PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)

2017-04-01  

Identity

HGNC
PSTPIP1
LOCATION
15q24.3
LOCUSID
9051
ALIAS
CD2BP1,CD2BP1L,CD2BP1S,H-PIP,PAPAS,PSTPIP

Other Information

Locus ID:

NCBI: 9051
MIM: 606347
HGNC: 9580
Ensembl: ENSG00000140368

Variants:

dbSNP: 9051
ClinVar: 9051
TCGA: ENSG00000140368
COSMIC: PSTPIP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140368ENST00000379595J3KPG6
ENSG00000140368ENST00000558012O43586
ENSG00000140368ENST00000558012A0A0S2Z5P3
ENSG00000140368ENST00000558407H0YLM9
ENSG00000140368ENST00000558870H0YKF1
ENSG00000140368ENST00000559161H0YLW8
ENSG00000140368ENST00000559295O43586
ENSG00000140368ENST00000559750B4E1Z9
ENSG00000140368ENST00000559785H0YKY3
ENSG00000140368ENST00000559856H0YLX8
ENSG00000140368ENST00000559859H0YLI2
ENSG00000140368ENST00000560223H0YNR2
ENSG00000140368ENST00000560796H0YNS1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathwaysREACTOMER-HSA-168643
InflammasomesREACTOMER-HSA-622312
The NLRP3 inflammasomeREACTOMER-HSA-844456

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
145950242003Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.96
179642612007Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.86
119718772002Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
125309832003The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse.52
280396082017HPIP promotes epithelial-mesenchymal transition and cisplatin resistance in ovarian cancer cells through PI3K/AKT pathway activation.17
184804022008The PCH family member proline-serine-threonine phosphatase-interacting protein 1 targets to the leukocyte uropod and regulates directed cell migration.15
185763902008Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.15
185763902008Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis.15
244213272014The F-BAR protein PSTPIP1 controls extracellular matrix degradation and filopodia formation in macrophages.15

Citation

Dessen P

PSTPIP1 (proline-serine-threonine phosphatase interacting protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56759/pstpip1