PDGFA platelet-derived growth factor alpha polypeptide [Homo sapiens] - Gene

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Summary

Official Symbol: PDGFAprovided by HGNC
Official Full Name: platelet-derived growth factor alpha polypeptideprovided by HGNC
Primary source: HGNC:8799
See related: Ensembl:ENSG00000197461; HPRD:01424; MIM:173430; Vega:OTTHUMG00000151412
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PDGF1; PDGF-A
Summary: The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a motif of eight cysteines. This gene product can exist either as a homodimer or as a heterodimer with the platelet-derived growth factor beta polypeptide, where the dimers are connected by disulfide bonds. Studies using knockout mice have shown cellular defects in oligodendrocytes, alveolar smooth muscle cells, and Leydig cells in the testis; knockout mice die either as embryos or shortly after birth. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7p22

Sequence :: Chromosome: 7; NC_000007.13 (536895..559481, complement)

See PDGFA in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Report increased PDGF-A, PDGF-B and FGF-2 expression in recurrence of salivary gland pleomorphic adenoma.
Title: The increased PDGF-A, PDGF-B and FGF-2 expression in recurrence of salivary gland pleomorphic adenoma.
Melanoma cell-derived platelet-derived growth factor (PDGF)-AA and PDGF-CC were identified as major mediators that signal through PDGFR-alpha and thus induce HAS2-mediated HA synthesis in fibroblasts
Title: Melanoma cells control HA synthesis in peritumoral fibroblasts via PDGF-AA and PDGF-CC: impact on melanoma cell proliferation.
Studies suggest that various isoforms of PDGF bind with differential affinities to two related tyrosine kinase receptors, denoted the PDGF alpha- and beta-receptors.
Title: PDGF: the nuts and bolts of signalling toolbox.
BRAF mutations were found in 3 of 87 gastrointestinal stromal tumors.
Title: Spectrum of KIT/PDGFRA/BRAF mutations and Phosphatidylinositol-3-Kinase pathway gene alterations in gastrointestinal stromal tumors (GIST).
PDGF and PDGFR-alpha may be involved in the pathophysiology of the human thymus.
Title: Platelet-derived growth factor and platelet-derived growth factor receptor-α expression in the normal human thymus and thymoma.
TMEFF2 can function to regulate PDGF signaling; it is hypermethylated and downregulated in glioma and several other cancers
Title: TMEFF2 is a PDGF-AA binding protein with methylation-associated gene silencing in multiple cancer types including glioma.
the serum-induced increase in cell surface GLUT4 levels is not due to inhibition of its internalization and is not mediated by insulin, PDGF, IGF-1, or HGF
Title: A serum factor induces insulin-independent translocation of GLUT4 to the cell surface which is maintained in insulin resistance.
During the wound healing of nasal mucosa, the levels of PDGF, TNF-alpha, and hyaluronic acid are different at each postoperative stage.
Title: [The correlation of PDGF and TNF-alpha and HA and nasal mucosa healing after ESS].
arteriovenous malformation had higher levels of PDGF-A expression than cerebral cavernous malformation
Title: Expression of platelet-derived growth factor ligand and receptor in cerebral arteriovenous and cavernous malformations.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic factors responsible for long bone fractures non-union.

Submit: New GeneRIF Correction See all (54)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NT_079516.1			BIND	PubMed	VDR-RXRA heterodimer interacts with ACE66 enhancer of the PDGFA promoter.
P04085	P01023	A2M	HPRD	PubMed
P04085	P51452	DUSP3	HPRD	PubMed
P04085	P09958	FURIN	HPRD	PubMed
P04085	P98160	HSPG2	HPRD	PubMed
P04085	Q13442	PDAP1	HPRD	PubMed
P04085	P04085	PDGFA	HPRD	PubMed
P04085	P16234	PDGFRA	HPRD	PubMed
P04085	P09486	SPARC	HPRD	PubMed
BioGRID:111180	BioGRID:109571	HSPG2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111180	BioGRID:116461	PDAP1	BioGRID	PubMed	Co-purification
BioGRID:111180	BioGRID:111182	PDGFRA	BioGRID	PubMed	Reconstituted Complex
BioGRID:111180	BioGRID:111351	PLCG1	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
cell surface binding	IDA Inferred from Direct Assay more info	PubMed
collagen binding	IDA Inferred from Direct Assay more info	PubMed
eukaryotic cell surface binding	IDA Inferred from Direct Assay more info	PubMed
growth factor activity	IEA Inferred from Electronic Annotation more info
platelet-derived growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
platelet-derived growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to platelet-derived growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
platelet-derived growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
blood coagulation	TAS Traceable Author Statement more info
cell activation	TAS Traceable Author Statement more info	PubMed
cell projection assembly	ISS Inferred from Sequence or Structural Similarity more info
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
embryo development	TAS Traceable Author Statement more info	PubMed
hair follicle development	ISS Inferred from Sequence or Structural Similarity more info
inner ear development	IEA Inferred from Electronic Annotation more info
lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
negative chemotaxis	IDA Inferred from Direct Assay more info	PubMed
negative regulation of phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
platelet activation	TAS Traceable Author Statement more info
platelet degranulation	TAS Traceable Author Statement more info
platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of DNA replication	IDA Inferred from Direct Assay more info	PubMed
positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of cell division	IEA Inferred from Electronic Annotation more info
positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of phosphatidylinositol 3-kinase cascade	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of protein kinase B signaling cascade	IDA Inferred from Direct Assay more info	PubMed
NOT regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
regulation of actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling	ISS Inferred from Sequence or Structural Similarity more info
NOT regulation of glomerular mesangial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
regulation of smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
response to drug	IEA Inferred from Electronic Annotation more info
response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to inorganic substance	IEA Inferred from Electronic Annotation more info
response to organic substance	IEA Inferred from Electronic Annotation more info
response to retinoic acid	IEA Inferred from Electronic Annotation more info
response to wounding	IDA Inferred from Direct Assay more info	PubMed
skin development	ISS Inferred from Sequence or Structural Similarity more info
transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
wound healing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
Golgi membrane	TAS Traceable Author Statement more info
cell surface	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
microvillus	ISS Inferred from Sequence or Structural Similarity more info
platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

