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PFN1

GENERAL INFORMATION

Gene name

 PFN1

Gene description

 Profilin 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression, most abundant in subsets of immune cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Pending external verification.

Reliability score

 Supported based on 2 antibodies.
CAB037134 , CAB037140
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 PFN1

Synonyms

Description

 Profilin 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 17

Cytoband

 p13.2

Chromosome location (bp)

 4945652 - 4949061

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000108518 (version 83.38)

Entrez gene

 5216

UniProt

 P07737 (UniProt - Evidence at protein level)

neXtProt

 NX_P07737

Antibodypedia

 PFN1 antibodies

PROTEIN BROWSER
PFN1-001
PFN1-002
PFN1-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PFN1-001
ENSP00000225655
ENST00000225655
P07737 [Direct mapping]
Profilin-1
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000774 [adenyl-nucleotide exchange factor activity]
GO:0001843 [neural tube closure]
GO:0002576 [platelet degranulation]
GO:0003779 [actin binding]
GO:0003785 [actin monomer binding]
GO:0005515 [protein binding]
GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005925 [focal adhesion]
GO:0005938 [cell cortex]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0007596 [blood coagulation]
GO:0010634 [positive regulation of epithelial cell migration]
GO:0016020 [membrane]
GO:0017048 [Rho GTPase binding]
GO:0030036 [actin cytoskeleton organization]
GO:0030168 [platelet activation]
GO:0030837 [negative regulation of actin filament polymerization]
GO:0030838 [positive regulation of actin filament polymerization]
GO:0032232 [negative regulation of actin filament bundle assembly]
GO:0032233 [positive regulation of actin filament bundle assembly]
GO:0032781 [positive regulation of ATPase activity]
GO:0044822 [poly(A) RNA binding]
GO:0050821 [protein stabilization]
GO:0051497 [negative regulation of stress fiber assembly]
GO:0070062 [extracellular exosome]
GO:0070064 [proline-rich region binding]
GO:0072562 [blood microparticle]
GO:1900029 [positive regulation of ruffle assembly]
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 140 aa
15.1 kDa 		No 0
PFN1-002
ENSP00000465019
ENST00000574872
K7EJ44 [Direct mapping]
Profilin 1, isoform CRA_b; Profilin-1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0003779 [actin binding]
GO:0030036 [actin cytoskeleton organization]
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 104 aa
11.4 kDa 		No 0
PFN1-003
ENSP00000460363
ENST00000572383
I3L3D5 [Direct mapping]
Profilin-1
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Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0030036 [actin cytoskeleton organization]
Show all
 165 aa
17.5 kDa 		Yes 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.