Gene Gene information from NCBI Gene database.
Entrez ID 8833
Gene name Guanine monophosphate synthase
Gene symbol GMPS
Synonyms (NCBI Gene)
GATD7
Chromosome 3
Chromosome location 3q25.31
Summary 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
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT020772 hsa-miR-155-5p Proteomics 18668040
MIRT051523 hsa-let-7e-5p CLASH 23622248
MIRT050438 hsa-miR-23a-3p CLASH 23622248
MIRT040905 hsa-miR-18a-3p CLASH 23622248
MIRT716114 hsa-miR-5586-5p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
APBB1 Repression 21453247
KAT5 Repression 21453247
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003921 Function GMP synthase activity IBA
GO:0003921 Function GMP synthase activity IDA 8081953
GO:0003921 Function GMP synthase activity IEA
GO:0003921 Function GMP synthase activity TAS 8089153
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600358 4378 ENSG00000163655
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49915
Protein name GMP synthase [glutamine-hydrolyzing] (EC 6.3.5.2) (GMP synthetase) (Glutamine amidotransferase)
Protein function Catalyzes the conversion of xanthine monophosphate (XMP) to GMP in the presence of glutamine and ATP through an adenyl-XMP intermediate.
PDB 2VPI , 2VXO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00117 GATase 29 210 Glutamine amidotransferase class-I Domain
PF02540 NAD_synthase 219 339 NAD synthase Domain
PF00958 GMP_synt_C 597 692 GMP synthase C terminal domain Domain
Sequence
MALCNGDSKLENAGGDLKDGHHHYEGAVVILDAGAQYGKVIDRRVRELFVQSEIFPLETP
AFAIKEQGFRAIIISGGPNSVYAEDAPWFDPAIFTIGKPVLGICYGMQMMNKVFGGTVHK
KSVREDGVFNISVDNTCSLFRGLQKEEVVLLTHGDSVDKVADGFKVVARSGNIVAGIANE
SKKLYGAQFHPEVGLTENGKVILKNFLYDI
AGCSGTFTVQNRELECIREIKERVGTSKVL
VLLSGGVDSTVCTALLNRALNQEQVIAVHIDNGFMRKRESQSVEEALKKLGIQVKVINAA
HSFYNGTTTLPISDEDRTPRKRISKTLNMTTSPEEKRKI
IGDTFVKIANEVIGEMNLKPE
EVFLAQGTLRPDLIESASLVASGKAELIKTHHNDTELIRKLREEGKVIEPLKDFHKDEVR
ILGRELGLPEELVSRHPFPGPGLAIRVICAEEPYICKDFPETNNILKIVADFSASVKKPH
TLLQRVKACTTEEDQEKLMQITSLHSLNAFLLPIKTVGVQGDCRSYSYVCGISSKDEPDW
ESLIFLARLIPRMCHNVNRVVYIFGPPVKEPPTDVTPTFLTTGVLSTLRQADFEAHNILR
ESGYAGKISQMPVILTPLHFDRDPLQKQPSCQRSVVIRTFITSDFMTGIPATPGNEIPVE
VVLKMVTEIKKIPGISRIMYDLTSKPPGTTEW
E
Sequence length 693
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Drug metabolism - other enzymes
Metabolic pathways
Nucleotide metabolism
  Purine ribonucleoside monophosphate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autoimmune Diseases Autoimmune Diseases BEFREE 24462112
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 22552268 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31072138 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 34520390 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 34520390 Associate
★☆☆☆☆
Found in Text Mining only
Hepatitis B Hepatitis b Pubtator 22552268 Associate
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 29788244
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 11110714 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 11110714 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 36087034 Associate
★☆☆☆☆
Found in Text Mining only