PNP - purine nucleoside phosphorylase Gene

Also Known as NP; PUNP; PRO1837

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4860

About PNP

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,469,406-20,477,089 (from NCBI)

This gene has 11 transcripts (splice variants), 540 orthologues, 1 paralogue and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues.

Summary

This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside Phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

PNP Products (1)

mRNA Protein Name
NM_000270.4 NP_000261.2 purine nucleoside phosphorylase
Molecular Function GO Annotation Evidence Referencias Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
20212140 GOA
enables nucleoside binding IDA
IDA: Inferred from direct assay
9305962 GOA
enables phosphate ion binding IDA
IDA: Inferred from direct assay
18938130 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
enables purine nucleobase binding IDA
IDA: Inferred from direct assay
9305962 GOA
enables purine-nucleoside phosphorylase activity IDA
IDA: Inferred from direct assay
3029074 GOA
Biological Process GO Annotation Evidence Referencias Source
involved in IMP catabolic process IDA
IDA: Inferred from direct assay
6771276 GOA
involved in allantoin metabolic process IDA
IDA: Inferred from direct assay
6771276 GOA
involved in dAMP catabolic process IDA
IDA: Inferred from direct assay
6771276 GOA
involved in deoxyadenosine catabolic process IDA
IDA: Inferred from direct assay
6771276 GOA
involved in deoxyinosine catabolic process IDA
IDA: Inferred from direct assay
6771276 GOA
involved in immune response IMP
IMP: Inferred from mutant phenotype
16930574 GOA
acts upstream of or within inosine catabolic process IDA
IDA: Inferred from direct assay
16964310 GOA
involved in inosine catabolic process IDA
IDA: Inferred from direct assay
23438750 GOA
involved in nicotinamide riboside catabolic process IDA
IDA: Inferred from direct assay
19001417 GOA
involved in nucleobase-containing compound metabolic process IDA
IDA: Inferred from direct assay
3029074 GOA
involved in nucleotide biosynthetic process IGI
IGI: Inferred from genetic interaction
19001417 GOA
acts upstream of or within positive regulation of T cell proliferation IDA
IDA: Inferred from direct assay
16964310 GOA
acts upstream of or within positive regulation of alpha-beta T cell differentiation IDA
IDA: Inferred from direct assay
16964310 GOA
involved in positive regulation of interleukin-2 production IMP
IMP: Inferred from mutant phenotype
16930574 GOA
involved in purine-containing compound salvage IDA
IDA: Inferred from direct assay
18938130 GOA
involved in response to xenobiotic stimulus IMP
IMP: Inferred from mutant phenotype
15047506 GOA
acts upstream of or within urate biosynthetic process IDA
IDA: Inferred from direct assay
16964310 GOA
Cellular Component GO Annotation Evidence Referencias Source
located in cytoplasm IDA
IDA: Inferred from direct assay
3029074 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

PNP Protein Structure

PNP_UDP_1

PNP_UDP_1: Phosphorylase superfamily (27 - 275)

  • 0
  • 100
  • 200
  • 289 a.a.
Protein Preferred Names Protein Names

purine nucleoside phosphorylase

  • HEL-S-156an

PNP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
PNP P00491 SORL1 Homo sapiens Q92673 32814053
Intra
PNP P00491 SORL1 Homo sapiens Q92673 32814053
Intra
PNP P00491 SORL1 Homo sapiens Q92673 32814053
Intra
PNP P00491 PINK1 Homo sapiens Q9BXM7 32814053
Intra
PNP P00491 PINK1 Homo sapiens Q9BXM7 32814053
Intra
PNP P00491 PINK1 Homo sapiens Q9BXM7 32814053
Intra
PNP P00491 PNP Homo sapiens P00491 25502805
Intra
PNP P00491 PNP Homo sapiens P00491 32296183
Intra
PNP P00491 PNP Homo sapiens P00491 32296183
Intra
PNP P00491 PNP Homo sapiens P00491 20212140
Intra
PNP P00491 PNP Homo sapiens P00491 31515488
Intra
PNP P00491 PNP Homo sapiens P00491 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PNP Proteins

Referencia número Nombre del producto Accession Pureza
HY-P74665 Nucleoside phosphorylase/PNP Protein, Human (His) P00491 (M1-S289) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Purine Nucleoside Phosphorylase Deficiency
  • Purine-Nucleoside Phosphorylase Deficiency

