PDGFA platelet derived growth factor subunit A [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDGFAprovided by HGNC
Official Full Name: platelet derived growth factor subunit Aprovided by HGNC
Primary source: HGNC:HGNC:8799
See related: Ensembl:ENSG00000197461 MIM:173430; AllianceGenome:HGNC:8799
Gene type: protein coding
RefSeq status: VALIDATED
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: This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Expression: Ubiquitous expression in lung (RPKM 8.8), placenta (RPKM 8.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (497258..520700, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (598210..621677, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (536895..560337, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Title: Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
PDGF-AA activates AKT and ERK signaling for testicular interstitial Leydig cell growth via primary cilia.
Title: PDGF-AA activates AKT and ERK signaling for testicular interstitial Leydig cell growth via primary cilia.
PDGFA-associated protein 1 is a novel target of c-Myc and contributes to colorectal cancer initiation and progression.
Title: PDGFA-associated protein 1 is a novel target of c-Myc and contributes to colorectal cancer initiation and progression.
PDGF regulates guanylate cyclase expression and cGMP signaling in vascular smooth muscle.
Title: PDGF regulates guanylate cyclase expression and cGMP signaling in vascular smooth muscle.
EPHA2 mediates PDGFA activity and functions together with PDGFRA as prognostic marker and therapeutic target in glioblastoma.
Title: EPHA2 mediates PDGFA activity and functions together with PDGFRA as prognostic marker and therapeutic target in glioblastoma.
Lyophilised Platelet-Rich Fibrin: Physical and Biological Characterisation.
Title: Lyophilised Platelet-Rich Fibrin: Physical and Biological Characterisation.
Platelet-Derived Growth Factor Predicts Vulnerable Plaque in Patients with Non-ST Elevation Acute Coronary Syndrome.
Title: Platelet-Derived Growth Factor Predicts Vulnerable Plaque in Patients with Non-ST Elevation Acute Coronary Syndrome.
High expression of PDGFA predicts poor prognosis of esophageal squamous cell carcinoma.
Title: High expression of PDGFA predicts poor prognosis of esophageal squamous cell carcinoma.
HaCaTconditioned medium supplemented with the small molecule inhibitors SB431542 and CHIR99021 and the growth factor PDGFAA prevents the dedifferentiation of dermal papilla cells in vitro.
Title: HaCaT‑conditioned medium supplemented with the small molecule inhibitors SB431542 and CHIR99021 and the growth factor PDGF‑AA prevents the dedifferentiation of dermal papilla cells in vitro.
PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children.
Title: PDGFA gene rs9690350 polymorphism increases biliary atresia risk in Chinese children.

Submit: New GeneRIF Correction See all GeneRIFs (127)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat upregulates members of the PDGF/VEGF growth factor family (PDGFA, VEGFA,VEGFB, VEGFC) in mammary epithelial cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62094 (e-PCR)
- UniSTS:139111

G10519 (e-PCR)
- UniSTS:24973

PDGFA (e-PCR)
- UniSTS:11674

PRKAR1B (e-PCR)
- UniSTS:278958

SGC35032 (e-PCR)
- UniSTS:61872

SHGC-130833 (e-PCR)
- UniSTS:184512

PRKAR1B (e-PCR)
- UniSTS:75207

D7S540E (e-PCR)
- UniSTS:147423

D7S2563 (e-PCR), detects polymorphism
- UniSTS:50658

D7S2747 (e-PCR)
- UniSTS:33271

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables collagen binding	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IDA Inferred from Direct Assay more info	PubMed
enables platelet-derived growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables platelet-derived growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables platelet-derived growth factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables platelet-derived growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in animal organ morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell activation	TAS Traceable Author Statement more info	PubMed
involved_in cell projection assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in embryonic lung development	ISS Inferred from Sequence or Structural Similarity more info
involved_in hair follicle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phosphatidylinositol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in platelet-derived growth factor receptor-alpha signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mesenchymal cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein autophosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in regulation of glomerular mesangial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in response to wounding	IDA Inferred from Direct Assay more info	PubMed
involved_in skin development	ISS Inferred from Sequence or Structural Similarity more info
involved_in wound healing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus	ISS Inferred from Sequence or Structural Similarity more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
part_of platelet-derived growth factor complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: platelet-derived growth factor subunit A

Names: PDGF A-chain; PDGF subunit A; platelet-derived growth factor A-chain; platelet-derived growth factor alpha chain; platelet-derived growth factor alpha polypeptide

NCBI Reference Sequences (RefSeq)

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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

4999..27587

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001395363.1 → NP_001382292.1 platelet-derived growth factor subunit A isoform 3

Status: VALIDATED

Source sequence(s)

AC147651

Conserved Domains (2) summary

smart00141
Location:139 → 226

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:96 → 140

PDGF_N; Platelet-derived growth factor, N terminal region
NM_001395364.1 → NP_001382293.1 platelet-derived growth factor subunit A isoform 4

Status: VALIDATED

Source sequence(s)

AC147651

UniProtKB/TrEMBL

H7BYW6

Conserved Domains (1) summary

smart00141
Location:107 → 194

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family
NM_001395365.1 → NP_001382294.1 platelet-derived growth factor subunit A isoform 5

Status: VALIDATED

Source sequence(s)

AC147651

UniProtKB/TrEMBL

H7BYW6

Conserved Domains (1) summary

smart00141
Location:97 → 184

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family
NM_001395366.1 → NP_001382295.1 platelet-derived growth factor subunit A isoform 2 preproprotein

Status: VALIDATED

Source sequence(s)

AC147651

Consensus CDS

CCDS47524.1

UniProtKB/TrEMBL

A8K852

Conserved Domains (2) summary

smart00141
Location:94 → 181

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:21 → 95

PDGF_N; Platelet-derived growth factor, N terminal region
NM_002607.6 → NP_002598.4 platelet-derived growth factor subunit A isoform 1 preproprotein

See identical proteins and their annotated locations for NP_002598.4

Status: VALIDATED

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

Consensus CDS

CCDS34578.1

UniProtKB/Swiss-Prot

B5BU73, P04085

UniProtKB/TrEMBL

A8K852

Related

ENSP00000346508.5, ENST00000354513.9

Conserved Domains (2) summary

smart00141
Location:94 → 181

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:21 → 95

PDGF_N; Platelet-derived growth factor, N terminal region
NM_033023.5 → NP_148983.1 platelet-derived growth factor subunit A isoform 2 preproprotein

See identical proteins and their annotated locations for NP_148983.1

Status: VALIDATED

Description

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

Source sequence(s)

AC147651

Consensus CDS

CCDS47524.1

UniProtKB/TrEMBL

A8K852

Related

ENSP00000383889.3, ENST00000402802.8

Conserved Domains (2) summary

smart00141
Location:94 → 181

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:21 → 95

PDGF_N; Platelet-derived growth factor, N terminal region

RNA

NR_172526.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC147651
NR_172527.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC147651

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

497258..520700 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047420456.1 → XP_047276412.1 platelet-derived growth factor subunit A isoform X6
XM_047420455.1 → XP_047276411.1 platelet-derived growth factor subunit A isoform X4
XM_011515415.2 → XP_011513717.1 platelet-derived growth factor subunit A isoform X1

Conserved Domains (2) summary

smart00141
Location:139 → 226

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:101 → 140

PDGF_N; Platelet-derived growth factor, N terminal region
XM_011515418.2 → XP_011513720.1 platelet-derived growth factor subunit A isoform X3

UniProtKB/TrEMBL

A8K852

Conserved Domains (2) summary

smart00141
Location:132 → 219

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:59 → 133

PDGF_N; Platelet-derived growth factor, N terminal region
XM_011515416.2 → XP_011513718.1 platelet-derived growth factor subunit A isoform X2

UniProtKB/TrEMBL

A8K852

Conserved Domains (1) summary

smart00141
Location:132 → 219

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family
XM_047420457.1 → XP_047276413.1 platelet-derived growth factor subunit A isoform X7

UniProtKB/Swiss-Prot

B5BU73, P04085
XM_017012289.2 → XP_016867778.1 platelet-derived growth factor subunit A isoform X5

UniProtKB/TrEMBL

A8K852
XM_047420458.1 → XP_047276414.1 platelet-derived growth factor subunit A isoform X9
XM_011515419.4 → XP_011513721.1 platelet-derived growth factor subunit A isoform X8

UniProtKB/TrEMBL

A8K852

Conserved Domains (2) summary

smart00141
Location:93 → 180

PDGF; Platelet-derived and vascular endothelial growth factors (PDGF, VEGF) family

pfam04692
Location:21 → 94

PDGF_N; Platelet-derived growth factor, N terminal region

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

598210..621677 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054358366.1 → XP_054214341.1 platelet-derived growth factor subunit A isoform X6
XM_054358364.1 → XP_054214339.1 platelet-derived growth factor subunit A isoform X4
XM_054358361.1 → XP_054214336.1 platelet-derived growth factor subunit A isoform X1
XM_054358363.1 → XP_054214338.1 platelet-derived growth factor subunit A isoform X3
XM_054358362.1 → XP_054214337.1 platelet-derived growth factor subunit A isoform X2
XM_054358367.1 → XP_054214342.1 platelet-derived growth factor subunit A isoform X7

UniProtKB/Swiss-Prot

B5BU73, P04085
XM_054358365.1 → XP_054214340.1 platelet-derived growth factor subunit A isoform X5
XM_054358369.1 → XP_054214344.1 platelet-derived growth factor subunit A isoform X9
XM_054358368.1 → XP_054214343.1 platelet-derived growth factor subunit A isoform X8