Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2592
Gene name	Galactose-1-phosphate uridylyltransferase
Gene symbol	GALT
Synonyms (NCBI Gene)	-
Chromosome	9
Chromosome location	9p13.3
Summary	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 result

244

Show/Hide all (244)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2070074	A>G	Other, conflicting-interpretations-of-pathogenicity, benign, pathogenic, likely-benign	Missense variant, coding sequence variant
rs75391579	A>G	Pathogenic	Missense variant, coding sequence variant
rs111033634	C>TT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs111033635	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033636	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033638	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs111033639	A>G	Pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs111033640	GTCA>-,GTCAGTCA	Pathogenic-likely-pathogenic, other, pathogenic, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs111033643	C>A	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033644	T>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033645	C>T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033646	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033647	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033648	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033649	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs111033651	GCTCA>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs111033652	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant, stop gained
rs111033654	G>T	Pathogenic, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033655	CCCTCTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033656	C>A,T	Pathogenic, uncertain-significance, not-provided	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033658	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033659	->G	Pathogenic	Coding sequence variant, frameshift variant
rs111033661	A>G	Pathogenic	Splice acceptor variant, intron variant
rs111033662	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033663	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs111033664	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs111033665	G>A,C	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs111033666	T>C,G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033667	A>C	Pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs111033668	T>C,G	Pathogenic	Coding sequence variant, missense variant, synonymous variant, intron variant
rs111033669	A>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs111033670	G>A,C	Conflicting-interpretations-of-pathogenicity, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs111033673	A>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033674	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant, stop gained
rs111033675	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033676	->A	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs111033677	G>A	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033678	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs111033679	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033680	T>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs111033681	G>A,T	Pathogenic	Intron variant, splice donor variant
rs111033682	A>G	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033683	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033684	T>G	Pathogenic	Coding sequence variant, missense variant
rs111033686	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033687	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033688	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs111033689	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033690	C>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs111033692	A>G	Pathogenic	Coding sequence variant, missense variant
rs111033693	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs111033694	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033695	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs111033697	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs111033699	G>C	Pathogenic	Coding sequence variant, missense variant
rs111033700	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033701	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033702	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs111033704	G>A	Pathogenic	Coding sequence variant, stop gained
rs111033705	C>T	Pathogenic	Coding sequence variant, stop gained
rs111033708	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033709	C>A	Pathogenic	Coding sequence variant, missense variant
rs111033710	T>C	Pathogenic	Splice donor variant
rs111033714	G>C	Pathogenic	Intron variant
rs111033715	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033716	C>G	Pathogenic	Coding sequence variant, missense variant
rs111033717	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033718	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033719	->G	Pathogenic	Coding sequence variant, frameshift variant
rs111033720	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033722	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033723	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs111033725	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs111033726	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033728	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033729	T>G	Pathogenic	Coding sequence variant, missense variant
rs111033730	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033731	A>G	Likely-pathogenic	Splice acceptor variant
rs111033734	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033735	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033736	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs111033737	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs111033738	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs111033739	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033740	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033741	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033742	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs111033743	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs111033744	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs111033746	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs111033747	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033748	T>C	Pathogenic	Splice donor variant
rs111033749	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033750	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033752	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033753	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs111033754	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033755	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033757	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033758	G>A	Pathogenic	Coding sequence variant, stop gained
rs111033759	C>A	Pathogenic	Coding sequence variant, missense variant
rs111033761	G>A,C	Pathogenic	Coding sequence variant, synonymous variant
rs111033762	ATGTGCGGCGGC>-	Pathogenic, uncertain-significance	Coding sequence variant, inframe deletion
rs111033763	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs111033765	A>G	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033766	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs111033767	A>G	Pathogenic	Splice acceptor variant
rs111033768	A>G	Pathogenic, likely-pathogenic	Intron variant
rs111033769	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs111033770	GCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs111033772	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs111033773	G>T	Pathogenic	Coding sequence variant, missense variant
rs111033774	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033775	T>G	Pathogenic	Coding sequence variant, missense variant
rs111033777	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033778	T>A,C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033779	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs111033780	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033781	T>A	Pathogenic	Coding sequence variant, missense variant
rs111033782	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033784	G>A	Pathogenic	Coding sequence variant, missense variant
