• Gene id: 790

Gene Summary

• Gene Symbol: CAD   Gene   UCSC   Ensembl
• Aliases: CDG1Z, EIEE50, GATD4
• Gene name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
• Alternate names: CAD protein, CAD trifunctional protein, multifunctional protein CAD,
• Gene location: 2p23.3 (27217368: 27243942)     Exons: 45     NC_000002.12
• Gene summary(Entrez): The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynth
• OMIM: 615200

SNPs

rs28362491

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000004.12   g.102500998_102501001ATTG[1]
NC_000004.11   g.103422155_103422158ATTG[1]
NG_050628.1   g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1
LOC105377621   105377621

rs1801394

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.7870860A>G
NC_000005.9   g.7870973A>G
NG_008856.1   g.6757A>G
NM_024010.4   c.66A>G
NM_024010.3   c.66A>G
NM_024010.2   c.147A>G
NM_002454.3   c.66A>G
NM_002454.2   c.66A>G
NM_001364440.2   c.66A>G
NM_001364440.1   c.66A>G
NM_001364441.2   c.66A>G
NM_0013  

Protein Summary

• Protein general information: P27708  
  • Name: CAD protein [Includes: Glutamine dependent carbamoyl phosphate synthase (EC 6.3.5.5); Aspartate carbamoyltransferase (EC 2.1.3.2); Dihydroorotase (EC 3.5.2.3)]
  • Length: 2225  
  • Mass: 242984
• Sequence:

  MAALVLEDGSVLRGQPFGAAVSTAGEVVFQTGMVGYPEALTDPSYKAQILVLTYPLIGNYGIPPDEMDEFGLCKW
  FESSGIHVAALVVGECCPTPSHWSATRTLHEWLQQHGIPGLQGVDTRELTKKLREQGSLLGKLVQNGTEPSSLPF
  LDPNARPLVPEVSIKTPRVFNTGGAPRILALDCGLKYNQIRCLCQRGAEVTVVPWDHALDSQEYEGLFLSNGPGD
  PASYPSVVSTLSRVLSEPNPRPVFGICLGHQLLALAIGAKTYKMRYGNRGHNQPCLLVGSGRCFLTSQNHGFAVE
  TDSLPADWAPLFTNANDGSNEGIVHNSLPFFSVQFHPEHQAGPSDMELLFDIFLETVKEATAGNPGGQTVRERLT
  ERLCPPGIPTPGSGLPPPRKVLILGSGGLSIGQAGEFDYSGSQAIKALKEENIQTLLINPNIATVQTSQGLADKV
  YFLPITPHYVTQVIRNERPDGVLLTFGGQTALNCGVELTKAGVLARYGVRVLGTPVETIELTEDRRAFAARMAEI
  GEHVAPSEAANSLEQAQAAAERLGYPVLVRAAFALGGLGSGFASNREELSALVAPAFAHTSQVLVDKSLKGWKEI
  EYEVVRDAYGNCVTVCNMENLDPLGIHTGESIVVAPSQTLNDREYQLLRQTAIKVTQHLGIVGECNVQYALNPES
  EQYYIIEVNARLSRSSALASKATGYPLAYVAAKLALGIPLPELRNSVTGGTAAFEPSVDYCVVKIPRWDLSKFLR
  VSTKIGSCMKSVGEVMGIGRSFEEAFQKALRMVDENCVGFDHTVKPVSDMELETPTDKRIFVVAAALWAGYSVDR
  LYELTRIDRWFLHRMKRIIAHAQLLEQHRGQPLPPDLLQQAKCLGFSDKQIALAVLSTELAVRKLRQELGICPAV
  KQIDTVAAEWPAQTNYLYLTYWGTTHDLTFRTPHVLVLGSGVYRIGSSVEFDWCAVGCIQQLRKMGYKTIMVNYN
  PETVSTDYDMCDRLYFDEISFEVVMDIYELENPEGVILSMGGQLPNNMAMALHRQQCRVLGTSPEAIDSAENRFK
  FSRLLDTIGISQPQWRELSDLESARQFCQTVGYPCVVRPSYVLSGAAMNVAYTDGDLERFLSSAAAVSKEHPVVI
  SKFIQEAKEIDVDAVASDGVVAAIAISEHVENAGVHSGDATLVTPPQDITAKTLERIKAIVHAVGQELQVTGPFN
  LQLIAKDDQLKVIECNVRVSRSFPFVSKTLGVDLVALATRVIMGEEVEPVGLMTGSGVVGVKVPQFSFSRLAGAD
  VVLGVEMTSTGEVAGFGESRCEAYLKAMLSTGFKIPKKNILLTIGSYKNKSELLPTVRLLESLGYSLYASLGTAD
  FYTEHGVKVTAVDWHFEEAVDGECPPQRSILEQLAEKNFELVINLSMRGAGGRRLSSFVTKGYRTRRLAADFSVP
  LIIDIKCTKLFVEALGQIGPAPPLKVHVDCMTSQKLVRLPGLIDVHVHLREPGGTHKEDFASGTAAALAGGITMV
  CAMPNTRPPIIDAPALALAQKLAEAGARCDFALFLGASSENAGTLGTVAGSAAGLKLYLNETFSELRLDSVVQWM
  EHFETWPSHLPIVAHAEQQTVAAVLMVAQLTQRSVHICHVARKEEILLIKAAKARGLPVTCEVAPHHLFLSHDDL
  ERLGPGKGEVRPELGSRQDVEALWENMAVIDCFASDHAPHTLEEKCGSRPPPGFPGLETMLPLLLTAVSEGRLSL
  DDLLQRLHHNPRRIFHLPPQEDTYVEVDLEHEWTIPSHMPFSKAHWTPFEGQKVKGTVRRVVLRGEVAYIDGQVL
  VPPGYGQDVRKWPQGAVPQLPPSAPATSEMTTTPERPRRGIPGLPDGRFHLPPRIHRASDPGLPAEEPKEKSSRK
  VAEPELMGTPDGTCYPPPPVPRQASPQNLGTPGLLHPQTSPLLHSLVGQHILSVQQFTKDQMSHLFNVAHTLRMM
  VQKERSLDILKGKVMASMFYEVSTRTSSSFAAAMARLGGAVLSFSEATSSVQKGESLADSVQTMSCYADVVVLRH
  PQPGAVELAAKHCRRPVINAGDGVGEHPTQALLDIFTIREELGTVNGMTITMVGDLKHGRTVHSLACLLTQYRVS
  LRYVAPPSLRMPPTVRAFVASRGTKQEEFESIEEALPDTDVLYMTRIQKERFGSTQEYEACFGQFILTPHIMTRA
  KKKMVVMHPMPRVNEISVEVDSDPRAAYFRQAENGMYIRMALLATVLGRF

