PPFIA1 (PTPRF interacting protein alpha 1)

2008-04-01  

Identity

HGNC
PPFIA1
LOCATION
11q13.3
LOCUSID
8500
ALIAS
LIP.1,LIP1,LIPRIN
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8500
MIM: 611054
HGNC: 9245
Ensembl: ENSG00000131626

Variants:

dbSNP: 8500
ClinVar: 8500
TCGA: ENSG00000131626
COSMIC: PPFIA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131626ENST00000253925Q13136
ENSG00000131626ENST00000389547Q13136
ENSG00000131626ENST00000526262H0YEF9
ENSG00000131626ENST00000526369H0YF15
ENSG00000131626ENST00000528750H0YDW2
ENSG00000131626ENST00000528853H0YDZ8
ENSG00000131626ENST00000530390H0YEK0
ENSG00000131626ENST00000530746E9PPF6
ENSG00000131626ENST00000530798H0YD72
ENSG00000131626ENST00000532024E9PID5
ENSG00000131626ENST00000532504E9PJZ7
ENSG00000131626ENST00000533894H0YD39
ENSG00000131626ENST00000638133A0A1B0GVT3
ENSG00000131626ENST00000644155A0A2R8Y7R9
ENSG00000131626ENST00000648755A0A3B3ITS2

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
129231772003Interaction of the ERC family of RIM-binding proteins with the liprin-alpha family of multidomain proteins.62
174199962007Liprinalpha1 degradation by calcium/calmodulin-dependent protein kinase II regulates LAR receptor tyrosine phosphatase distribution and dendrite development.44
222950562012Genome wide association identifies PPFIA1 as a candidate gene for acute lung injury risk following major trauma.36
196900482009Liprin-alpha1 promotes cell spreading on the extracellular matrix by affecting the distribution of activated integrins.21
249824452014Liprin-α1, ERC1 and LL5 define polarized and dynamic structures that are implicated in cell migration.19
254929662014The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.17
220726772011The Liprin homology domain is essential for the homomeric interaction of SYD-2/Liprin-α protein in presynaptic assembly.15
278768012016PPFIA1 drives active α5β1 integrin recycling and controls fibronectin fibrillogenesis and vascular morphogenesis.13
181965922008Amplification and overexpression of PPFIA1, a putative 11q13 invasion suppressor gene, in head and neck squamous cell carcinoma.12
197877832010PPFIA1 and CCND1 are frequently coamplified in breast cancer.9

Citation

Dessen P

PPFIA1 (PTPRF interacting protein alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-04-01

Online version: http://atlasgeneticsoncology.org/gene/50099/ppfia1