rs111033785	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033786	A>G	Pathogenic	Coding sequence variant, missense variant
rs111033787	G>T	Pathogenic	Coding sequence variant, missense variant
rs111033788	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033790	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs111033791	G>A	Pathogenic	Coding sequence variant, stop gained
rs111033792	C>A,G,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs111033794	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033795	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033796	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs111033799	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033800	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs111033801	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033802	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033803	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033804	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033806	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs111033808	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033809	A>G	Pathogenic	Coding sequence variant, missense variant
rs111033811	C>G	Likely-pathogenic, benign	Coding sequence variant, synonymous variant
rs111033812	C>A	Pathogenic	Coding sequence variant, missense variant
rs111033813	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs111033814	C>A	Conflicting-interpretations-of-pathogenicity, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs111033815	C>A,G	Pathogenic	Coding sequence variant, missense variant
rs111033816	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033817	A>G	Pathogenic	Coding sequence variant, missense variant
rs111033818	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs111033821	C>T	Pathogenic	Intron variant
rs111033825	->G	Pathogenic	Coding sequence variant, frameshift variant
rs111033826	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033828	T>G	Pathogenic	Coding sequence variant, missense variant
rs111033829	G>A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033830	A>G	Pathogenic	Coding sequence variant, missense variant
rs111033831	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033832	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033833	A>C	Pathogenic	Coding sequence variant, missense variant
rs111033834	G>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033836	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs111033838	TAGTACTGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs111033839	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs111033841	A>T	Pathogenic	Coding sequence variant, missense variant
rs111033843	G>C	Pathogenic	Coding sequence variant, missense variant
rs111033844	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs111033845	C>T	Pathogenic	Coding sequence variant, missense variant
rs111033846	T>C	Pathogenic	Coding sequence variant, missense variant
rs111033848	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs111033849	T>C	Pathogenic	Intron variant, splice donor variant
rs144993986	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs193922247	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, initiator codon variant
rs193922248	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922250	G>T	Likely-pathogenic	Splice donor variant
rs367543252	A>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs367543254	T>C,G	Uncertain-significance, pathogenic	Intron variant, synonymous variant, missense variant, coding sequence variant
rs367543256	C>A,T	Pathogenic, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs367543258	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs367543259	C>T	Pathogenic	Missense variant, coding sequence variant
rs367543263	A>G	Pathogenic	Missense variant, coding sequence variant
rs367543264	G>A	Pathogenic	Intron variant
rs367543265	C>A	Pathogenic	Stop gained, coding sequence variant
rs367543267	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs367543269	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs367543271	G>A,T	Pathogenic	Splice donor variant
rs367543272	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs368166217	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs372134800	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs397515628	->T	Pathogenic	Frameshift variant, coding sequence variant
rs398123179	AAC>-	Likely-pathogenic	Inframe deletion, intron variant, coding sequence variant
rs398123180	C>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, missense variant, coding sequence variant
rs398123181	G>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123182	C>A,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs398123184	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs398123185	A>C	Pathogenic, likely-pathogenic	Splice acceptor variant
rs398123187	A>G	Pathogenic	Splice acceptor variant
rs398123188	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs746285782	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs747036550	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs760189807	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs763662108	->T	Pathogenic	Intron variant, splice donor variant
rs767337193	A>G	Pathogenic	Intron variant
rs768154316	G>A	Pathogenic	Splice donor variant
rs771702963	T>C,G	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant
rs774350978	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775762045	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786200978	->G	Pathogenic	Coding sequence variant, frameshift variant
rs786204763	C>T	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs794726876	T>-	Pathogenic	Splice donor variant
rs794726971	G>A	Pathogenic	Splice acceptor variant
rs794727838	C>A,T	Uncertain-significance, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886042060	G>A	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs886042061	->A	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs886042064	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs886042070	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886042097	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886043390	AC>CT	Likely-pathogenic	Coding sequence variant, missense variant
rs886044409	T>-,TT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, stop gained
rs1034185619	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1057516720	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516883	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517415	A>G	Likely-pathogenic	Splice acceptor variant
rs1057523885	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs1057524572	C>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1064794295	G>A	Pathogenic	Coding sequence variant, stop gained
rs1131691837	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs1225091358	C>T	Likely-pathogenic, pathogenic	Intron variant, stop gained, coding sequence variant
rs1410159094	G>A	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1483461355	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554709110	->GAACCGATCC	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554709139	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554709146	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554709148	G>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554709151	->G	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554709280	A>T	Likely-pathogenic	Splice acceptor variant
rs1554709342	CCAGGTAAGGGTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554709366	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554709447	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554709502	CTGCGCTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554709516	G>T	Likely-pathogenic	Splice donor variant
rs1564100957	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1564101619	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1587236467	AACGCCAGCAGGCGTCAGAG>GACC	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1587239309	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1587240095	TATGACAAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1587240180	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004210	hsa-miR-197-3p	Microarray	16822819
MIRT004220	hsa-miR-346	Microarray	16822819
MIRT030075	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all (1)

