1. Gene
  2. PSTPIP1 - proline-serine-threonine phosphatase interacting protein 1 Gene

PSTPIP1 - proline-serine-threonine phosphatase interacting protein 1 Gene

Homo sapiens

Also known as H-PIP; PAPAS; CD2BP1; PSTPIP; CD2BP1L; CD2BP1S

Gene ID: 9051 | Gene type: protein coding

About PSTPIP1

Cytogenetic location: 15q24.3 Genomic coordinates (GRCh38): 15:76,994,680-77,037,475 (from NCBI)

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
17964261 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9422760 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PSTPIP1 Protein Structure

FCH

FCH: Fes/CIP4, and EFC/F-BAR homology domain (10 - 95)

SH3_9

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

CD2 antigen-binding protein 1

PSTPIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra PSTPIP1 O43586 RTP5 Homo sapiens Q14D33
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 RTP5 Homo sapiens Q14D33
Validated Y2H
25416956
Intra PSTPIP1 O43586 RTP5 Homo sapiens Q14D33
Validated Y2H
32296183
Intra PSTPIP1 O43586 TSGA10IP Homo sapiens Q3SY00
Validated Y2H
32296183
Intra PSTPIP1 O43586 PNKP Homo sapiens Q96T60
Validated Y2H
32296183
Intra PSTPIP1 O43586 PRPF31 Homo sapiens Q8WWY3
Validated Y2H
25416956
Intra PSTPIP1 O43586 PTPN12 Homo sapiens Q05209
Y2H
11971877
Intra PSTPIP1 O43586 PTPN12 Homo sapiens Q05209
Anti Tag CoIP
35152348
Intra PSTPIP1 O43586 PRPF31 Homo sapiens Q8WWY3
Validated Y2H
32296183
Intra PSTPIP1 O43586 PRPF31 Homo sapiens Q8WWY3
Y2H Array
25416956
Intra PSTPIP1 O43586 PTPN12 Homo sapiens Q05209
Imaging
14707117
Intra PSTPIP1 O43586 PTPN12 Homo sapiens Q05209
Validated Y2H
32296183
Intra PSTPIP1 O43586 CD2 Homo sapiens P06729
Pull Down
9857189
Intra PSTPIP1 O43586 PRPF31 Homo sapiens Q8WWY3
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 CD2 Homo sapiens P06729
Y2H
11971877
Intra PSTPIP1 O43586 PSTPIP1 Homo sapiens O43586
Anti Tag CoIP
17964261
Intra PSTPIP1 O43586 PTPN12 Homo sapiens Q05209
Anti Bait CoIP
14707117
Intra PSTPIP1 O43586 BUB3 Homo sapiens O43684
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 HAPLN2 Homo sapiens Q9GZV7
Validated Y2H
32296183
Intra PSTPIP1 O43586 PRR35 Homo sapiens P0CG20
Validated Y2H
32296183
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2
Pull Down
25040622
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2
Anti Bait CoIP
25040622
Intra PSTPIP1 O43586 PTPN18 Homo sapiens Q99952
Anti Tag CoIP
9422760
Intra PSTPIP1 O43586 PTPN18 Homo sapiens Q99952
Pull Down
9422760
Intra PSTPIP1 O43586 PTPN18 Homo sapiens Q99952
Anti Tag CoIP
35152348
Intra PSTPIP1 O43586 ZC2HC1C Homo sapiens Q53FD0-2
Validated Y2H
32296183
Intra PSTPIP1 O43586 IL16 Homo sapiens Q14005-2
Validated Y2H
32296183
Intra PSTPIP1 O43586 MOS Homo sapiens P00540
Validated Y2H
32296183
Intra PSTPIP1 O43586 EHHADH Homo sapiens Q08426
Validated Y2H
32296183
Intra PSTPIP1 O43586 DHX40 Homo sapiens Q8IX18
Validated Y2H
32296183
Intra PSTPIP1 O43586 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
Intra PSTPIP1 O43586 ZNF175 Homo sapiens Q9Y473
Validated Y2H
25416956
Intra PSTPIP1 O43586 ZNF175 Homo sapiens Q9Y473
Y2H Array
25416956
Intra PSTPIP1 O43586 ZNF175 Homo sapiens Q9Y473
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 ZNF408 Homo sapiens Q9H9D4
Validated Y2H
32296183
Intra PSTPIP1 O43586 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
Intra PSTPIP1 O43586 RPL9 Homo sapiens P32969
Validated Y2H
32296183
Intra PSTPIP1 O43586 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra PSTPIP1 O43586 LSM4 Homo sapiens Q9Y4Z0
Validated Y2H
32296183
Intra PSTPIP1 O43586 LSM4 Homo sapiens Q9Y4Z0
Validated Y2H
25416956
Intra PSTPIP1 O43586 LSM4 Homo sapiens Q9Y4Z0
Y2H Array
25416956
Intra PSTPIP1 O43586 TPH1 Homo sapiens P17752
Validated Y2H
32296183
Intra PSTPIP1 O43586 RNPS1 Homo sapiens Q15287
Validated Y2H
32296183
Intra PSTPIP1 O43586 NCBP1 Homo sapiens Q09161
Validated Y2H
32296183
Intra PSTPIP1 O43586 FASLG Homo sapiens P48023
Anti Bait CoIP
16318909
Intra PSTPIP1 O43586 FASLG Homo sapiens P48023
Phage Display
19807924
Intra PSTPIP1 O43586 FASLG Homo sapiens P48023
Anti Tag CoIP
16318909
Intra PSTPIP1 O43586 FASLG Homo sapiens P48023
Pull Down
16318909
Intra PSTPIP1 O43586 TULP3 Homo sapiens O75386
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 TULP3 Homo sapiens O75386
Validated Y2H
25416956
Intra PSTPIP1 O43586 TULP3 Homo sapiens O75386
Validated Y2H
32296183
Intra PSTPIP1 O43586 CWF19L2 Homo sapiens Q2TBE0
Validated Y2H
32296183
Intra PSTPIP1 O43586 FAM90A1 Homo sapiens Q86YD7
Y2H Array
25416956
Intra PSTPIP1 O43586 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra PSTPIP1 O43586 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
25416956
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
Confocal
35152348
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
Anti Tag CoIP
35152348
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
X-Ray Diffraction
35152348
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
FPS
35152348
Intra PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
ITC
35152348
Intra PSTPIP1 O43586 HSF2BP Homo sapiens O75031
Validated Y2H
32296183
Intra PSTPIP1 O43586 UBE2W Homo sapiens Q96B02
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 SPG7 Homo sapiens Q9UQ90
Validated Y2H
25416956
Intra PSTPIP1 O43586 SPG7 Homo sapiens Q9UQ90
Y2H Array
25416956
Intra PSTPIP1 O43586 SDCBP Homo sapiens O00560
Validated Y2H
25416956
Intra PSTPIP1 O43586 ZNF580 Homo sapiens Q9UK33
Validated Y2H
32296183
Intra PSTPIP1 O43586 SH2D4A Homo sapiens Q9H788
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 HHEX Homo sapiens Q03014
Validated Y2H
32296183
Intra PSTPIP1 O43586 SCNM1 Homo sapiens Q9BWG6
Validated Y2H
32296183
Intra PSTPIP1 O43586 LIN37 Homo sapiens Q96GY3
Validated Y2H
32296183
Intra PSTPIP1 O43586 MEFV Homo sapiens O15553
Anti Bait CoIP
17964261
Intra PSTPIP1 O43586 TRAF3IP3 Homo sapiens Q9Y228
Y2H Prey Pooling
25416956
Intra PSTPIP1 O43586 TRAF3IP3 Homo sapiens Q9Y228
Validated Y2H
25416956
Intra PSTPIP1 O43586 TRAF3IP3 Homo sapiens Q9Y228
Y2H Array
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome

Fra

Familial Recurrent Arthritis

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

PAPAS

Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome

Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Zinc, Elevated Plasma

Albumin Binding Of Zinc, Elevated

Hyperzincemia, Familial Dysalbuminemic

Hyperzincemia And Hypercalprotectinemia

Hz/Hc

Pami Syndrome

Pstpip1-Associated Myeloid-Related Proteinemia Inflammatory Syndrome

Behcet Syndrome

Behcet Disease

Behcet'S Syndrome

Behcet'S Disease

Behçet Disease

Bd

Adamantiades-Behcet Disease

Triple Symptom Complex

Behçet'S Disease

Behet'S Syndrome

Bd Syndrome

Behçet Syndrome

Behçet'S Syndrome

Behcet Triple Symptom Complex

Malignant Aphthosis

Old Silk Route Disease

Adamantiades-Behçet Disease

Pyoderma Gangrenosum

Phagedenic Pyoderma

Phagedena Geometric

Pyoderma
Acne

Acne Vulgaris

Acne Varioliformis

Frontalis Acne

Familial Mediterranean Fever

Periodic Fever Syndrome

FMF

Benign Paroxysmal Peritonitis

Periodic Disease

Recurrent Polyserositis

Familial Paroxysmal Polyserositis

Periodic Fever

Familial Mediterranean Fever, Autosomal Recessive

Familial Mediterranean Fever, Ar

Polyserositis, Recurrent

Polyserositis, Familial Paroxysmal

Periodic Peritonitis

Mef

Reimann Periodic Disease

Siegal-Cattan-Mamou Disease

Wolff Periodic Disease

Benign Recurrent Polyserositis

Mediterranean Fever, Familial

ARFMF

Autosomal Recessive Familial Mediterranean Fever

Fever, Mediterranean, Familial, Autosomal Recessive

Hereditary Autoinflammatory Diseases

Fmf - [Familial Mediterranean Fever]