  • Pnp Deficiency

  • Nucleoside Phosphorylase Deficiency

  • Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency

  • Deficiency Of Inosine Phosphorylase

  • Pnpase Deficiency

  • PNPD

Adenosine Deaminase Deficiency
  • Ada Deficiency

  • Ada-Scid

  • Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency

  • Adenosine Deaminase Deficient Severe Combined Immunodeficiency

  • Scid Due To Ada Deficiency

  • Severe Combined Immunodeficiency Due To Ada Deficiency

  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency

  • Ada

  • Scid Due To Adenosine Deaminase Deficiency

Lesch-Nyhan Syndrome
  • Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • LNS

  • Hprt Deficiency

  • Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency

  • X-Linked Hyperuricemia

  • Choreoathetosis Self-Mutilation Syndrome

  • Hprt1 Deficiency

  • Hprt Deficiency, Complete

  • Deficiency Of Imp Pyrophosphorylase

  • Hgprt Deficiency

  • Lesch-Nyhan Disease

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency

  • Hg-Prt Deficiency

  • Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency

  • Lesch - Nyhan Syndrome

  • Hprt1 Disorders

  • Lesch Nyhan Syndrome

  • Complete Hprt Deficiency Complete

  • Lesch Nyhan Disease

  • Complete Hprt Deficiency

  • Deficiency Of Guanine Phosphoribosyltransferase

  • Deficiency Of Hypoxanthine Phosphoribosyltransferase

  • Hypoxanthine Phosphoribosyltransferase Deficiency

  • Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome

  • Juvenile Hyperuricemia Syndrome

  • Lnd

  • Primary Hyperuricemia Syndrome

  • Total Hprt Deficiency

  • Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency

  • X-Linked Primary Hyperuricemia

  • X-Linked Uric Aciduria Enzyme Defect

  • Hprt Complete Deficiency

  • Hprt Deficiency Grade Iv

  • Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv

  • Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency

  • Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency

  • Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Molybdenum Cofactor Deficiency
  • Combined Molybdoflavoprotein Enzyme Deficiency

  • Mocod

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

  • Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

  • Deficiency Of Molybdenum Cofactor

  • Deficiency, Molybdenum Cofactor

Purine-Pyrimidine Metabolic Disorder
  • Inborn Errors Of Purine-Pyrimidine Metabolism

