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

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Behcet disease	Pathogenic	rs774164456	RCV000274704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperzincemia and hypercalprotectinemia	Pathogenic	rs28939089	RCV004777572	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PSTPIP1-related disorder	Pathogenic	rs121908130	RCV003415651	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pathogenic	rs28939089, rs121908130	RCV000084063 RCV000004684 RCV000004685	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoinflammatory syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOINFLAMMATORY SYNDROME WITH CYTOPENIA, HYPERZINCEMIA, AND HYPERCALPROTECTINEMIA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAPA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PYOGENIC ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PYOGENIC ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	14595024, 34492165, 35152348	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	18576390	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Suppurative	Suppurative arthritis	BEFREE	16724804, 23293022, 24960411		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	25040622		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	BEFREE	11971877, 14595024, 21790734, 26025129		★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	26025129		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	23633568, 28814775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet disease	Pubtator	28814775, 30808881	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Behcet Syndrome	Behcet Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME	Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	BEFREE	25683018		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19731031		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	17213252		★☆☆☆☆ Found in Text Mining only
Deficiency of mevalonate kinase	Deficiency Of Mevalonate Kinase	BEFREE	17213252		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	23293022		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Familial mediterranean fever	Pubtator	14595024	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Autoinflammatory Disease	BEFREE	18576390		★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Hidradenitis suppurativa	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperzincemia and Hypercalprotectinemia	Hyperzincemia And Hypercalprotectinemia	ORPHANET_DG	26025129		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperzincemia and hypercalprotectinemia	Hyperzincemia And Hypercalprotectinemia	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immune System Diseases	Immune system disease	Pubtator	35152348	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	11971877		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	11971877		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	23293022		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	18576390		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	30198636		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30920025		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	35152348	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31858543	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30920025		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30920025		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	30198636		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Polydactyly	Pubtator	34492165, 35152348	Associate	★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly type A	Polydactyly	BEFREE	14595024		★☆☆☆☆ Found in Text Mining only
Pyoderma	Pyoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	14595024, 24421327, 34492165	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	15916580, 16724804, 21790734, 25683018		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	CTD_human_DG	27106250		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pyogenic arthritis pyoderma gangrenosum and acne	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pubtator	14595024, 17213252, 22161697, 24421327, 31443670, 34399798, 34492165, 37013170	Associate	★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	11971877, 14595024, 15324736, 17213252, 17964261, 18347298, 19290936, 22161697, 23293022, 24960411, 25040622, 25845478, 26025129, 27187378, 27464597, 30225645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	UNIPROT_DG	11971877, 14595024, 22161697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	CLINVAR_DG	16527883, 20506269, 22161697, 22513199, 25845478, 26025129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	GENOMICS_ENGLAND_DG	25501066, 26025129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	CTD_human_DG	27106250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11971877, 27184502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	11971877		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	31099126		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31858543	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31248310	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25683018		★☆☆☆☆ Found in Text Mining only