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

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9051
Gene name Gene Name - the full gene name approved by the HGNC.
Proline-serine-threonine phosphatase interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSTPIP1
Synonyms (NCBI Gene) Gene synonyms aliases
AICZC, CD2BP1, CD2BP1L, CD2BP1S, H-PIP, PAPA, PAPAS, PSTPIP
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AICZC, PAPA
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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-PCR, Flow cytometry 33679688
MIRT642578 hsa-miR-4713-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0001931 Component Uropod IEA
GO:0005515 Function Protein binding IPI 9422760, 11971877, 16318909, 17964261, 19807924, 21516116, 24407287, 25040622, 25416956, 25910212, 26871637, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606347 9580 ENSG00000140368
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  NOD-like receptor signaling pathway   The NLRP3 inflammasome
Purinergic signaling in leishmaniasis infection
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Arthritis Arthritis rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)		 26025129
Behcet syndrome Behcet Syndrome rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease ClinVar
Autoinflammatory Disease autoinflammatory syndrome GenCC
Diabetes Diabetes GWAS
Rheumatoid arthritis Rheumatoid arthritis GWAS
Show/Hide Text Mining Associations (25)
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