  • Disorder Of Purine Or Pyrimidine Metabolism

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Gout
  • Gouty Arthritis

  • Articular Gout

  • Gouty Arthropathy

  • Arthritis, Gouty

  • Arthritis Gouty

  • Idiopathic Gout

  • Idiopathic Gout, Unspecified Site

  • Gouty Bursitis

  • Uratic Arthritis

  • Gout Nos

  • Gouty

  • Gouty Diathesis

Combined Immunodeficiency
  • Combined T Cell And B Cell Immunodeficiency

  • Congenital Combined Immunodeficiency

  • Syndrome With Combined Immunodeficiency

  • Combined T And B Cell Immunodeficiency

  • Combined Immunity Deficiency

  • Combined Immunodeficiency Syndrome

  • Combined T-Cell And B-Cell Immunodeficiency

  • Lymphopenic Agammaglobulinaemia

Hemolytic Anemia
  • Anemia, Hemolytic

  • Anemia Hemolytic

  • Anaemia Due To Other Disorders Of Glutathione Metabolism

  • Chronic Non Spherocytic Anaemia

  • G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

  • Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

  • Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

  • Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

  • Favism Anaemia

  • Haemolytic Anaemia Due Tog6pd Deficiency

  • Favism

  • Pentose Phosphate Pathway Disorder Anaemia

  • Anaemia Due To Pentose Phosphate Pathway Defect

Pellagra
  • Niacin Deficiency

  • Niacin-Tryptophan Deficiency

  • Pellagroid Syndrome

Primary Cutaneous T-Cell Non-Hodgkin Lymphoma
  • Cutaneous T-Cell Lymphoma

  • Cutaneous T Cell Lymphoma

  • Lymphoma, T-Cell, Cutaneous

  • Ctcl

  • Lymphoma T-Cell Cutaneous

Hyperuricemia, Hprt-Related
  • Hprt-Related Gout

  • Kelley-Seegmiller Syndrome

  • Hprt Deficiency, Partial

  • HRH

  • Gout, Hprt-Related

  • Hprt1 Deficiency, Partial

  • Hrpt-Related Hyperuricemia

  • Hprt Deficiency, Grade I

  • Hprt Partial Deficiency

  • Hprt-Related Hyperuricemia

  • Hprt1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I

  • Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency

  • Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

  • Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial

  • Hyperuricemia, Hrpt-Related

Reticular Dysgenesis
  • Severe Combined Immunodeficiency With Leukopenia

  • De Vaal Disease

  • Congenital Aleukia

  • Aleukocytosis

  • Hematopoietic Hypoplasia, Generalized

  • Reticular Dysgenesia

  • Devaal Disease

  • Rd

  • Ak2 Deficiency

  • Congenital Aleukocytosis

  • Generalized Hematopoietic Hypoplasia

  • Scid With Leukopenia

  • RDYS

Common Variable Immunodeficiency
  • Cvid

  • Common Variable Agammaglobulinemia

  • Common Variable Immune Deficiency

  • Acquired Hypogammaglobulinemia

  • Hypogamma-Globulinemia, Acquired

  • Idiopathic Immunoglobulin Deficiency

  • Primary Antibody Deficiency

  • Primary Hypogammaglobulinemia

  • Acquired Agammaglobulinemia

  • Sporadic Hypogammaglobulinemia

  • Common Variable Hypogamma-Globulinemia

  • Immunoglobulin Deficiency, Late-Onset

  • Common Variable Hypogammaglobulinemia

  • Immunodeficiency, Common Variable

Maxillary Sinus Squamous Cell Carcinoma
  • Epidermoid Carcinoma Of The Maxillofacial Sinus

Maxillary Sinus Cancer
  • Malignant Neoplasm Of Antrum

  • Malignant Tumor Of The Maxillary Sinus

  • Maxillary Sinus Carcinoma

  • Cancer Of Maxillary Sinus

  • Maxillary Sinus Neoplasms

Immune Deficiency Disease
  • Immunodeficiency

  • Primary Immunodeficiency

  • Primary Immunodeficiency Disease

  • Immunologic Deficiency Syndromes

  • Hypoimmunity

  • Immune Deficiency Disorder

  • Immunodeficiency Syndrome

  • Immune Disorder

  • Primary Immune Deficiency Disorder

  • Immune System Diseases

  • Human Immunodeficiency Virus Infection

  • Hiv - [Human Immunodeficiency Virus Infection]

  • Hiv Positive Nos

  • Hiv Disease

  • Acquired Immune Deficiency Syndrome-Related Complex

  • Aids-Like Syndrome

  • Aids-Related Complex Nos

  • Arc - [Aids-Related Complex]

  • Immunodeficiency Due To Human Immunodeficiency Virus Infection

  • Unspecified Human Immunodeficiency Virus Disease

  • Hiv Disease Nos

  • Human Immunodeficiency Virus Positive Nos

  • Hiv Nos

  • Deficiency Of Complement Initial Pathway

  • Deficiency Of Complement Terminal Pathway

  • Cfdd - [Complement Factor D Deficiency]

  • Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

  • Nonfamilial Hypogammaglobulinaemia

  • Common Variable Immune Deficiency

  • Nonfamilial Agammaglobulinaemia

  • Common Variable Agammaglobulinaemia

  • Agammaglobulinaemia Nos

  • Agammaglobulinaemia Antibody Deficiency Syndrome

  • Hypogammaglobulinaemia Antibody Deficiency Syndrome

  • Acquired Agammaglobulinaemia Nos

  • Hypogammaglobulinaemia Nos

  • Hyper Igm

Pancreatic Cancer
  • Pancreatic Carcinoma

  • Carcinoma Of Pancreas

  • Familial Pancreatic Carcinoma

  • Pancreatic Neoplasm

  • Pancreatic Carcinoma, Familial

  • Malignant Neoplasm Of Pancreas

  • Pancreatic Acinar Carcinoma

  • Pancreatic Tumor

  • Familial Pancreatic Cancer

  • Neoplasm Of The Pancreas

  • Cancer Of The Pancreas

  • Pancreatic Carcinoma, Somatic

  • Pancreatic Cancer, Somatic

  • Ca Body Of Pancreas

  • Ca Head Of Pancreas

  • Ca Tail Of Pancreas

  • Malignant Neoplasm Of Body Of Pancreas

  • Malignant Neoplasm Of Head Of Pancreas

  • Malignant Neoplasm Of Tail Of Pancreas

  • Pancreas Neoplasm

  • Exocrine Cancer

  • Exocrine Pancreas Carcinoma

  • Hereditary Pancreatic Cancer

  • Hereditary Pancreatic Carcinoma

  • PNCA

  • Pancreatic Cancer, Susceptibility To

  • Carcinoma Of Head Of Pancreas

  • Pancreatic Neoplasms

  • Pancreatic Tumors

  • Cancer, Pancreatic

  • Cancer Of Pancreas

  • Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

T Cell Deficiency
  • T Cell Immunodeficiency

  • T Lymphocyte Deficiency

  • T Lymphocyte Immunodeficiency

  • T-Lymphocyte Deficiency

T-Cell Acute Lymphoblastic Leukemia
  • T-Cell Leukemia

  • Acute T Cell Leukemia

  • Precursor T Lymphoblastic Leukemia

  • Precursor T-Lymphoblastic Lymphoma/Leukemia

  • T Acute Lymphoblastic Leukemia

  • T-Cell Acute Lymphocytic Leukaemia

  • T-Cell Lymphoblastic Leukemia/Lymphoma

  • Leukemia T-Cell

  • Leukemia, T-Cell

  • Leukemia, Acute, Lymphoblastic, T-Cell

  • Leukemia, T-Cell Acute Lymphoblastic

  • Leukemia, Acute T-Cell

  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

  • Precursor T-Cell Lymphoblastic Lymphoma

  • Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Bare Lymphocyte Syndrome, Type Ii
  • Mhc Class Ii Deficiency

