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

Gene

• Entrez ID: 9051
• Gene name: Proline-serine-threonine phosphatase interacting protein 1
• Gene symbol: PSTPIP1
• Synonyms (NCBI Gene): AICZC, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPA, PAPAS, PSTPIP
• Chromosome: 15
• Chromosome location: 15q24.3
• Summary: This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939089	G>A,C	Pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant
rs121908130	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201253322	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs201872851	C>T	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs370782742	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs553718554	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, missense variant
rs760819203	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs774164456	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs878855322	AG>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs886041107	G>A	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT642578	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT642577	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT642576	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT736438	hsa-miR-491-3p	qRT-PCR, Flow cytometry	33679688
MIRT642578	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT642577	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT642576	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT1271221	hsa-miR-3144-5p	CLIP-seq
MIRT1271222	hsa-miR-3191	CLIP-seq
MIRT1271223	hsa-miR-4488	CLIP-seq
MIRT1271224	hsa-miR-4652-5p	CLIP-seq
MIRT1271225	hsa-miR-4697-5p	CLIP-seq
MIRT1271226	hsa-miR-4731-5p	CLIP-seq
MIRT1271227	hsa-miR-4761-5p	CLIP-seq
MIRT1271228	hsa-miR-491-5p	CLIP-seq
MIRT1271229	hsa-miR-512-3p	CLIP-seq
MIRT1271230	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001931	Component	Uropod	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	9422760, 11971877, 16318909, 17964261, 18480402, 19807924, 21516116, 24407287, 25040622, 25416956, 25910212, 26871637, 32296183, 35152348
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	9857189
GO:0007165	Process	Signal transduction	TAS	9857189
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0032154	Component	Cleavage furrow	IEA
GO:0042802	Function	Identical protein binding	IPI	17964261, 35152348
GO:0042995	Component	Cell projection	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 606347
• HGNC: 9580
• e!Ensembl: ENSG00000140368

Protein

• UniProt ID: O43586
• Protein name: Proline-serine-threonine phosphatase-interacting protein 1 (PEST phosphatase-interacting protein 1) (CD2-binding protein 1) (H-PIP)
• Protein function: Involved in regulation of the actin cytoskeleton. May regulate WAS actin-bundling activity. Bridges the interaction between ABL1 and PTPN18 leading to ABL1 dephosphorylation. May play a role as a scaffold protein between PTPN12 and WAS and allow
• PDB: 2DIL, 7AAL, 7AAM, 7AAN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00611	FCH	21 → 93	Fes/CIP4, and EFC/F-BAR homology domain	Family
  PF00018	SH3_1	365 → 410	SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the peripheral blood leukocytes, granulocytes and monocytes, namely in T-cells and natural killer cells, and in spleen. Weakly expressed in the thymus, small intestine, lung and placenta. {ECO:0000269|PubMed:1459502
• Sequence:

  MMPQLQFKDAFWCRDFTAHTGYEVLLQRLLDGRKMCKDMEELLRQRAQAEERYGKELVQI
  ARKAGGQTEINSLRASFDSLKQQMENVGSSHIQLALTLREELRSLEEFRERQKEQRKKYE
  AVMDRVQKSKLSLYKKAMESKKTYEQKCRDADDAEQAFERISANGHQKQVEKSQNKARQC
  KDSATEAERVYRQSIAQLEKVRAEWEQEHRTTCEAFQLQEFDRLTILRNALWVHSNQLSM
  QCVKDDELYEEVRLTLEGCSIDADIDSFIQAKSTGTEPPAPVPYQNYYDREVTPLTSSPG
  IQPSCGMIKRFSGLLHGSPKTTSLAASAASTETLTPTPERNEGVYTAIAVQEIQGNPASP
  AQEYRALYDYTAQNPDELDLSAGDILEVILEGEDGWWTVERNGQRGFVPGSYLEKL

• Sequence length: 416

Pathways

KEGG:

NOD-like receptor signaling pathway

Reactome:

The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Behcet Syndrome	Behcet disease	rs774164456	N/A
Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	pyogenic arthritis-pyoderma gangrenosum-acne syndrome	rs28939089, rs121908130	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Autoinflammatory Disease	Autoinflammatory syndrome, autoinflammatory syndrome	N/A	N/A	ClinVar, GenCC
Diabetes	Type 2 diabetes mellitus or coronary artery disease (pleiotropy)	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acne Vulgaris	Associate	14595024, 24421327
Arthritis	Associate	14595024, 34492165, 35152348
Arthritis Juvenile	Associate	18576390
Arthropathy progressive pseudorheumatoid of childhood	Associate	31858543
Behcet Syndrome	Associate	28814775, 30808881
Cryopyrin Associated Periodic Syndromes	Associate	35383566
Familial Mediterranean Fever	Associate	14595024
Hearing Loss High Frequency	Associate	26025129
Hereditary Autoinflammatory Diseases	Associate	14595024, 18576390, 24421327, 26025129, 28814775, 30808881, 31286971, 33042144, 34399798, 34492165, 35152348, 36203570
Hidradenitis Suppurativa	Associate	37013170
hyperzincemia and hypercalprotectinemia	Associate	26025129, 31789267, 34399798, 34620178, 35152348, 36203570, 38259483
Immune System Diseases	Associate	35152348
Inflammation	Associate	26025129, 31789267, 36203570, 38259483
Lupus Erythematosus Systemic	Associate	35152348
Lymphatic Metastasis	Associate	31858543
Neoplasm Metastasis	Associate	31858543
Neoplasms	Associate	27626805
Non Muscle Invasive Bladder Neoplasms	Associate	27626805
Polydactyly Postaxial	Associate	34492165, 35152348
Prostatitis	Associate	35422809
Pyoderma Gangrenosum	Associate	14595024, 24421327, 34492165
Pyogenic arthritis pyoderma gangrenosum and acne	Associate	14595024, 17213252, 22161697, 24421327, 31443670, 34399798, 34492165, 37013170
Stomach Neoplasms	Associate	31858543
Triple Negative Breast Neoplasms	Associate	31248310
Wiskott Aldrich Syndrome	Associate	24421327