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

PSTPIP1 Protein Structure

FCH

SH3_9

0
100
200
300
416 a.a.

Protein Preferred Names

Protein Names

proline-serine-threonine phosphatase-interacting protein 1

CD2 antigen-binding protein 1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11345	PSTPIP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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