Human Gene PNP (ENST00000361505.10_5) from GENCODE V47lift37
Description: purine nucleoside phosphorylase (from RefSeq NM_000270.4)
Gencode Transcript: ENST00000361505.10_5
Gencode Gene: ENSG00000198805.13_12
Transcript (Including UTRs)
Position: hg19 chr14:20,937,565-20,945,248 Size: 7,684 Total Exon Count: 6 Strand: +
Coding Region
Position: hg19 chr14:20,937,684-20,944,760 Size: 7,077 Coding Exon Count: 6
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: PNP
Diseases sorted by gene-association score: immunodeficiency due to purine nucleoside phosphorylase deficiency * (1668), adenosine deaminase deficiency (20), lesch-nyhan syndrome (18), exhibitionism (16), paraphilia disorder (16), pedophilia (11), internal hordeolum (11), hordeolum (9), meibomian cyst (9), specific bursitis often of occupational origin (8), thiopurines, poor metabolism of, 1 (8), olecranon bursitis (7), delusional disorder (6), hemometra (6), immune defect due to absence of thymus (6), molybdenum cofactor deficiency (6), purine-pyrimidine metabolic disorder (5), miller-dieker lissencephaly syndrome (5), t cell deficiency (5), combined t cell and b cell immunodeficiency (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
LF384985 - JP 2014500723-A/192488: Polycomb-Associated Non-Coding RNAs.BC106074 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:117396 IMAGE:3859664), complete cds.EU794649 - Homo sapiens epididymis secretory sperm binding protein Li 156an (HEL-S-156an) mRNA, complete cds.AK307364 - Homo sapiens cDNA, FLJ97312.AK307340 - Homo sapiens cDNA, FLJ97288.AK313490 - Homo sapiens cDNA, FLJ94043, Homo sapiens nucleoside phosphorylase (NP), mRNA.X00737 - Human mRNA for purine nucleoside phosphorylase (PNP; EC 2.4.2.1).AK098544 - Homo sapiens cDNA FLJ25678 fis, clone TST04067, highly similar to PURINE NUCLEOSIDE PHOSPHORYLASE (EC 2.4.2.1).BC104206 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:125915 IMAGE:40031416), complete cds.BC104207 - Homo sapiens nucleoside phosphorylase, mRNA (cDNA clone MGC:125916 IMAGE:40031417), complete cds.KJ891711 - Synthetic construct Homo sapiens clone ccsbBroadEn_01105 PNP gene, encodes complete protein.KR711540 - Synthetic construct Homo sapiens clone CCSBHm_00025883 PNP (PNP) mRNA, encodes complete protein.KR711541 - Synthetic construct Homo sapiens clone CCSBHm_00025886 PNP (PNP) mRNA, encodes complete protein.KR711542 - Synthetic construct Homo sapiens clone CCSBHm_00025889 PNP (PNP) mRNA, encodes complete protein.KR711543 - Synthetic construct Homo sapiens clone CCSBHm_00025897 PNP (PNP) mRNA, encodes complete protein.AB591016 - Synthetic construct DNA, clone: pFN21AE1781, Homo sapiens NP gene for purine nucleoside phosphorylase, without stop codon, in Flexi system.CR407607 - Homo sapiens full open reading frame cDNA clone RZPDo834A062D for gene NP, nucleoside phosphorylase complete cds, without stopcodon.AK126154 - Homo sapiens cDNA FLJ44166 fis, clone THYMU2033583, highly similar to Purine nucleoside phosphorylase (EC 2.4.2.1).LF334345 - JP 2014500723-A/141848: Polycomb-Associated Non-Coding RNAs.AF116670 - Homo sapiens PRO1837 mRNA, complete cds.LF334346 - JP 2014500723-A/141849: Polycomb-Associated Non-Coding RNAs.LF334352 - JP 2014500723-A/141855: Polycomb-Associated Non-Coding RNAs.LF334347 - JP 2014500723-A/141850: Polycomb-Associated Non-Coding RNAs.JD262953 - Sequence 243977 from Patent EP1572962.JD403174 - Sequence 384198 from Patent EP1572962.JD527680 - Sequence 508704 from Patent EP1572962.LF334348 - JP 2014500723-A/141851: Polycomb-Associated Non-Coding RNAs.JD448050 - Sequence 429074 from Patent EP1572962.JD254463 - Sequence 235487 from Patent EP1572962.JD356553 - Sequence 337577 from Patent EP1572962.JD243510 - Sequence 224534 from Patent EP1572962.JD148536 - Sequence 129560 from Patent EP1572962.LF334349 - JP 2014500723-A/141852: Polycomb-Associated Non-Coding RNAs.JD176084 - Sequence 157108 from Patent EP1572962.JD422962 - Sequence 403986 from Patent EP1572962.LF334350 - JP 2014500723-A/141853: Polycomb-Associated Non-Coding RNAs.MA620562 - JP 2018138019-A/192488: Polycomb-Associated Non-Coding RNAs.MA569922 - JP 2018138019-A/141848: Polycomb-Associated Non-Coding RNAs.MA569923 - JP 2018138019-A/141849: Polycomb-Associated Non-Coding RNAs.MA569929 - JP 2018138019-A/141855: Polycomb-Associated Non-Coding RNAs.MA569924 - JP 2018138019-A/141850: Polycomb-Associated Non-Coding RNAs.MA569925 - JP 2018138019-A/141851: Polycomb-Associated Non-Coding RNAs.MA569926 - JP 2018138019-A/141852: Polycomb-Associated Non-Coding RNAs.MA569927 - JP 2018138019-A/141853: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
BioCyc Knowledge Library P121-PWY - adenine and adenosine salvage I
PWY-4202 - arsenic detoxification (mammals)
PWY-5695 - inosine 5'-phosphate degradation
PWY-6353 - purine nucleotides degradation
PWY-6608 - guanosine nucleotides degradation
PWY-6609 - adenine and adenosine salvage III
PWY-6620 - guanine and guanosine salvage
PWY-7179-1 - purine deoxyribonucleosides degradation
PWY0-1296 - purine ribonucleosides degradation to ribose-1-phosphate
PWY66-409 - superpathway of purine nucleotide salvage
SALVADEHYPOX-PWY - adenosine nucleotides degradation
Other Names for This Gene
Alternate Gene Symbols: ENST00000361505.1, ENST00000361505.2, ENST00000361505.3, ENST00000361505.4, ENST00000361505.5, ENST00000361505.6, ENST00000361505.7, ENST00000361505.8, ENST00000361505.9, HEL-S-156an , NM_000270, uc318ccx.1, uc318ccx.2, V9HWH6, V9HWH6_HUMANUCSC ID: ENST00000361505.10_5RefSeq Accession: NM_000270.4
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.