Periodic Polyserositis

Periodic Familial Polyserositis

Periodic Familial Peritonitis

Paroxysmal Polyserositis

Hereditary Amyloid Nephropathy

Familial Recurrent Polyserositis

Familial Non-Neuropathic Amyloidosis

Armenian Disease

Riemann Periodic Disease

Siegal Cattan Mamou Disease

Hidradenitis

Hydradenitis

Hidradenitis Suppurativa

Acne Inversa

Suppurative Hidradenitis

Acne Inversa, Familial

Apocrinitis

Hidradenitides, Suppurative

Hidradenitis, Suppurative

Suppurative Hidradenitides

Inverse Acne

Sebaceous Gland Disease

Sebaceous Gland Anomaly

Sebaceous Gland Diseases

Wiskott-Aldrich Syndrome

WAS

Eczema-Thrombocytopenia-Immunodeficiency Syndrome

Immunodeficiency 2

Aldrich Syndrome

Imd2

Wiskott-Aldrich Syndrome 1

Was1

Wiskott Syndrome

Wiskott Aldrich Syndrome

Eczema Thrombocytopenia Immunodeficiency Syndrome

Imd 2

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Sapho Syndrome

Acquired Hyperostosis Syndrome

Synovitis, Acne, Pustulosis Palmaris, Hyperostosis, Osteomyelitis Syndrome

Synovitis Acne Pustulosis Hyperostosis Osteitis

Synovitis, Acne, Pustlosis, Hyperostosis, And Osteomyelitis

Synovitis-Acne-Pustulosis-Hyperostosis-Osteitis Syndrome

Synovitis, Acne, Pustulosis, Hyperostosis, And Osteitis Syndrome

Pustulo-Psoriatic Hyperostotic Spondylarthritis

Sapho - [Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis] Syndrome

Erysipeloid

Infection Due To Erysipelothrix Rhusiopathiae

Erysipelothrix Infection

Erythema Elevatum Diutinum
Mevalonic Aciduria

Mevalonate Kinase Deficiency

Mevalonicaciduria

Hyperimmunoglobulin D With Periodic Fever

MEVA

Complete Mevalonate Kinase Deficiency

Mva

Hyperimmunoglobulinemia D

Hyper Igd Syndrome

Periodic Fever, Dutch Type

Mkd

Aciduria, Mevalonic

Deficiency Of Mevalonate Kinase

Chronic Recurrent Multifocal Osteomyelitis

Chronic Multifocal Osteomyelitis

CRMO

Cmo

Cno/Crmo

Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis

Osteomyelitis, Chronic Multifocal

Multifocal Osteomyelitis, Chronic

Chronic Osteomyelitis

Chronic Multifocal Osteomyelitis, Unspecified Site

Crmo - [Chronic Multifocal Osteomyelitis]

