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
366921322023Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.0
370131702023Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.0
376287062023PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.0
366921322023Detection of a rare variant in PSTPIP1 through three generations in a family with an initial diagnosis of FMF/MKD-overlapping phenotype.0
370131702023Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa.0
376287062023PSTPIP1-Associated Myeloid-Related Proteinemia Inflammatory (PAMI) Syndrome: A Systematic Review.0
344921652022Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.12
347679282022A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells.3
362035702022Strong inflammatory signatures in the neutrophils of PAMI syndrome.6
344921652022Excess Serum Interleukin-18 Distinguishes Patients With Pathogenic Mutations in PSTPIP1.12
347679282022A reciprocal feedback loop between HIF-1α and HPIP controls phenotypic plasticity in breast cancer cells.3
362035702022Strong inflammatory signatures in the neutrophils of PAMI syndrome.6
332187162021Phenotypic Associations of PSTPIP1 Sequence Variants in PSTPIP1-Associated Autoinflammatory Diseases.7
333385352021HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.8
334588722021Rare cases of PAMI syndrome in both father and son with the same missense mutation in PSTPIP1 gene and literature review.4

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