  • Bare Lymphocyte Syndrome

  • Major Histocompatibility Complex Class Ii Deficiency

  • Bare Lymphocyte Syndrome 2

  • Bare Lymphocyte Syndrome Type 2

  • Severe Combined Immunodeficiency, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group C

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii

  • Scid, Hla Class Ii-Negative

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group A

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group B

  • Scid Due To Absent Class Ii Hla Antigens

  • Hla Class 1 Deficiency

  • Scid, Hla Class 2-Negative

  • Bls Type Ii

  • Bare Lymphocyte Syndrome Type 2, Complementation Group A

  • Bare Lymphocyte Syndrome Type 2, Complementation Group E

  • Severe Combined Immunodeficiency

  • Bls, Type Ii

  • Bls

  • Bare Lymphocyte Syndrome, Type Ii, Complementation Group E

  • Blsii

  • Bls Type 1

  • Bls 2

  • Scid Due To Absence Of Class Ii Hla Antigens

  • Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens

  • Immunodeficiency By Defective Expression Of Mhc Class Ii

  • BLS2

  • Bare Lymphocyte Syndrome Type Ii Complementation Group A

  • Bare Lymphocyte Syndrome Type Ii Complementation Group B

  • Bare Lymphocyte Syndrome Type Ii Complementation Group C

  • Bare Lymphocyte Syndrome Type Ii Complementation Group D

  • Bare Lymphocyte Syndrome Type Ii Complementation Group E

  • Bls Ii

  • Hereditary Mhc Class Ii Deficiency

  • Hla Class Ii Deficient Combined Immunodeficiency

  • Mhc-Ii Deficiency

  • Scid Hla Class Ii-Negative

  • Severe Combined Immunodeficiency Hla Class Ii-Negative

  • Bl-2

  • Immunodeficiency By Defective Expression Of Hla Class 2

  • Hla Class 2-Negative Severe Combined Immunodeficiency

Hematologic Cancer
  • Hematologic Neoplasm

  • Hematologic Neoplasms

  • Hematologic Malignancies

  • Blood Cancer

  • Hematologic Malignancy

  • Hematological Tumors

  • Hematopoietic And Lymphoid System Tumor

  • Hematopoietic Cancer

  • Hematopoietic Neoplasm

  • Hematopoietic Tumors

  • Malignant Hematopoietic Neoplasm

  • Liquid Tumor

  • Hematopoietic Neoplasms

Omenn Syndrome
  • Histiocytic Medullary Reticulosis

  • Severe Combined Immunodeficiency With Hypereosinophilia

  • Combined Immunodeficiency With Hypereosinophilia

  • Reticuloendotheliosis, Familial, With Eosinophilia

  • Reticuloendotheliosis Familial With Eosinophilia

  • Familial Reticuloendotheliosis

  • Omenn'S Syndrome

  • OS

  • Malignant Histiocytosis

Leukemia, Chronic Lymphocytic
  • Chronic Lymphocytic Leukemia

  • B-Cell Chronic Lymphocytic Leukemia

  • CLL

  • B-Cell Chronic Lymphoid Leukemia

  • Chronic Lymphatic Leukemia

  • Chronic Lymphocytic Leukaemia

  • Lymphoplasmacytic Leukemia

  • Small Lymphocytic Lymphoma

  • Leukemia, Chronic Lymphatic

  • B-Cell Chronic Lymphocytic Leukaemia

  • Chronic Lymphatic Leukaemia

  • Lymphoplasmacytic Leukaemia

  • B Cell Chronic Lymphocytic Leukemia

  • Chronic B-Cell Lymphocytic Leukemia

  • Leukemia, Lymphocytic, Chronic

  • B-Cll

  • Chronic Lymphoid Leukemia

  • Leukemia Lymphocytic Chronic

  • Lymphoma Small Lymphocytic

  • Leukemia, Lymphocytic, Chronic, B-Cell

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
Rattus norvegicus PNP RGD RGD:1597189
Canis familiaris PNP VGNC VGNC:44751
Felis catus PNP VGNC VGNC:80883
Others PNP NCBI