Chronic Osteomyelitis With Draining Sinus, Unspecified Site

Bone Fistula With Chronic Osteomyelitis

Periodic Fever, Familial, Autosomal Dominant

Familial Hibernian Fever

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome

Traps

FPF

Tnf Receptor-Associated Periodic Fever Syndrome

Hibernian Fever, Familial

Fhf

Tnf Receptor-Associated Periodic Syndrome

Autosomal Dominant Familial Periodic Fever

Periodic Fever, Familial

Tnf Receptor 1-Associated Periodic Syndrome

Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome

Familial Periodic Fever

Traps Syndrome

Tnf Receptor Associated Periodic Syndrome

Caledonian Fever

Fever, Periodic, Familial

Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome

Sweat Gland Disease

Sweat Gland Diseases

Familial Cold Autoinflammatory Syndrome

Familial Cold Urticaria

Fcas

Familial Polymorphous Cold Eruption

Fcu

Cold Hypersensitivity

Miliaria Pustulosa
Ludwig'S Angina

Cellulitis Of Floor Of Mouth

Ludwig Angina

Periostitis
Familial Cold Autoinflammatory Syndrome 4

FCAS4

Nlrc4-Related Familial Cold Autoinflammatory Syndrome

Nlrc4-Related Familial Cold Urticaria

Autoinflammatory, Cold, Familial, Syndrome, Type 4

Neutrophilic Dermatosis, Acute Febrile

Sweet Syndrome

Acute Febrile Neutrophilic Dermatosis

Ss

AFND

Pyrin-Associated Autoinflammatory Disease

PAAND

Gomm-Button Disease

Sweet'S Syndrome

Gomm Button Disease

Sweets Syndrome

Acromelic Frontonasal Dysostosis

Sweet Disease

Cinca Syndrome

CINCA

Nomid

Cryopyrin-Associated Periodic Syndrome 3

Chronic Neurologic Cutaneous And Articular Syndrome

Multisystem Inflammatory Disease, Neonatal-Onset

Caps3

Chronic Infantile Neurological Cutaneous Articular Syndrome

Infantile-Onset Multisystem Inflammatory Disease

Iomid Syndrome

Neonatal-Onset Multisystem Inflammatory Disease

Nomid Syndrome

Prieur-Griscelli Syndrome

Neonatal Onset Multisystem Inflammatory Disease

Chronic Infantile Neurological, Cutaneous And Articular Syndrome

Iomid

Infantile Onset Multisystem Inflammatory Disease

Prieur Griscelli Syndrome

Chronic Infantile Neurological Cutaneous And Articular Syndrome

Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome

Chronic Infantile Neurologic Cutaneous And Articular Syndrome

Chronic Infantile Neurological, Cutaneous, And Articular Syndrome

Cryopyrin-Associated Periodic Syndromes

Muckle-Wells Syndrome

MWS

Urticaria-Deafness-Amyloidosis Syndrome

Uda Syndrome

Neutrophilic Urticaria

Urticaria, Deafness And Amyloidosis

Cryopyrin-Associated Periodic Syndrome 2

Caps2

Muckle Wells Syndrome

Urticaria-Deafness-Amyloidosis

Cryopyrin-Associated Periodic Syndromes

Retinal Lattice Degeneration

Palisade Degeneration Of Retina

Lattice Retinal Degeneration

Blau Syndrome

Arthrocutaneouveal Granulomatosis

Jabs Syndrome

BLAUS

Sarcoidosis, Early-Onset

Acug

Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial

Eos

Granulomatosis, Familial Juvenile Systemic

Granulomatosis, Familial, Blau Type

Familial Juvenile Systemic Granulomatosis

Early Onset Sarcoidosis

Synovitis Granulomatous With Uveitis And Cranial Neuropathies

Early-Onset Sarcoidosis

Familial Granulomatosis, Blau Type

Pediatric Granulomatous Arthritis

Familial Granulomatosis Blau Type

Familial Granulomatous Inflammatory Arthritis Dermatitis And Uveitis

Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies

Pityriasis Rubra Pilaris

PRP

Devergie'S Disease

Prp - [Pityriasis Rubra Pilaris]

Pustulosis Of Palm And Sole

Psoriasis

Acropustulosis

Palmoplantar Pustulosis

Pustular Psoriasis Of The Palms And/Or Soles

Pustulosis Of Palms And Soles

Acrodermatitis Continua Of Hallopeau

Generalized Pustular Psoriasis

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Erysipelas
Autoinflammation, Panniculitis, And Dermatosis Syndrome

Otulipenia

Otulin-Related Autoinflammatory Syndrome

AIPDS

Oras

Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome

Autoinflammation, Panniculitis And Dermatosis Syndrome

Otulin Deficiency

Peroxisomal Disease

Peroxisomal Disorder

Peroxisomal Disorders

Peroxisomal Defects

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Jacobs Syndrome

Arthropathy-Camptodactyly Syndrome

Pericarditis-Arthropathy-Camptodactyly Syndrome

Xyy Syndrome

Pac Syndrome

Cacp Syndrome

CACP

Fibrosing Serositis, Familial

Camptodactyly-Arthropathy-Pericarditis Syndrome

Cap Syndrome

47, Xyy Syndrome

47,Xyy Syndrome

Double Y Syndrome

Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome

Hypertrophic Synovitis, Congenital Familial

Congenital Familial Hypertrophic Synovitis

Xyy Karyotype

Y Disomy

Yy Syndrome

Familial Fibrosing Serositis

Disomy Y

Double Y

Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome

Arthropathy Camptodactyly Syndrome

Camptodactyly Arthropathy Pericarditis Syndrome

Pericarditis Arthropathy Camptodactyly Syndrome

Jacob'S Syndrome

47,Xyy

Cdags Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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