DT.92468412 DT.100828875 DT.120891367 DT.95330024 DT.95330026 DT.100828879

24/1486 AceView cDNA sequences (see all 1486):

BQ689811 D28377 N74268 BG747753 BQ018074 BG743342 BE270339 BM563098

BU149308 CK822653 BE744752 BG030839 BU145304 AW878005 AV708605 BQ434629

BQ017986 BM560029 AA401200 BQ425885 BU147147 N20266 BM796377 BP338369

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PFN1 (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	^	3	^	4	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	·	6c	·	6d
SP1:			-										-		-
SP2:													-		-
SP3:													-		-
SP4:													-		-						-
SP5:															-

ECgene alternative splicing isoforms for PFN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PFN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCTGGGGGC

About this image

PFN1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PFN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PFN1

SOURCE GeneReport for Unigene cluster: Hs.494691

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737

Tissue specificity: Expressed in epididymis (at protein level)

SABiosciences Expression via Pathway-Focused PCR Array including PFN1:

Cell Motility in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFN1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat PFN1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFN1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFN1

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for PFN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

--

ENSEMBL Gene Tree for PFN1 (if available)
TreeFam Gene Tree for PFN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PFN1 gene

PFN2² PFN3²

3 SIMAP similar genes for PFN1 using alignment to 3 protein entries: PROF1_HUMAN (see all proteins):

PDE4DIP PFN2 PFN3

PFN1 for paralogs About GeneDecksing

5/15 Pseudogenes.org Pseudogenes for PFN1 (see all 15)
PGOHUM00000238616 PGOHUM00000243929 PGOHUM00000244198 PGOHUM00000244208 PGOHUM00000244252

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6559^1,2	C,F,A,H	--	4848450(+)	`GGTGGA/C/GGCTGG`	3	--	ds500¹ ut3¹		13		MN NS EA NA WA CSA	1705
rs181927296^1,2		--	4848648(+)	`ATTTGC/GTATGA`	2	--	int¹ ds500¹		0	--	--	--	--
rs73973665^1,2	C	--	4848690(+)	`ACTCAG/ACTAGC`	2	--	ds500¹ int¹		1		WA	2
rs73343369^1,2	C	--	4848706(+)	`CTTGCC/TTGCAG`	2	--	int¹ ds500¹		2		WA	120
rs143906754^1,2	C	--	4848853(+)	`GTAGT-/ACACCTC`	2	--	ds500¹ int¹		0	--	--	--	--
rs72835081^1,2		--	4848869(+)	`CCCTGC/TTCCCA`	2	--	ds500¹ int¹		0	--	--	--	--
rs118186761^1,2	C,F	--	4848905(+)	`AGTGCC/TTATCC`	2	--	int¹ ds500¹		1		EA	120
rs186959375^1,2		--	4848916(+)	`CCCATG/TCTGAC`	2	--	int¹ ds500¹		0	--	--	--	--
rs140057352^1,2		--	4848948(+)	`CACCTC/TGTTAG`	2	--	int¹ ut3¹		0	--	--	--	--
rs139399100^1,2		--	4848983(+)	`AAAAA-/CCCCAA`	2	--	int¹ ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PFN1 (4848947 - 4852356 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PFN1
2 CNVs: 4987 4986
Human Gene Mutation Database (HGMD): PFN1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PFN1

DNA2.0 Custom Variant and Variant Library Synthesis for PFN1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PFN1 for disorders About GeneDecksing

OMIM gene information: 176610 OMIM disorders: --

UniProtKB/Swiss-Prot: PROF1_HUMAN, P07737

Defects in PFN1 are the cause of amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808]. A neurodegenerative

disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord,

resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor

of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving

motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be

multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases

20/21 diseases for PFN1 (see all 21): About MalaCards

miller-dieker syndrome wiskott-aldrich syndrome huntington's disease coccidiosis

allergic rhinitis pancreatic ductal carcinoma renal cell carcinoma lissencephaly

shigellosis epididymitis breast cancer rhinitis

choriocarcinoma homocysteine hepatocellular carcinoma pancreatitis

nasopharyngitis carcinoma pancreatic cancer hypertension

3 diseases from the University of Copenhagen DISEASES database for PFN1:

Hypersensitivity reaction type I disease Allergic rhinitis Coccidiosis

3 Novoseek disease relationships for PFN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	24.7	37	17940506 (5), 20143334 (5), 18937284 (5), 19115233 (4) (see all 7)
tumors	0	7	14767055 (2), 17268060 (1), 17051643 (1), 10811861 (1)
cancer	0	5	20143334 (1), 14767055 (1)

Export disorders for PFN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PFN1 gene, integrated from 9 sources (see all 148):
(articles sorted by number of sources associating them with PFN1)

Utopia: connect your pdf to the dynamic
world of online information

Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis. (PubMed id 3356709)^{1, 2, 3} Kwiatkowski D.J. and Bruns G.A.P. (1988)
Distinct biochemical characteristics of the two human profilin isoforms. (PubMed id 7758455)^{1, 2, 9} Gieselmann R.... Witke W. (1995)
Characterization of the three-dimensional solution structure of human profilin: 1H, 13C, and 15N NMR assignments and global folding pattern. (PubMed id 8268157)^{1, 2, 9} Metzler W.J.... Mueller L. (1993)
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. (PubMed id 22801503)^{1, 2} Wu C.H.... Landers J.E. (2012)
Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PubMed id 20736409)^{1, 2} Li J.... Liu Y. (2010)
Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)^{1, 2} Meierhofer D.... Kaiser P. (2008)
Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. (PubMed id 18573880)^{1, 2} Shao J....Diamond M.I. (2008)
Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP. (PubMed id 17914456)^{1, 2} Ferron F....Dominguez R. (2007)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{1, 2} Rush J.... Comb M.J. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5216	HGNC: 8881	AceView: PFN1	Ensembl:ENSG00000108518	euGenes: HUgn5216
ECgene: PFN1	Kegg: 5216	H-InvDB: PFN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PFN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PFN1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for PFN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PFN1 gene:
Search GeneIP for patents involving PFN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

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