Transcription factor	Regulation	Reference
FOXO3	Activation	17975019

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 25910212, 26871637, 28514442, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005794	Component	Golgi apparatus	IDA	20605918
GO:0005829	Component	Cytosol	TAS
GO:0006011	Process	UDP-alpha-D-glucose metabolic process	IDA	27005423
GO:0006012	Process	Galactose metabolic process	IDA	27005423
GO:0006012	Process	Galactose metabolic process	IEA
GO:0006012	Process	Galactose metabolic process	TAS	1427861
GO:0006796	Process	Phosphate-containing compound metabolic process	IEA
GO:0008108	Function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	EXP	1897530
GO:0008108	Function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IBA
GO:0008108	Function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IDA	27005423
GO:0008108	Function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IEA
GO:0008108	Function	UDP-glucose:hexose-1-phosphate uridylyltransferase activity	TAS
GO:0008270	Function	Zinc ion binding	IDA	27005423
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0019637	Process	Organophosphate metabolic process	IEA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	IBA
GO:0033499	Process	Galactose catabolic process via UDP-galactose, Leloir pathway	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

MIM	HGNC	e!Ensembl
606999	4135	ENSG00000213930

P07902

Protein name

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

Protein function

Plays an important role in galactose metabolism.

PDB

5IN3 , 6GQD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01087	GalP_UDP_transf	22 → 196	Galactose-1-phosphate uridyl transferase, N-terminal domain	Domain
PF02744	GalP_UDP_tr_C	202 → 370	Galactose-1-phosphate uridyl transferase, C-terminal domain	Domain

Sequence

MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQ
LLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAK
SARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGC
SNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRA
LPEVHYHLGQKDRETATIA

Sequence length

379

Interactions

View interactions

	KEGG		Reactome
	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars Prolactin signaling pathway		Defective GALT can cause Galactosemia Galactose catabolism

