Pyrimidine metabolism

Pathway network for the Pyrimidine metabolism SuperPath

Sources:

WikiPathways
PubChem
PharmGKB

Pathways in the Pyrimidine metabolism SuperPath

#	Name	Source	Genes
1	Pyrimidine metabolism	WikiPathways	CAD CDA CMPK1 CMPK2 CTPS1 CTPS2 DCK DCTD DCTPP1 DHODH DPYD DPYS DTYMK DUT ENPP1 ENPP3 ENTPD1 ENTPD3 NME1 NME1-NME2 NME2 NME3 NME4 NME6 NME7 NT5C NT5M PNPT1 POLA1 POLA2 POLD1 POLD2 POLD3 POLD4 POLE POLE2 POLE3 POLE4 POLR1A POLR1B POLR1C POLR1D POLR1E POLR1F POLR1H POLR2A POLR2B POLR2C POLR2D POLR2E POLR2G POLR2H POLR2I POLR2J POLR2J2 POLR2J3 POLR2K POLR2L POLR3A POLR3B POLR3C POLR3D POLR3E POLR3F POLR3G POLR3GL POLR3H POLR3K PRIM1 PRIM2 RRM1 RRM2 RRM2B TK1 TK2 TYMP TYMS UCK1 UCK2 UCKL1 UMPS UPB1 UPP1 UPRT (see all 84) (see less)
2	superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis	PubChem	CAD CMPK1 CTPS1 CTPS2 DTYMK DUT NME1 NME2 NTPCR RRM1 RRM2 TYMS (see all 12) (see less)
3	superpathway of pyrimidine deoxyribonucleoside salvage	PubChem	CDA CMPK1 DCK DTYMK NME1 NME2 TK1 TK2 TYMS (see all 9) (see less)
4	pyrimidine deoxyribonucleotides de novo biosynthesis I	PubChem	DTYMK DUT NME1 NME2 NTPCR RRM1 RRM2 TYMS (see all 8) (see less)
5	superpathway of pyrimidine ribonucleotides de novo biosynthesis	PubChem	CAD CMPK1 CTPS1 CTPS2 NME1 NME2 (see all 6) (see less)
6	UTP and CTP de novo biosynthesis	PubChem	CMPK1 CTPS1 CTPS2 NME1 NME2
7	pyrimidine deoxyribonucleosides salvage	PubChem	CDA DCK TK1 TK2 TYMS
8	pyrimidine deoxyribonucleotide phosphorylation	PubChem	CMPK1 DTYMK NME1 NME2
9	Telbivudine Pathway, Pharmacokinetics	PharmGKB	DTYMK NME4 TK2
10	CMP phosphorylation	PubChem	CMPK1 NME1 NME2

