Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9051
Gene name	Proline-serine-threonine phosphatase interacting protein 1
Gene symbol	PSTPIP1
Synonyms (NCBI Gene)	AICZCCD2BP1CD2BP1LCD2BP1SH-PIPPAPAPAPASPSTPIP
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

Show/Hide all (10)

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

Show/Hide all (17)

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-PCRFlow 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

Show/Hide all (24)

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

MIM	HGNC	e!Ensembl
606347	9580	ENSG00000140368

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

Interactions

View interactions

	KEGG		Reactome
	NOD-like receptor signaling pathway		The NLRP3 inflammasome Purinergic signaling in leishmaniasis infection

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Acne Vulgaris	Associate	14595024, 24421327	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Associate	14595024, 34492165, 35152348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Associate	18576390	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthropathy progressive pseudorheumatoid of childhood	Associate	31858543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Associate	28814775, 30808881	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cryopyrin Associated Periodic Syndromes	Associate	35383566	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Mediterranean Fever	Associate	14595024	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss High Frequency	Associate	26025129	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autoinflammatory Diseases	Associate	14595024, 18576390, 24421327, 26025129, 28814775, 30808881, 31286971, 33042144, 34399798, 34492165, 35152348, 36203570	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidradenitis Suppurativa	Associate	37013170	★★★★★ ★☆☆☆☆ Found in Text Mining only
hyperzincemia and hypercalprotectinemia	Associate	26025129, 31789267, 34399798, 34620178, 35152348, 36203570, 38259483	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immune System Diseases	Associate	35152348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	26025129, 31789267, 36203570, 38259483	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	35152348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	31858543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	31858543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	27626805	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms	Associate	27626805	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly Postaxial	Associate	34492165, 35152348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatitis	Associate	35422809	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Associate	14595024, 24421327, 34492165	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyogenic arthritis pyoderma gangrenosum and acne	Associate	14595024, 17213252, 22161697, 24421327, 31443670, 34399798, 34492165, 37013170	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	31858543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	31248310	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wiskott Aldrich Syndrome	Associate	24421327	★★★★★ ★☆☆☆☆ Found in Text Mining only

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