977

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Pathogenic	rs111033667	RCV005888637
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	Likely pathogenic; Pathogenic	rs1554709280, rs111033697, rs2132343638, rs1821187430, rs2132345163, rs111033792, rs2132341560, rs766896883, rs2132341744, rs2132344913, rs2132341442, rs2132344399, rs2132343692, rs1198705438, rs2132344222 View all (205 more)	RCV001377996 RCV001377737 RCV001378380 RCV001378101 RCV001386791 RCV001782172 RCV001802722 RCV002264826 RCV002264827 RCV002264828 RCV001998181 RCV001904815 RCV001929493 RCV001914711 RCV002010834 RCV001993207 RCV002024605 RCV002009876 RCV001941906 RCV001949423 RCV001972550 RCV002033632 RCV002022361 RCV001866904 RCV002246213 RCV002250006 RCV002281538 RCV002302447 RCV002306750 RCV002306797 RCV002309580 RCV002309664 RCV002309987 RCV002310062 RCV002309013 RCV002309083 RCV002310194 RCV002310334 RCV002308433 RCV000003793 RCV000003794 RCV000003795 RCV000003800 RCV000003801 RCV000003802 RCV000003803 RCV000003805 RCV000003807 RCV000003808 RCV000169625 RCV003062205 RCV003609147 RCV000173648 RCV000634556 RCV000686241 RCV002740865 RCV002796091 RCV002815244 RCV002816026 RCV002866375 RCV002881199 RCV002868056 RCV002917934 RCV002867847 RCV002966860 RCV004567823 RCV000319697 RCV001859713 RCV003468247 RCV003461644 RCV003461645 RCV003461646 RCV003461647 RCV003461648 RCV003461650 RCV003461651 RCV003461652 RCV003461653 RCV003502744 RCV003503853 RCV003504451 RCV003609544 RCV003610347 RCV003610410 RCV003608757 RCV003608770 RCV003608763 RCV003610641 RCV003610683 RCV003610968 RCV003609767 RCV003609914 RCV003816755 RCV000264185 RCV003837740 RCV003831837 RCV003988906 RCV003989199 RCV004576654 RCV004576655 RCV004576656 RCV004576657 RCV004576658 RCV000409485 RCV000409875 RCV000409965 RCV000410093 RCV000410683 RCV000409549 RCV000409590 RCV000022038 RCV000022039 RCV000022040 RCV000022043 RCV005238451 RCV000022051 RCV000022052 RCV003062202 RCV001964239 RCV004800251 RCV000022067 RCV000022070 RCV000022073 RCV000022077 RCV000022078 RCV000022079 RCV000022080 RCV002251268 RCV000022085 RCV003062203 RCV003502509 RCV000022103 RCV000022104 RCV000022105 RCV000022107 RCV003317711 RCV001958767 RCV000022114 RCV000022116 RCV003609717 RCV001953723 RCV003062204 RCV000022125 RCV003461649 RCV000022139 RCV003504546 RCV000022146 RCV000022147 RCV000022150 RCV000022151 RCV000022154 RCV000022158 RCV000022161 RCV000022162 RCV000022163 RCV000022164 RCV003504547 RCV000022166 RCV000022167 RCV000022168 RCV000022170 RCV000022172 RCV000022173 RCV002002946 RCV005637701 RCV000022184 RCV000022185 RCV002602800 RCV000022190 RCV000022211 RCV003468248 RCV000022226 RCV000022228 RCV001047213 RCV000022235 RCV000022236 RCV000022244 RCV005238703 RCV000022250 RCV003504549 RCV000022254 RCV003094177 RCV000022261 RCV000022262 RCV000022264 RCV000022266 RCV000022271 RCV000022275 RCV003037321 RCV000022282 RCV000589987 RCV001223654 RCV001857269 RCV000022061 RCV000029818 RCV000022102 RCV000022111 RCV000022113 RCV000022258 RCV000022219 RCV000032013 RCV000032014 RCV000587954 RCV000595136 RCV000671377 RCV000666142 RCV000664855 RCV000669329 RCV000666311 RCV000674843 RCV000673725 RCV000664919 RCV000673179 RCV000671193 RCV000669232 RCV000670473 RCV000673621 RCV000671944 RCV000673298 RCV001862143 RCV003461006 RCV000781404 RCV000805776 RCV000804257 RCV000988176 RCV000988177 RCV000988178 RCV000988179 RCV001000878 RCV001004538 RCV001004539 RCV001004540 RCV001004335 RCV001056094 RCV001057482 RCV001035668 RCV001204828 RCV001263987 RCV001263988 RCV001263989 RCV001263990 RCV001263991 RCV001263992 RCV001263993 RCV001389960 RCV000763196 RCV000781405 RCV000078235 RCV002513821
Galactosemia	Pathogenic; Likely pathogenic	rs2132341744, rs111033695, rs111033800, rs111033715, rs111033690, rs111033773, rs786204763, rs111033813, rs111033674, rs886042070, rs1473851511, rs2492865820, rs1821147877, rs1587237799, rs750226076 View all (39 more)	RCV005614680 RCV001826409 RCV001826410 RCV001831509 RCV001826412 RCV001831510 RCV001831511 RCV001831991 RCV001831994 RCV001276263 RCV001828172 RCV003389286 RCV005616653 RCV005616654 RCV005618332 RCV005618362 RCV001831595 RCV001826489 RCV001826490 RCV001826491 RCV001250222 RCV001831596 RCV001831597 RCV001826492 RCV001826493 RCV001826494 RCV001276270 RCV001835632 RCV001271240 RCV001826496 RCV001271241 RCV001271242 RCV001831598 RCV001831599 RCV001831600 RCV001826497 RCV001831601 RCV001831602 RCV001826498 RCV001271244 RCV001826500 RCV001826501 RCV001835633 RCV001826502 RCV001271248 RCV001835634 RCV005614417 RCV001831616 RCV001831617 RCV001826523 RCV001831618 RCV005614424 RCV001835067 RCV001836062 RCV005614495 RCV001831815
GALT-related disorder	Pathogenic; Likely pathogenic	rs111033695, rs111033690, rs2492864348, rs111033634, rs111033669, rs111033670, rs111033728, rs111033754, rs367543266, rs111033766, rs1554709359, rs398123179, rs398123184	RCV003398436 RCV004752682 RCV003400070 RCV003407352 RCV004730853 RCV003390695 RCV004752718 RCV004752719 RCV004752720 RCV003403535 RCV004752989 RCV003974957 RCV003398667
Ovarian serous cystadenocarcinoma	Pathogenic	rs111033667, rs111033681	RCV005888638 RCV005888639
See cases	Likely pathogenic; Pathogenic	rs111033690	RCV002251865