Gene overlap in member pathways for Pyrimidine metabolism SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	NME2	NME/NM23 Nucleoside Diphosphate Kinase 2	Protein Coding	8
2	NME1	NME/NM23 Nucleoside Diphosphate Kinase 1	Protein Coding	8
3	CMPK1	Cytidine/Uridine Monophosphate Kinase 1	Protein Coding	7
4	DTYMK	Deoxythymidylate Kinase	Protein Coding	6
5	TYMS	Thymidylate Synthetase	Protein Coding	5
6	TK2	Thymidine Kinase 2	Protein Coding	4
7	CTPS1	CTP Synthase 1	Protein Coding	4
8	CTPS2	CTP Synthase 2	Protein Coding	4
9	DUT	Deoxyuridine Triphosphatase	Protein Coding	3
10	CDA	Cytidine Deaminase	Protein Coding	3
11	CAD	Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase	Protein Coding	3
12	TK1	Thymidine Kinase 1	Protein Coding	3
13	RRM2	Ribonucleotide Reductase Regulatory Subunit M2	Protein Coding	3
14	RRM1	Ribonucleotide Reductase Catalytic Subunit M1	Protein Coding	3
15	DCK	Deoxycytidine Kinase	Protein Coding	3
16	NME4	NME/NM23 Nucleoside Diphosphate Kinase 4	Protein Coding	2
17	NTPCR	Nucleoside-Triphosphatase, Cancer-Related	Protein Coding	2
18	ENTPD3	Ectonucleoside Triphosphate Diphosphohydrolase 3	Protein Coding	1
19	DCTPP1	DCTP Pyrophosphatase 1	Protein Coding	1
20	NT5M	5'',3''-Nucleotidase, Mitochondrial	Protein Coding	1
21	POLR2B	RNA Polymerase II Subunit B	Protein Coding	1
22	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
23	ENPP3	Ectonucleotide Pyrophosphatase/Phosphodiesterase 3	Protein Coding	1
24	DCTD	DCMP Deaminase	Protein Coding	1
25	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	1
26	ENTPD1	Ectonucleoside Triphosphate Diphosphohydrolase 1	Protein Coding	1
27	PNPT1	Polyribonucleotide Nucleotidyltransferase 1	Protein Coding	1
28	UPP1	Uridine Phosphorylase 1	Protein Coding	1
29	UMPS	Uridine Monophosphate Synthetase	Protein Coding	1
30	UCK2	Uridine-Cytidine Kinase 2	Protein Coding	1
31	POLR3B	RNA Polymerase III Subunit B	Protein Coding	1
32	POLR2G	RNA Polymerase II Subunit G	Protein Coding	1
33	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	1
34	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	1
35	POLA1	DNA Polymerase Alpha 1, Catalytic Subunit	Protein Coding	1
36	UPB1	Beta-Ureidopropionase 1	Protein Coding	1
37	POLR3K	RNA Polymerase III Subunit K	Protein Coding	1
38	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	1
39	POLR1D	RNA Polymerase I And III Subunit D	Protein Coding	1
40	RRM2B	Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B	Protein Coding	1
41	POLR1H	RNA Polymerase I Subunit H	Protein Coding	1
42	NT5C	5'', 3''-Nucleotidase, Cytosolic	Protein Coding	1
43	NME7	NME/NM23 Family Member 7	Protein Coding	1
44	POLR1A	RNA Polymerase I Subunit A	Protein Coding	1
45	TYMP	Thymidine Phosphorylase	Protein Coding	1
46	DPYS	Dihydropyrimidinase	Protein Coding	1
47	DPYD	Dihydropyrimidine Dehydrogenase	Protein Coding	1
48	DHODH	Dihydroorotate Dehydrogenase (Quinone)	Protein Coding	1
49	POLR3A	RNA Polymerase III Subunit A	Protein Coding	1
50	POLD3	DNA Polymerase Delta 3, Accessory Subunit	Protein Coding	1
51	POLR3H	RNA Polymerase III Subunit H	Protein Coding	1
52	POLR3GL	RNA Polymerase III Subunit GL	Protein Coding	1
53	POLR1B	RNA Polymerase I Subunit B	Protein Coding	1
54	UPRT	Uracil Phosphoribosyltransferase Homolog	Protein Coding	1
55	CMPK2	Cytidine/Uridine Monophosphate Kinase 2	Protein Coding	1
56	POLR3C	RNA Polymerase III Subunit C	Protein Coding	1
57	POLR3G	RNA Polymerase III Subunit G	Protein Coding	1
58	POLR3F	RNA Polymerase III Subunit F	Protein Coding	1
59	NME6	NME/NM23 Nucleoside Diphosphate Kinase 6	Protein Coding	1
60	UCK1	Uridine-Cytidine Kinase 1	Protein Coding	1
61	POLR3D	RNA Polymerase III Subunit D	Protein Coding	1
62	NME1-NME2	NME1-NME2 Readthrough	Protein Coding	1
63	POLR1E	RNA Polymerase I Subunit E	Protein Coding	1
64	POLD4	DNA Polymerase Delta 4, Accessory Subunit	Protein Coding	1
65	POLE4	DNA Polymerase Epsilon 4, Accessory Subunit	Protein Coding	1
66	POLR3E	RNA Polymerase III Subunit E	Protein Coding	1
67	PRIM2	DNA Primase Subunit 2	Protein Coding	1
68	PRIM1	DNA Primase Subunit 1	Protein Coding	1
69	UCKL1	Uridine-Cytidine Kinase 1 Like 1	Protein Coding	1
70	POLR2J3	RNA Polymerase II Subunit J3	Protein Coding	1
71	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	1
72	POLR2K	RNA Polymerase II, I And III Subunit K	Protein Coding	1
73	POLR2J	RNA Polymerase II Subunit J	Protein Coding	1
74	POLR2I	RNA Polymerase II Subunit I	Protein Coding	1
75	POLR2H	RNA Polymerase II, I And III Subunit H	Protein Coding	1
76	POLR2E	RNA Polymerase II, I And III Subunit E	Protein Coding	1
77	POLR2D	RNA Polymerase II Subunit D	Protein Coding	1
78	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
79	POLE2	DNA Polymerase Epsilon 2, Accessory Subunit	Protein Coding	1
80	POLD2	DNA Polymerase Delta 2, Accessory Subunit	Protein Coding	1
81	POLE3	DNA Polymerase Epsilon 3, Accessory Subunit	Protein Coding	1
82	NME3	NME/NM23 Nucleoside Diphosphate Kinase 3	Protein Coding	1
83	POLR2J2	RNA Polymerase II Subunit J2	Protein Coding	1
84	POLA2	DNA Polymerase Alpha 2, Accessory Subunit	Protein Coding	1
85	POLR1F	RNA Polymerase I Subunit F	Protein Coding	1

