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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Behcet disease	Pathogenic	rs774164456	RCV000274704
Hyperzincemia and hypercalprotectinemia	Pathogenic	rs28939089	RCV004777572
PSTPIP1-related disorder	Pathogenic	rs121908130	RCV003415651
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	Pathogenic	rs28939089, rs121908130	RCV000084063 RCV000004684 RCV000004685

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autoinflammatory syndrome	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs374682350, rs554161203, rs764658426, rs750823506, rs571529866, rs368685017, rs781437901, rs113386299, rs370745407, rs183441330, rs35860563, rs149195362, rs139552419, rs369835681, rs2152689079, rs1141040, rs774437204, rs757597315, rs1291828257, rs2152678775, rs751618284, rs2075560223, rs2152678710, rs927470089, rs2076390591, rs1263340623, rs1307593129, rs77026017, rs201572812, rs201253322, rs200771233, rs376128040, rs139362350, rs200796501, rs368838637, rs200363654, rs34618738, rs34240327, rs35538044, rs886041107, rs55909412, rs553718554, rs201872851, rs375950478, rs758911910, rs201582038, rs34908107, rs141227274, rs145344175, rs201186216, rs370782742, rs776576205, rs201535027, rs774530073, rs750572947, rs369113632, rs200188483, rs200018722, rs529402949, rs370404621, rs374204996, rs1441606629, rs777380464, rs369498554, rs541085532, rs374055726, rs528187669, rs1435290161, rs538042433, rs200998074, rs1397291808	RCV002264286 RCV002264304 RCV002264326 RCV002264344 RCV002264360 RCV002264382 RCV002264410 RCV002262738 RCV002262739 RCV002262740 RCV002262741 RCV002262742 RCV002262743 RCV002262744 RCV002264452 RCV002264477 RCV002264489 RCV002264490 RCV002264491 RCV002264492 RCV002264493 RCV002264494 RCV002264495 RCV002264496 RCV002264497 RCV002264498 RCV002264499 RCV002264500 RCV002262844 RCV002262846 RCV002262847 RCV002262845 RCV002262843 RCV002262853 RCV002262859 RCV002262854 RCV002262856 RCV002262887 RCV002262888 RCV002262886 RCV002262920 RCV002262995 RCV002262996 RCV002262997 RCV002262998 RCV002263000 RCV002263002 RCV002263004 RCV002263005 RCV002263006 RCV002263003 RCV002262999 RCV002263001 RCV002263007 RCV002263678 RCV002263702 RCV002263716 RCV002263717 RCV002263718 RCV002263879 RCV002263937 RCV002263966 RCV002264008 RCV002264012 RCV002264023 RCV002264067 RCV002264085 RCV002264105 RCV002264130 RCV002264193 RCV002264241 RCV002264256
Cervical cancer	Benign	rs192912170	RCV005912287
Cholangiocarcinoma	Benign	rs12903227, rs192912170	RCV005918486 RCV005912289
Familial cancer of breast	Benign	rs192912170	RCV005912286
Gastric cancer	Benign	rs3935339	RCV005918617
Lung cancer	Benign	rs192912170	RCV005912290
Malignant lymphoma, large B-cell, diffuse	Benign	rs12903227, rs3935339	RCV005918485 RCV005918616
Ovarian serous cystadenocarcinoma	Benign	rs192912170	RCV005912288

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