• Gene id: 8833

Gene Summary

• Gene Symbol: GMPS   Gene   UCSC   Ensembl
• Aliases: GATD7
• Gene name: guanine monophosphate synthase
• Alternate names: GMP synthase [glutamine-hydrolyzing], GMP synthase, GMP synthetase, MLL/GMPS fusion protein, glutamine amidotransferase, guanine monophosphate synthetase, guanosine 5'-monophosphate synthase, testicular tissue protein Li 82,
• Gene location: 3q25.31 (62306161: 62391024)     Exons: 23     NC_000005.10
• Gene summary(Entrez): In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting
• OMIM: 600358

Protein Summary

• Protein general information: P49915  
  • Name: GMP synthase [glutamine hydrolyzing] (EC 6.3.5.2) (GMP synthetase) (Glutamine amidotransferase)
  • Length: 693  
  • Mass: 76715
• Sequence:

  MALCNGDSKLENAGGDLKDGHHHYEGAVVILDAGAQYGKVIDRRVRELFVQSEIFPLETPAFAIKEQGFRAIIIS
  GGPNSVYAEDAPWFDPAIFTIGKPVLGICYGMQMMNKVFGGTVHKKSVREDGVFNISVDNTCSLFRGLQKEEVVL
  LTHGDSVDKVADGFKVVARSGNIVAGIANESKKLYGAQFHPEVGLTENGKVILKNFLYDIAGCSGTFTVQNRELE
  CIREIKERVGTSKVLVLLSGGVDSTVCTALLNRALNQEQVIAVHIDNGFMRKRESQSVEEALKKLGIQVKVINAA
  HSFYNGTTTLPISDEDRTPRKRISKTLNMTTSPEEKRKIIGDTFVKIANEVIGEMNLKPEEVFLAQGTLRPDLIE
  SASLVASGKAELIKTHHNDTELIRKLREEGKVIEPLKDFHKDEVRILGRELGLPEELVSRHPFPGPGLAIRVICA
  EEPYICKDFPETNNILKIVADFSASVKKPHTLLQRVKACTTEEDQEKLMQITSLHSLNAFLLPIKTVGVQGDCRS
  YSYVCGISSKDEPDWESLIFLARLIPRMCHNVNRVVYIFGPPVKEPPTDVTPTFLTTGVLSTLRQADFEAHNILR
  ESGYAGKISQMPVILTPLHFDRDPLQKQPSCQRSVVIRTFITSDFMTGIPATPGNEIPVEVVLKMVTEIKKIPGI
  SRIMYDLTSKPPGTTEWE

• Structural information:
  • Protein Domains: (27..21-)
    type-1 (/note="Glutamine-amidotransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00605-)
    (217..43-)
    (/note="GMPS-ATP-PPase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00886"-)
  • Interpro: IPR029062  IPR017926  IPR001674  IPR004739  IPR025777   IPR022310  IPR014729  
  • Prosite: PS51273 PS51553
  • CDD: cd01742 cd01997
  • PDB: 2VPI 2VXO
  • PDBsum: 2VPI 2VXO
  • STRING: ENSP00000419851
• Other Databases: GeneCards:  GMPS  Malacards:  GMPS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0003922	GMP synthase (glutamine-hydrolyzing) activity	IBA	molecular function
GO:0003921	GMP synthase activity	IBA	molecular function
GO:0006177	GMP biosynthetic process	IBA	biological process
GO:0003922	GMP synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006177	GMP biosynthetic process	IEA	biological process
GO:0016462	pyrophosphatase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006177	GMP biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0003921	GMP synthase activity	TAS	molecular function
GO:0009113	purine nucleobase biosynthetic process	TAS	biological process
GO:0003922	GMP synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0003921	GMP synthase activity	IDA	molecular function
GO:0006177	GMP biosynthetic process	IDA	biological process
GO:0003922	GMP synthase (glutamine-hydrolyzing) activity	EXP	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006177	GMP biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R