Disorders associated with Pyrimidine metabolism SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	Enrichment	POLR1C, POLR3A, POLR3B	5.64
2	Treacher collins syndrome 1	Enrichment	POLR1B, POLR1C, POLR1D	5.10
3	Polr3-related leukodystrophy	Enrichment	POLR3A, POLR3B	3.95
4	Polymerase proofreading-related polyposis	Enrichment	POLD1, POLE	3.95
5	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3	Enrichment	TK2	3.66
6	Neurodegeneration, childhood-onset, with progressive microcephaly	Enrichment	DTYMK	3.66
7	Hypomyelinating leukodystrophy 7	Enrichment	POLR3A, POLR3B	3.65
8	Immunodeficiency 24	Enrichment	CTPS1	3.43
9	Mitochondrial dna depletion syndrome 2	Enrichment	TK2	3.35
10	Autosomal recessive progressive external ophthalmoplegia	Enrichment	TK2	3.35
11	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6	Enrichment	RRM1	3.23
12	Bone marrow failure and diabetes mellitus syndrome	Enrichment	DUT	3.23
13	Dyskeratosis congenita, digenic	Enrichment	TYMS	3.13
14	Developmental and epileptic encephalopathy 50	Enrichment	CAD	3.05
15	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	RRM2B, TYMP	2.88
16	Mitochondrial dna depletion syndrome	Enrichment	TK2	2.88
17	Familial colorectal cancer type x	Enrichment	POLD1, POLE	2.70
18	Dihydropyrimidinase deficiency	Enrichment	DPYS	2.21
19	Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development	Enrichment	POLE	2.21
20	Van esch-o'driscoll syndrome	Enrichment	POLA1	2.21
21	Spinocerebellar ataxia 25	Enrichment	PNPT1	2.21
22	Orotic aciduria	Enrichment	UMPS	2.21
23	Beta-ureidopropionase deficiency	Enrichment	UPB1	2.21
24	Colorectal cancer 10	Enrichment	POLD1	2.21
25	Arterial calcification, generalized, of infancy, 1	Enrichment	ENPP1	2.21
26	Colorectal cancer 12	Enrichment	POLE	2.21
27	Pigmentary disorder, reticulate, with systemic manifestations, x-linked	Enrichment	POLA1	2.21
28	Leukodystrophy, hypomyelinating, 27	Enrichment	POLR1A	2.21
29	Treacher collins syndrome 4	Enrichment	POLR1B	2.21
30	Immunodeficiency 120	Enrichment	POLD1	2.21
31	Mitochondrial dna depletion syndrome 8b	Enrichment	RRM2B	2.21
32	Immunodeficiency 101	Enrichment	POLR3F	2.21
33	Leukodystrophy, hypomyelinating, 21	Enrichment	POLR3K	2.21
34	Ossification of the posterior longitudinal ligament of spine	Enrichment	ENPP1	2.21
35	Treacher collins syndrome 2	Enrichment	POLR1D	2.21
36	Hypophosphatemic rickets, autosomal recessive, 2	Enrichment	ENPP1	2.21
37	Combined oxidative phosphorylation deficiency 13	Enrichment	PNPT1	2.21
38	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	Enrichment	POLD1	2.21
39	Cole disease	Enrichment	ENPP1	2.21
40	Immunodeficiency 122	Enrichment	POLD3	2.21
41	Hypopigmentation-punctate palmoplantar keratoderma syndrome	Enrichment	ENPP1	2.21
42	Odontoleukodystrophy	Enrichment	POLR3A	2.21
43	Rrm2b mitochondrial dna maintenance defects	Enrichment	RRM2B	2.21
44	1p21.3 microdeletion syndrome	Enrichment	DPYD	2.21
45	Leukodystrophy	Enrichment	POLR3A, POLR3B	2.17
46	Dyskeratosis congenita	Enrichment	TYMS	2.16
47	Myopathy	Enrichment	TK2	2.05
48	Developmental and epileptic encephalopathy 1	Enrichment	CAD	1.96
49	Fanconi renotubular syndrome 1	Enrichment	RRM2B	1.91
50	Treacher collins syndrome 3	Enrichment	POLR1C	1.91
51	Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction	Enrichment	RRM2B	1.91
52	Leukodystrophy, hypomyelinating, 4	Enrichment	POLR3A	1.91
53	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5	Enrichment	RRM2B	1.91
54	Mitochondrial dna depletion syndrome 8a	Enrichment	RRM2B	1.91
55	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Enrichment	POLE	1.91
56	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	Enrichment	POLR3B	1.91
57	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2	Enrichment	RRM2B	1.91
58	Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration	Enrichment	PNPT1	1.91
