PFN1 - profilin 1 Gene

Homo sapiens

Also known as ALS18

Gene ID: 5216 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136808	Pfn1-IN-1		/	Unkown
HY-RS10368	PFN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-116903	Pfn1-IN-2		/	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

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