PSTPIP1 - proline-serine-threonine phosphatase interacting protein 1 Gene
Also Known as H-PIP; PAPAS; CD2BP1; PSTPIP; CD2BP1L; CD2BP1S
Species: Homo sapiens
About PSTPIP1
This gene has 20 transcripts (splice variants), 266 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in bone marrow (RPKM 17.6), spleen (RPKM 10.0) and 9 other tissues.
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 cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type Protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the Cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
PSTPIP1 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001321135.2 | NP_001308064.1 | proline-serine-threonine phosphatase-interacting protein 1 isoform 2 |
| NM_001321136.2 | NP_001308065.1 | proline-serine-threonine phosphatase-interacting protein 1 isoform 3 |
| NM_001321137.1 | NP_001308066.1 | proline-serine-threonine phosphatase-interacting protein 1 isoform 4 |
| NM_001411086.1 | NP_001398015.1 | proline-serine-threonine phosphatase-interacting protein 1 isoform 5 |
| NM_003978.5 | NP_003969.2 | proline-serine-threonine phosphatase-interacting protein 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
17964261 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9422760 | GOA |
PSTPIP1 Protein Structure
FCH: Fes/CIP4, and EFC/F-BAR homology domain (10 - 95)
SH3_9: Variant SH3 domain (366 - 414)
- 0
- 100
- 200
- 300
- 416 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
proline-serine-threonine phosphatase-interacting protein 1 |
|
PSTPIP1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PSTPIP1 | O43586 | RTP5 | Homo sapiens | Q14D33 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | RTP5 | Homo sapiens | Q14D33 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | RTP5 | Homo sapiens | Q14D33 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | TSGA10IP | Homo sapiens | Q3SY00 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | PNKP | Homo sapiens | Q96T60 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | PRPF31 | Homo sapiens | Q8WWY3 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN12 | Homo sapiens | Q05209 | 11971877 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN12 | Homo sapiens | Q05209 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | PRPF31 | Homo sapiens | Q8WWY3 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | PRPF31 | Homo sapiens | Q8WWY3 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN12 | Homo sapiens | Q05209 | 14707117 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN12 | Homo sapiens | Q05209 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | CD2 | Homo sapiens | P06729 | 9857189 | |
|
Intra
|
PSTPIP1 | O43586 | PRPF31 | Homo sapiens | Q8WWY3 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | CD2 | Homo sapiens | P06729 | 11971877 | |
|
Intra
|
PSTPIP1 | O43586 | PSTPIP1 | Homo sapiens | O43586 | 17964261 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN12 | Homo sapiens | Q05209 | 14707117 | |
|
Intra
|
PSTPIP1 | O43586 | BUB3 | Homo sapiens | O43684 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | HAPLN2 | Homo sapiens | Q9GZV7 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | PRR35 | Homo sapiens | P0CG20 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2 | 25040622 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2 | 25040622 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN18 | Homo sapiens | Q99952 | 9422760 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN18 | Homo sapiens | Q99952 | 9422760 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN18 | Homo sapiens | Q99952 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | ZC2HC1C | Homo sapiens | Q53FD0-2 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | IL16 | Homo sapiens | Q14005-2 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | MOS | Homo sapiens | P00540 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | EHHADH | Homo sapiens | Q08426 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | DHX40 | Homo sapiens | Q8IX18 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | KANK2 | Homo sapiens | Q63ZY3 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | ZNF175 | Homo sapiens | Q9Y473 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | ZNF175 | Homo sapiens | Q9Y473 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | ZNF175 | Homo sapiens | Q9Y473 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | ZNF408 | Homo sapiens | Q9H9D4 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | MCRS1 | Homo sapiens | Q96EZ8 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | RPL9 | Homo sapiens | P32969 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | SMARCD1 | Homo sapiens | Q96GM5 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | LSM4 | Homo sapiens | Q9Y4Z0 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | LSM4 | Homo sapiens | Q9Y4Z0 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | LSM4 | Homo sapiens | Q9Y4Z0 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | TPH1 | Homo sapiens | P17752 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | RNPS1 | Homo sapiens | Q15287 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | NCBP1 | Homo sapiens | Q09161 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | FASLG | Homo sapiens | P48023 | 16318909 | |
|
Intra
|
PSTPIP1 | O43586 | FASLG | Homo sapiens | P48023 | 19807924 | |
|
Intra
|
PSTPIP1 | O43586 | FASLG | Homo sapiens | P48023 | 16318909 | |
|
Intra
|
PSTPIP1 | O43586 | FASLG | Homo sapiens | P48023 | 16318909 | |
|
Intra
|
PSTPIP1 | O43586 | TULP3 | Homo sapiens | O75386 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | TULP3 | Homo sapiens | O75386 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | TULP3 | Homo sapiens | O75386 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | CWF19L2 | Homo sapiens | Q2TBE0 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | FAM90A1 | Homo sapiens | Q86YD7 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | FAM90A1 | Homo sapiens | Q86YD7 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | FAM90A1 | Homo sapiens | Q86YD7 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2-1 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2-1 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2-1 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2-1 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | PTPN22 | Homo sapiens | Q9Y2R2-1 | 35152348 | |
|
Intra
|
PSTPIP1 | O43586 | HSF2BP | Homo sapiens | O75031 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | UBE2W | Homo sapiens | Q96B02 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | SPG7 | Homo sapiens | Q9UQ90 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | SPG7 | Homo sapiens | Q9UQ90 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | SDCBP | Homo sapiens | O00560 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | ZNF580 | Homo sapiens | Q9UK33 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | SH2D4A | Homo sapiens | Q9H788 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | HHEX | Homo sapiens | Q03014 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | SCNM1 | Homo sapiens | Q9BWG6 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | LIN37 | Homo sapiens | Q96GY3 | 32296183 | |
|
Intra
|
PSTPIP1 | O43586 | MEFV | Homo sapiens | O15553 | 17964261 | |
|
Intra
|
PSTPIP1 | O43586 | TRAF3IP3 | Homo sapiens | Q9Y228 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | TRAF3IP3 | Homo sapiens | Q9Y228 | 25416956 | |
|
Intra
|
PSTPIP1 | O43586 | TRAF3IP3 | Homo sapiens | Q9Y228 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
|
| Zinc, Elevated Plasma |
|
|
| Behcet Syndrome |
|
|
| Pyoderma Gangrenosum |
|
|
| Pyoderma |
|
|
| Acne |
|
|
| Familial Mediterranean Fever |
|
|
| Hidradenitis |
|
|
| Hidradenitis Suppurativa |
|
|
| Sebaceous Gland Disease |
|
|
| Wiskott-Aldrich Syndrome |
|
|
| Arthritis |
|
|
| Sapho Syndrome |
|
|
| Erysipeloid |
|
|
| Erythema Elevatum Diutinum |
|
|
| Mevalonic Aciduria |
|
|
| Chronic Recurrent Multifocal Osteomyelitis |
|
|
| Periodic Fever, Familial, Autosomal Dominant |
|
|
| Sweat Gland Disease |
|
|
| Familial Cold Autoinflammatory Syndrome |
|
|
| Miliaria Pustulosa |
|
|
| Ludwig'S Angina |
|
|
| Periostitis |
|
|
| Familial Cold Autoinflammatory Syndrome 4 |
|
|
| Neutrophilic Dermatosis, Acute Febrile |
|
|
| Cinca Syndrome |
|
|
| Muckle-Wells Syndrome |
|
|
| Retinal Lattice Degeneration |
|
|
| Blau Syndrome |
|
|
| Pityriasis Rubra Pilaris |
|
|
| Pustulosis Of Palm And Sole |
|
|
| Familial Behcet-Like Autoinflammatory Syndrome |
|
|
| Inflammatory Bowel Disease |
|
|
| Erysipelas |
|
|
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
|
| Peroxisomal Disease |
|
|
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | PSTPIP1 | VGNC | VGNC:33486 |
| Felis catus | PSTPIP1 | VGNC | VGNC:69130 |
| Mus musculus | PSTPIP1 | MGD | MGI:1321396 |
| Macaca mulatta | PSTPIP1 | VGNC | VGNC:76459 |
| Canis familiaris | PSTPIP1 | VGNC | VGNC:45127 |
| Rattus norvegicus | PSTPIP1 | RGD | RGD:1307557 |
| Others | PSTPIP1 | NCBI |