Preferred Names: platelet-derived growth factor subunit A

Names: platelet-derived growth factor subunit A; PDGF-1; PDGF A-chain; PDGF subunit A; platelet-derived growth factor A chain; platelet-derived growth factor alpha chain; platelet-derived growth factor alpha isoform 2 preproprotein

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029727.1 RefSeqGene

Range

5001..27587

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002607.5 → NP_002598.4 platelet-derived growth factor subunit A isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). The protein contains a C-terminal basic motif encoded by exon 6, the exon missing in variant 2.

Source sequence(s)

AC147651, X03795

Consensus CDS

CCDS34578.1

UniProtKB/Swiss-Prot

P04085

Related

ENSP00000346508, OTTHUMP00000199956, ENST00000354513, OTTHUMT00000322534

Conserved Domains (2) summary

cd00135
Location:94 – 182
Blast Score: 217

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family domain; PDGF is a potent activator for cells of mesenchymal origin; PDGF-A and PDGF-B form AA and BB homodimers and an AB heterodimer; VEGF is a potent mitogen in embryonic and ...

pfam04692
Location:21 – 95
Blast Score: 285

PDGF_N; Platelet-derived growth factor, N terminal region
NM_033023.4 → NP_148983.1 platelet-derived growth factor subunit A isoform 2 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks exon 6, compared to variant 1, and encodes the shorter isoform (2).

Source sequence(s)

AC147651, X06374

Consensus CDS

CCDS47524.1

UniProtKB/Swiss-Prot

P04085

Related

ENSP00000383889, OTTHUMP00000199955, ENST00000402802, OTTHUMT00000322533

Conserved Domains (2) summary

cd00135
Location:94 – 182
Blast Score: 215

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family domain; PDGF is a potent activator for cells of mesenchymal origin; PDGF-A and PDGF-B form AA and BB homodimers and an AB heterodimer; VEGF is a potent mitogen in embryonic and ...

pfam04692
Location:21 – 95
Blast Score: 285

PDGF_N; Platelet-derived growth factor, N terminal region

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

536895..559481, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

455023..477393, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

598080..651496, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	A37535.1	CAA02288.1
genomic	A37560.1	CAA02293.1
genomic	A41773.1	CAA02624.1
genomic	AC147651.4 (25853..48439)	None
genomic	AF085245.1	None
genomic	AJ238420.1	CAB59509.1
genomic	CH236966.1 (455444..481531)	None
genomic	CH471144.1	EAW87160.1
		EAW87161.1
		EAW87162.1
genomic	CQ858324.1	CAH23423.1
genomic	CS172381.1	CAJ32894.1
genomic	CS172825.1	CAJ32906.1
genomic	CS367416.1	CAL32765.1
genomic	HC040701.1	CBH30541.1
genomic	M19984.1	AAA60046.1
		AAA60047.1
genomic	M19985.1	AAA60046.1
		AAA60047.1
genomic	M19986.1	AAA60046.1
		AAA60047.1
genomic	M19987.1	AAA60046.1
		AAA60047.1
genomic	M19988.1	AAA60046.1
genomic	M19989.1	AAA60047.1
genomic	M20488.1	AAA60045.1
genomic	M20489.1	AAA60045.1
genomic	M20490.1	AAA60045.1
genomic	M20491.1	AAA60045.1
genomic	M20492.1	AAA60045.1
genomic	M20493.1	AAA60045.1
genomic	M20494.1	AAA60045.1
genomic	M21571.1	AAA60046.1
		AAA60047.1
genomic	M59423.1	AAN76486.1
genomic	M83575.1	None
genomic	S50869.1	AAD13863.2
		AAD13864.2
genomic	S51624.1	AAK29998.1
genomic	S62078.1	AAB26566.1
mRNA	AB451309.1	BAG70123.1
mRNA	AB451439.1	BAG70253.1
mRNA	AK292217.1	BAF84906.1
mRNA	AU118732.1	None
mRNA	BC109246.1	AAI09247.1
mRNA	BE336646.1	None
mRNA	BQ001096.1	None
mRNA	BQ002008.1	None
mRNA	X03795.1	CAA27421.1
mRNA	X06374.1	CAA29677.1
mRNA	A09204.1	CAA00830.1
other-genetic	BC141593.1	AAI41594.1
other-genetic	BC146594.1	AAI46595.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P04085.1	GenPept	UniProtKB/Swiss-Prot:P04085
Q32M96	GenPept	UniProtKB/TrEMBL:Q32M96
Q9BQF3	GenPept	UniProtKB/TrEMBL:Q9BQF3
Q9UGN0	GenPept	UniProtKB/TrEMBL:Q9UGN0