• Structural information:
  • Protein Domains: (177..36-)
    type-1 (/note="Glutamine-amidotransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00605-)
    (519..71-)
    (/note="ATP-grasp-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (1052..124-)
    (/note="ATP-grasp-2)
    (/evidence="-)
  • Interpro: IPR006680  IPR006132  IPR006130  IPR036901  IPR002082   IPR006131  IPR011761  IPR013815  IPR006275  IPR005480  IPR036897  IPR006274  IPR002474  IPR036480  IPR005479  IPR005483  IPR029062  IPR035686  IPR002195  IPR017926  IPR011059  IPR032466  IPR011607  IPR036914  IPR016185  
  • Prosite: PS50975 PS00097 PS00866 PS00867 PS00482 PS00483 PS51273 PS51855
  • CDD: cd01744
  • PDB: 4BY3 4C6B 4C6C 4C6D 4C6E 4C6F 4C6I 4C6J 4C6K 4C6L 4C6M 4C6N 4C6O 4C6P 4C6Q 5G1N 5G1O 5G1P 5YNZ 6HFD 6HFE 6HFF 6HFH 6HFI 6HFJ 6HFK 6HFL 6HFN 6HFP 6HFQ 6HFR 6HFS 6HFU 6HG1
  • PDBsum: 4BY3 4C6B 4C6C 4C6D 4C6E 4C6F 4C6I 4C6J 4C6K 4C6L 4C6M 4C6N 4C6O 4C6P 4C6Q 5G1N 5G1O 5G1P 5YNZ 6HFD 6HFE 6HFF 6HFH 6HFI 6HFJ 6HFK 6HFL 6HFN 6HFP 6HFQ 6HFR 6HFS 6HFU 6HG1
  • DIP: 39484
  • STRING: ENSP00000264705
• Other Databases: GeneCards:  CAD  Malacards:  CAD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IBA	biological process
GO:0006541	glutamine metabolic process	IBA	biological process
GO:0004070	aspartate carbamoyltransferase activity	IBA	molecular function
GO:0004151	dihydroorotase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006228	UTP biosynthetic process	IBA	biological process
GO:0006807	nitrogen compound metabolic process	IBA	biological process
GO:0019240	citrulline biosynthetic process	IBA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0004151	dihydroorotase activity	IDA	molecular function
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IDA	biological process
GO:0004070	aspartate carbamoyltransferase activity	IEA	molecular function
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0016597	amino acid binding	IEA	molecular function
GO:0016743	carboxyl- or carbamoyltransferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	IEA	molecular function
GO:0016812	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004088	carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IEA	biological process
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006221	pyrimidine nucleotide biosynthetic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004151	dihydroorotase activity	IEA	molecular function
GO:0004088	carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0004070	aspartate carbamoyltransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0046134	pyrimidine nucleoside biosynthetic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0051414	response to cortisol	IEA	biological process
GO:0043195	terminal bouton	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0042594	response to starvation	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0032868	response to insulin	IEA	biological process
GO:0019240	citrulline biosynthetic process	IEA	biological process
GO:0017144	drug metabolic process	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0007565	female pregnancy	IEA	biological process
GO:0006228	UTP biosynthetic process	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0004151	dihydroorotase activity	IEA	molecular function
GO:0004070	aspartate carbamoyltransferase activity	IEA	molecular function
GO:0071364	cellular response to epidermal growth factor stimulus	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0033574	response to testosterone	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0031000	response to caffeine	IEA	biological process
GO:0014075	response to amine	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	IEA	biological process
GO:0004088	carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0004070	aspartate carbamoyltransferase activity	ISS	molecular function
GO:0004151	dihydroorotase activity	ISS	molecular function
GO:0004088	carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity	ISS	molecular function
GO:0004672	protein kinase activity	ISS	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0070335	aspartate binding	ISS	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016363	nuclear matrix	IDA	cellular component
GO:0017144	drug metabolic process	ISS	biological process
GO:0042995	cell projection	ISS	cellular component
GO:0043195	terminal bouton	ISS	cellular component
GO:0046777	protein autophosphorylation	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0006207	'de novo' pyrimidine nucleobase biosynthetic process	ISS	biological process
GO:0006541	glutamine metabolic process	ISS	biological process
GO:0018107	peptidyl-threonine phosphorylation	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0044205	'de novo' UMP biosynthetic process	IEA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019899	enzyme binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00240	Pyrimidine metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Congenital disorders of glycosylation type I	KEGG:H00118
Early infantile epileptic encephalopathy	KEGG:H00606
Congenital disorders of glycosylation type I	KEGG:H00118
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq