PFN1 - profilin 1 Gene

Also Known as ALS18

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5216

About PFN1

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,945,652-4,948,530 (from NCBI)

This gene has 3 transcripts (splice variants), 176 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in appendix (RPKM 221.4), lymph node (RPKM 209.6) and 24 other tissues.

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]

PFN1 Products (2)

mRNA	Protein	Name
NM_001375991.1	NP_001362920.1	profilin-1 isoform 1
NM_005022.4	NP_005013.1	profilin-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin binding	IPI IPI: Inferred from physical interaction	7758455	GOA
enables actin monomer binding	IDA IDA: Inferred from direct assay	18573880	GOA
enables adenyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	7758455	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	7758455	GOA
enables phosphotyrosine residue binding	IPI IPI: Inferred from physical interaction	24700464	GOA
enables proline-rich region binding	IPI IPI: Inferred from physical interaction	17914456	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9822597	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of actin filament bundle assembly	IMP IMP: Inferred from mutant phenotype	23153535	GOA
involved in negative regulation of actin filament polymerization	IDA IDA: Inferred from direct assay	7758455	GOA
involved in negative regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	23153535	GOA
involved in positive regulation of ATP-dependent activity	IDA IDA: Inferred from direct assay	7758455	GOA
involved in positive regulation of actin filament polymerization	IGI IGI: Inferred from genetic interaction	23153535	GOA
involved in positive regulation of epithelial cell migration	IMP IMP: Inferred from mutant phenotype	23153535	GOA
involved in positive regulation of ruffle assembly	IMP IMP: Inferred from mutant phenotype	23153535	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	18573880	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell cortex	IDA IDA: Inferred from direct assay	24700464	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	24700464	GOA
located in nucleus	IDA IDA: Inferred from direct assay	24700464	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PFN1 Protein Structure

Profilin

0
100
140 a.a.

Protein Preferred Names	Protein Names
profilin-1	epididymis tissue protein Li 184a

PFN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PFN1	P07737	WASF1	Homo sapiens	Q92558	Far-WB	9843499
Intra	PFN1	P07737	WASF1	Homo sapiens	Q92558	Anti Tag CoIP	35271311
Intra	PFN1	P07737	ACTB	Homo sapiens	P60709	Y2H	19338310
Intra	PFN1	P07737	VASP	Homo sapiens	P50552	Lumier	32814053
Intra	PFN1	P07737	VASP	Homo sapiens	P50552	Anti Tag CoIP	35271311
Cross	PFN1	P07737	Wasl	Rattus norvegicus	O08816	Pull Down	9822597

Cross: Cross-species interaction Intra: Intraspecies interaction

PFN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82051	Profilin 1 Antibody (YA1796)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P82051A	Profilin 1 Antibody (YA1796)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Amyotrophic Lateral Sclerosis 18	Amyotrophic Lateral Sclerosis Type 18 ALS18 Sclerosis, Lateral, Amyotrophic, Type 18
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Amyotrophic Lateral Sclerosis Type 6	Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Als6 Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia Autosomal Recessive Amyotrophic Lateral Sclerosis 6 Sclerosis, Lateral, Amyotrophic, Type Type 6 Amyotrophic Lateral Sclerosis 6
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Ibmpfd Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia Pagetoid Amyotrophic Lateral Sclerosis Pagetoid Neuroskeletal Syndrome Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia Multisystem Proteinopathy Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement Lower Motor Neuron Degeneration With Paget-Like Bone Disease Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136808	Pfn1-IN-1	Inhibitor	99.17%	Unkown
HY-116903	Pfn1-IN-2		99.86%	Unkown
HY-RS10368	PFN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22276	Pfn1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28799	Pfn1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PFN1	VGNC	VGNC:75962
Mus musculus	PFN1	MGD	MGI:97549
Rattus norvegicus	PFN1	RGD	RGD:621825
Canis familiaris	PFN1	VGNC	VGNC:53432
Others	PFN1	NCBI