Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 2592
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol GALT   Gene   UCSC   Ensembl
Gene name galactose-1-phosphate uridylyltransferase
Alternate names galactose-1-phosphate uridylyltransferase, UDP-glucose--hexose-1-phosphate uridylyltransferase, gal-1-P uridylyltransferase, galactose-1-phosphate uridyl transferase,
Gene location 9p13.3 (34646588: 34650597)     Exons: 11     NC_000009.12
Gene summary(Entrez) Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
OMIM 606999

SNPs

 rs2070074

Strand:    Allele origin: G(germline)/A(germline)  Allele change: A/G   Mutation type: snp

AAC83409.1   p.Asn314Asp
CM000671.2   g.34649445A>G
M60091.1   c.940A>G
NC_000009.11   g.34649442A>G
NC_000009.12   g.34649445A>G
NG_009029.1   g.7808A>G
NG_009029.2   g.7857A>G
NG_028966.1   g.2261A>G
NM_000155.1   c.940A>G
NM_000155.3   c.940A>G
NM_001258332.1   c.613A>G
NP_000146.1   p.Asn314Asp
NP_000146.2   p.Asn314Asp
NP_001245261.1   p.Asn205Asp
XP_005251487.1   p.Asn310Asp
XP_005251488.1   p.Asn286Asp
XP_005251489.1   p.Asn266Asp
XP_005251490.1   p.Asn138Asp
XP_005251491.1   p.Asn138Asp
Clinical Significance: Pathogenic

Protein Summary
Protein general information P07902  

Name: Galactose 1 phosphate uridylyltransferase (Gal 1 P uridylyltransferase) (EC 2.7.7.12) (UDP glucose hexose 1 phosphate uridylyltransferase)

Length: 379  Mass: 43,363

Sequence MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLC
PGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAV
VDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQE
LLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRET
ATIA
Structural information
Interpro:  IPR001937 IPR019779 IPR005850 IPR005849 IPR011146
Prosite:   PS00117

Pfam:  		 PF02744 PF01087

PDB:  		 1R3A 5IN3
PDBsum:   1R3A 5IN3
STRING:   ENSP00000368119;
Other Databases GeneCards:  GALT;  Malacards:  GALT

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0005515 protein binding
 IPI molecular_function
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006012 galactose metabolic proce
ss
 TAS biological_process
GO:0006258 UDP-glucose catabolic pro
cess
 IEA biological_process
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 EXP molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0019388 galactose catabolic proce
ss
 TAS biological_process
GO:0003824 catalytic activity
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005975 carbohydrate metabolic pr
ocess
 IEA biological_process
GO:0006012 galactose metabolic proce
ss
 IEA biological_process
GO:0006012 galactose metabolic proce
ss
 IEA biological_process
GO:0006012 galactose metabolic proce
ss
 IEA biological_process
GO:0006012 galactose metabolic proce
ss
 IEA biological_process
GO:0006012 galactose metabolic proce
ss
 TAS biological_process
GO:0006258 UDP-glucose catabolic pro
cess
 IEA biological_process
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 IEA molecular_function
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 IEA molecular_function
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 IEA molecular_function
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 EXP molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0016740 transferase activity
 IEA molecular_function
GO:0016779 nucleotidyltransferase ac
tivity
 IEA molecular_function
GO:0019388 galactose catabolic proce
ss
 TAS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005794 Golgi apparatus
 IDA cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0006012 galactose metabolic proce
ss
 TAS biological_process
GO:0008108 UDP-glucose:hexose-1-phos
phate uridylyltransferase
activity
 EXP molecular_function
GO:0019388 galactose catabolic proce
ss
 TAS biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa04917  Prolactin signaling pathway
hsa00520  Amino sugar and nucleotide sugar metabolism
hsa00052  Galactose metabolism

Diseases

Associated diseases References
Adenomyosis PMID: 11078826
Cancer PMID: 11936817
Cataract PMID: 14707519
Diabetes PMID: 18454942
Endometriosis PMID: 10508229
Female infertility PMID: 15749517
Galactosemia PMID: 11113841, KEGG: H00070,OMIM: 606999
Idiopathic premature ovarian failure (POF) PMID: 16009197, PMID: 16009197
Ovarian failure PMID: 16274605
Endometriosis INFBASE9238674

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11163832 Endometrio
sis


Show abstract
9238674 Endometrio
sis
 GALT (N314D)
144 (33 women w
ith endometrios
is, 111 women f
rom general pop
ulation)
 GALT
 Show abstract