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FLASH GENE

Symbol

PFN1

contributors: mct/pgu - updated : 19-06-2013

HGNC name	profilin 1
HGNC id	8881

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ALS18 amyotrophic lateral sclerosis 18
Location	17p13.2      Physical location : 4.848.948 - 4.851.825
Synonym name	epididymis tissue protein Li 184a
Synonym symbol(s)	ALS18

DNA

TYPE	functioning gene
STRUCTURE	3.44 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005022 3 - 1365 NP_005013 - 140 - 1995 7758455

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Lymphoid/Immune lymph node       highly Reproductive female system ovary     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic plasma       Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

profilin family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus

basic FUNCTION	preventing its polymerization to F-actin
	key factor for dynamic rearrangements of the actin cytoskeleton
	not required for actomyosin ring formation in dividing chondrocytes but necessary to generate sufficient force for abscission during late cytokinesis
	regulates vascular endothelial cells migration, invasion and capillary morphogenesis through its interaction with both actin and proline-rich ligands
	involved in angiotensin II-induced vascular smooth muscle cell proliferation
	required for glial cell adhesion and radial migration of cerebellar granule neurons
	functional role for both profilins (PFN1, PFN2) in neuronal nuclei
	key player to control actin fiber structure, and it is involved in a number of cellular activities such as migration
	critical molecule for the skeletal development, and this could be at least in part associated with the retardation of cell migration
	crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin
	actin monomer-binding protein, linked to many cellular activities ranging from control of actin polymerization to gene transcription
	actin-regulatory protein that has a role in modulating smooth muscle contraction

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

NACC1/actin/PFN1 complex is crucial for cancer cell cytokinesis, with a variety of important biologic and clinical implications

INTERACTION

DNA

RNA

small molecule

protein	G-actin binding
	interacting with DNM1, DNM2, CTTN
	importance of the interaction of profilin I with actin, proline-rich proteins and phosphatidylinositol 4,5-bisphosphate in neuronal differentiation
	small actin-binding factor that also interacts with HTT, as being a direct target of the ROCK1 isoform (
	interaction of CTTN with PFN1 plays a pivotal role in regulating actin dynamics, smooth muscle contraction, and airway hyperresponsiveness in asthma (the association of CTTN with PFN1 is regulated by ABL1-mediated CTTN phosphorylation)

cell & other

REGULATION

Phosphorylated by

VEGFA (VEGFA-inducible phosphorylation of PFN1 at Tyr 129 is critical for endothelial cell migration and angiogenesis)

ASSOCIATED DISORDERS

corresponding disease(s)

ALS18

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   sensitizes cancer cells to apoptosis through the typical intrinsic apoptotic pathway constitutional     --over   reduces the aggregation of polyglutamine-expanded HTT and androgen receptor (AR) peptides

Susceptibility

to Amyotrophic lateral sclerosis (ALS18)

Variant & Polymorphism

Candidate gene
Marker	has the potential to serve as a diagnostic or progression biomarker in renal cell carcinoma
Therapy target
	System Type Disorder Pubmed cancer urinary   therapeutic target in renal cell carcinoma

ANIMAL & CELL MODELS

	homozygous Col2pfn1 mice develop progressive chondrodysplasia caused by disorganization of the growth plate and defective chondrocyte cytokinesis, indicated by the appearance of binucleated cells
	Pfn1-deficient mice exhibited an absence of trabecular bone in the marrow space of appendicular long bone 1)