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs75391579, rs151309174	RCV005887260 RCV005908862
Cervical cancer	Conflicting classifications of pathogenicity	rs75391579	RCV005887262
Classical galactosemia, homozygous Duarte-type	Conflicting classifications of pathogenicity; other	rs111033640	RCV000003809
Colorectal cancer	Conflicting classifications of pathogenicity	rs75391579	RCV005887263
Familial cancer of breast	Conflicting classifications of pathogenicity	rs75391579	RCV005887259
GALT POLYMORPHISM	Benign	rs1800461	RCV000003796
GALT POLYMORPHISM (DUARTE, D2)	Conflicting classifications of pathogenicity; other	rs2070074	RCV000003797
Gastric cancer	Conflicting classifications of pathogenicity	rs151309174	RCV005908864
Glioma susceptibility 1	Conflicting classifications of pathogenicity	rs762136953	RCV005903203
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs75391579	RCV005887261
Melanoma	Conflicting classifications of pathogenicity	rs75391579	RCV005887266
Premature ovarian failure	Conflicting classifications of pathogenicity	rs111033750	RCV001270213
Sarcoma	Conflicting classifications of pathogenicity	rs75391579	RCV005887264
Thymoma	Conflicting classifications of pathogenicity	rs75391579	RCV005887265
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	rs2070075, rs151309174	RCV005888641 RCV005908865
Uterine corpus endometrial carcinoma	Likely benign	rs73501024	RCV005900569
Uveal melanoma	Conflicting classifications of pathogenicity	rs151309174	RCV005908863

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Apraxia Ideomotor	Inhibit	26733289
Apraxia Ideomotor	Associate	30231941
Apraxias	Associate	11397328
Attention Deficit Disorder with Hyperactivity	Associate	33115496
Carcinoma Renal Cell	Associate	26040780
Cataract	Associate	173185, 20222886, 28816213
Chromosome 9 tetrasomy 9p	Associate	6644773
Congenital Abnormalities	Associate	20222886
Endometriosis	Associate	11163832
Fever	Inhibit	30909744
Folate Malabsorption Hereditary	Stimulate	30968626
Folate Malabsorption Hereditary	Associate	30968626
Galactosemias	Associate	10811638, 11113841, 11152465, 11279193, 11397328, 12350230, 12552079, 16540753, 17079880, 173185, 17884932, 1897530, 19224951, 19591794, 20222886 View all (34 more)
Galactosemias	Inhibit	12350230, 20863731, 22461411, 25124065, 25920691, 31029175, 34030713, 9012409
Genetic Diseases Inborn	Associate	19591794, 27578510, 32138379
Hepatoblastoma	Associate	7957929
Infertility Female	Associate	15749517
Inflammation	Associate	30231941
Lens Subluxation	Associate	20222886
Liver Failure Acute	Associate	30987402
Meningism	Associate	30987402
Metabolic Diseases	Associate	8943248
Mullerian aplasia	Associate	3036608
Myopia	Associate	20222886
Ovarian Neoplasms	Associate	11163832, 33921111
Primary Ovarian Insufficiency	Associate	11113841, 16009197
Pupil Disorders	Associate	20222886
Severe Acute Respiratory Syndrome	Associate	20863731

GALT (galactose-1-phosphate uridylyltransferase)