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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9051

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
Molecular Function GO Annotation Evidence Références 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 Références
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
Y2H
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
Y2H
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
FPS
35152348
Intra
PSTPIP1 O43586 PTPN22 Homo sapiens Q9Y2R2-1
ITC
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
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
Others PSTPIP1 NCBI