Entity Details

Primary name PYR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP27708
EntryNamePYR1_HUMAN
FullNameCAD protein
TaxID9606
Evidenceevidence at protein level
Length2225
SequenceStatuscomplete
DateCreated1992-08-01
DateModified2021-06-02

Ontological Relatives

GenesCAD

GO terms

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GOName
GO:0001889 liver development
GO:0004070 aspartate carbamoyltransferase activity
GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity
GO:0004151 dihydroorotase activity
GO:0004672 protein kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process
GO:0006228 UTP biosynthetic process
GO:0006541 glutamine metabolic process
GO:0006807 nitrogen compound metabolic process
GO:0007507 heart development
GO:0007565 female pregnancy
GO:0007595 lactation
GO:0008270 zinc ion binding
GO:0014075 response to amine
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0017144 drug metabolic process
GO:0018107 peptidyl-threonine phosphorylation
GO:0019240 citrulline biosynthetic process
GO:0019899 enzyme binding
GO:0031000 response to caffeine
GO:0031100 animal organ regeneration
GO:0032868 response to insulin
GO:0032991 protein-containing complex
GO:0033574 response to testosterone
GO:0035690 cellular response to drug
GO:0042594 response to starvation
GO:0042802 identical protein binding
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043195 terminal bouton
GO:0044205 'de novo' UMP biosynthetic process
GO:0046134 pyrimidine nucleoside biosynthetic process
GO:0046777 protein autophosphorylation
GO:0051414 response to cortisol
GO:0070062 extracellular exosome
GO:0070335 aspartate binding
GO:0071364 cellular response to epidermal growth factor stimulus

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR002082 Aspartate carbamoyltransferaseFamilyFamily
IPR002195 Dihydroorotase, conserved siteSiteConserved site
IPR002474 Carbamoyl-phosphate synthase small subunit, N-terminal domainDomainDomain
IPR005479 Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domainDomainDomain
IPR005480 Carbamoyl-phosphate synthetase, large subunit oligomerisation domainDomainDomain
IPR005483 Carbamoyl-phosphate synthase large subunit, CPSase domainDomainDomain
IPR006130 Aspartate/ornithine carbamoyltransferaseFamilyFamily
IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domainDomainDomain
IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P bindingDomainDomain
IPR006274 Carbamoyl-phosphate synthase, small subunitFamilyFamily
IPR006275 Carbamoyl-phosphate synthase, large subunitFamilyFamily
IPR006680 Amidohydrolase-relatedDomainDomain
IPR011059 Metal-dependent hydrolase, composite domain superfamilyFamilyHomologous superfamily
IPR011607 Methylglyoxal synthase-like domainDomainDomain
IPR011761 ATP-grasp foldDomainDomain
IPR013815 ATP-grasp fold, subdomain 1FamilyHomologous superfamily
IPR016185 Pre-ATP-grasp domain superfamilyFamilyHomologous superfamily
IPR017926 Glutamine amidotransferaseDomainDomain
IPR029062 Class I glutamine amidotransferase-likeFamilyHomologous superfamily
IPR032466 Metal-dependent hydrolaseFamilyHomologous superfamily
IPR035686 Carbamoyl-phosphate synthase small subunit, GATase1 domainDomainDomain
IPR036480 Carbamoyl-phosphate synthase small subunit, N-terminal domain superfamilyFamilyHomologous superfamily
IPR036897 Carbamoyl-phosphate synthetase, large subunit oligomerisation domain superfamilyFamilyHomologous superfamily
IPR036901 Aspartate/ornithine carbamoyltransferase superfamilyFamilyHomologous superfamily
IPR036914 Methylglyoxal synthase-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
616457 OMIMDevelopmental and epileptic encephalopathy 50 (DEE50)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00128 Aspartic acidDrugbanksmall molecule
DB00130 L-GlutamineDrugbanksmall molecule
DB03459 Sparfosic acidDrugbanksmall molecule

Interactions

37 interactions

InteractorPartnerSourcesPublicationsLink
PYR1_HUMANPYR1_HUMANDIP, HPRD11986331 12438317 14523024 24332717 details
PYR1_HUMANHTRA2_HUMANBioGRID17266347 details
PYR1_HUMANNEDD4_HUMANBioGRID16055720 details
PYR1_HUMANSUMO2_HUMANBioGRID19394292 details
PYR1_HUMANRAD9A_HUMANBioGRID15326225 details
PYR1_HUMANPTEN_HUMANBioGRID31685992 details
PYR1_HUMANIKBE_HUMANIntAct14743216 details
PYR1_HUMANNEMO_HUMANIntAct14743216 details
PYR1_HUMANM3K1_HUMANIntAct14743216 details
PYR1_HUMANM3K3_HUMANIntAct14743216 details
PYR1_HUMANNFKB2_HUMANIntAct14743216 details
PYR1_HUMANM3K14_HUMANBioGRID, IntAct14743216 30833792 31980649 details
PYR1_HUMANTF65_HUMANIntAct14743216 details
PYR1_HUMANRELB_HUMANIntAct14743216 details
PYR1_HUMANRIPK1_HUMANIntAct14743216 details
PYR1_HUMANRIPK3_HUMANIntAct14743216 details
PYR1_HUMANTAB2_HUMANIntAct14743216 details
PYR1_HUMANM3K7_HUMANIntAct14743216 details
PYR1_HUMANTNR1A_HUMANIntAct14743216 details
PYR1_HUMANTNR1B_HUMANIntAct14743216 details
PYR1_HUMANTRADD_HUMANIntAct14743216 details
PYR1_HUMANTRAF2_HUMANIntAct14743216 details
PYR1_HUMAN1433Z_HUMANMINT15161933 details
PYR1_HUMANHDAC5_HUMANBioGRID21081666 details
PYR1_HUMANNCOA2_HUMANBioGRID16051665 details
PYR1_HUMANITA4_HUMANBioGRID22623428 details
PYR1_HUMANSPRTN_HUMANBioGRID23254330 details
PYR1_HUMANDERL1_HUMANBioGRID28137758 details
PYR1_HUMANVHL_HUMANBioGRID28775317 details
PYR1_HUMANFAS_HUMANBioGRID28775317 details
PYR1_HUMANISG15_HUMANBioGRID33024031 details
PYR1_HUMANMK01_HUMANHPRD12438317 details
PYR1_HUMANCASP3_HUMANHPRD11854437 details
PYR1_HUMANKAPCA_HUMANHPRD11986331 4092695 details
PYR1_HUMANPP2AA_HUMANHPRD4092695 details
PYR1_HUMANPP1A_HUMANHPRD4092695 details
PYR1_HUMAN1433G_HUMANHPRD15324660 details