59	Leukoencephalopathy, progressive, with ovarian failure	Enrichment	POLR1C	1.91
60	Basal ganglia calcification, idiopathic, 10, autosomal recessive	Enrichment	CMPK2	1.91
61	Charcot-marie-tooth disease, demyelinating, type 1i	Enrichment	POLR3B	1.91
62	Short stature, oligodontia, dysmorphic facies, and motor delay	Enrichment	POLR3GL	1.91
63	Miller syndrome	Enrichment	DHODH	1.91
64	Autosomal recessive nonsyndromic deafness 70	Enrichment	PNPT1	1.91
65	Autosomal recessive hypophosphatemic rickets	Enrichment	ENPP1	1.91
66	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Enrichment	POLE	1.91
67	Spastic paraplegia 64, autosomal recessive	Enrichment	ENTPD1	1.91
68	Leukodystrophy, hypomyelinating, 11	Enrichment	POLR1C	1.91
69	Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	Enrichment	PRIM1	1.91
70	Facial dysmorphism, immunodeficiency, livedo, and short stature	Enrichment	POLE	1.91
71	Acrofacial dysostosis, cincinnati type	Enrichment	POLR1A	1.91
72	Dystonia 28, childhood-onset	Enrichment	ENPP1	1.91
73	Hyperostosis	Enrichment	POLR3GL	1.91
74	Arterial calcification of infancy	Enrichment	ENPP1	1.91
75	Wiedemann-rautenstrauch syndrome	Enrichment	POLR3A	1.73
76	Partington syndrome	Enrichment	POLA1	1.73
77	Dihydropyrimidine dehydrogenase deficiency	Enrichment	DPYD	1.73
78	Burn-mckeown syndrome	Enrichment	POLR1A	1.73
79	Infantile cerebellar-retinal degeneration	Enrichment	POLR3H	1.73
80	Optic atrophy 9	Enrichment	POLR3H	1.73
81	Viss syndrome	Enrichment	POLR3B	1.73
82	Idiopathic camptocormia	Enrichment	RRM2B	1.73
83	Neonatal pseudo-hydrocephalic progeroid syndrome	Enrichment	POLR3A	1.73
84	Mitochondrial disease	Enrichment	TK2	1.72
85	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	1.61
86	Kearns-sayre syndrome	Enrichment	RRM2B	1.51
87	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	RRM2B	1.44
88	Pseudoxanthoma elasticum	Enrichment	ENPP1	1.44
89	Mitochondrial dna depletion syndrome 1	Enrichment	TYMP	1.44
90	Hypophosphatemic rickets	Enrichment	ENPP1	1.37
91	Basal ganglia calcification, idiopathic, 1	Enrichment	CMPK2	1.31
92	Mitochondrial dna depletion syndrome 4b	Enrichment	TYMP	1.31
93	Combined immunodeficiency	Enrichment	POLD1	1.18
94	Movement disease	Enrichment	POLR3A	1.18
95	Combined t cell and b cell immunodeficiency	Enrichment	POLD1	1.18
96	Combined t and b cell immunodeficiency	Enrichment	POLD1	1.18
97	46 xx gonadal dysgenesis	Enrichment	POLR3H	1.14
98	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	POLR3B	1.08
99	Seckel syndrome	Enrichment	PRIM1	1.08
100	Colorectal cancer	Enrichment	POLD1, POLE	0.99
101	Esophageal atresia/tracheoesophageal fistula	Enrichment	POLR2B	0.95
102	Tooth agenesis	Enrichment	POLR3GL	0.89
103	Pancreatic cancer	Enrichment	POLD1	0.84
104	Visceral heterotaxy 5	Enrichment	NME7	0.76
105	Inherited cancer-predisposing syndrome	Enrichment	POLD1, POLE	0.71
106	Type 2 diabetes mellitus	Enrichment	ENPP1	0.64
107	Optic atrophy plus syndrome	Enrichment	POLR3H	0.62
108	Sensorineural hearing loss	Enrichment	RRM2B	0.59
109	Body mass index quantitative trait locus 11	Enrichment	ENPP1	0.57
110	Spastic ataxia	Enrichment	POLR3A	0.55
111	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	PNPT1	0.37
112	Retinitis pigmentosa	Enrichment	RRM2B	0.13

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Pyrimidine metabolism

Pathway Network for Pyrimidine metabolism

Pathway network for the Pyrimidine metabolism SuperPath

Member Pathways for Pyrimidine metabolism

Pathways in the Pyrimidine metabolism SuperPath

Gene overlap in member pathways for Pyrimidine metabolism SuperPath

Associated Genes for Pyrimidine metabolism

Associated Disorders for Pyrimidine metabolism

Disorders associated with Pyrimidine metabolism SuperPath

STRING Interaction Network for Pyrimidine metabolism

Sources for Pyrimidine metabolism