GALT Gene
protein-coding GIFtS: 66
GCID: GC09P034636
|
|
galactose-1-phosphate uridylyltransferase
| |
Aliases
for GALT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Galactose-1-Phosphate Uridylyltransferase1 2 | | Gal-1-P Uridylyltransferase2 3 | | UDP-Glucose--Hexose-1-Phosphate Uridylyltransferase2 3 | | Galactose-1-Phosphate Uridyl Transferase2 | | EC 2.7.7.123 |
Export aliases for GALT gene to outside databasesPrevious GC identifers: GC09P034958 GC09P034816 |
Summaries
for GALT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for GALT:
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactosemetabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. Theabsence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose isnot removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variantsencoding different isoforms have been found for this gene. (provided by RefSeq, Apr 2012)
Gene Wiki entry for GALT (Galactoseâ€"1-phosphate uridylyltransferase)
|
Genomic Views
for GALT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008413.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GALT gene promoter:
USF1 p53 AP-1 USF-1 ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for GALT
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALT |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p13 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13GALT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P034636: view genomic region
(about GC identifiers)
Start:
|
34,638,130 bp from pter |
End:
|
34,651,032 bp from pter |
Size:
|
12,903 bases |
Orientation:
|
plus strand |
|
Proteins
for GALT gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: GALT_HUMAN, P07902 (See
protein sequence)Recommended Name: Galactose-1-phosphate uridylyltransferase Size: 379 amino acids; 43363 Da
Cofactor: Binds 1 iron ion per subunit (Potential)
Cofactor: Binds 1 zinc ion per subunit (Potential)
Subunit: Homodimer (Probable)
1 PDB 3D structure from  and Proteopedia  for GALT:1R3A (3D)
Secondary accessions: B4E097 E7ET32 Q14355 Q14356 Q14357 Q14358 Q14359 Q14360 Q14361 Q14363 Q14364Q14365 Q14369 Q14370 Q14371 Q14372 Q14373 Q14374 Q14375 Q14377 Q14378 Q14380 Q14381 Q14382 Q14383Q14384 Q14385 Q14386 Q14387 Q14389 Q16766 Q53XK1 Q5VZ81 Q96BY1Alternative splicing: 2 isoforms: P07902-1 P07902-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for GALT: NX_P07902
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P07902
GALT Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000146.2 NP_001245261.1
ENSEMBL proteins: ENSP00000451435 ENSP00000432839 ENSP00000368119 ENSP00000450942 ENSP00000450419 ENSP00000451756 ENSP00000401956 Reactome Protein details: P07902
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
GALT for ontologies About GeneDecksing
GALT Antibody Products:
Assay Products for GALT: |
Protein
Domains /
Families
for GALT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GALT for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P07902ProtoNet protein and cluster: P07902 1 Blocks protein family: IPB001937 Galactose-1-phosphate uridyl transferase
UniProtKB/Swiss-Prot: GALT_HUMAN, P07902Similarity: Belongs to the galactose-1-phosphate uridylyltransferase type 1 family |
Function
for GALT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: GALT_HUMAN, P07902Catalytic activity: UDP-alpha-D-glucose + alpha-D-galactose 1-phosphate = alpha-D-glucose 1-phosphate +UDP-alpha-D-galactoseBiophysicochemical properties: Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7); KM=0.43 mMfor UDP-glucose (at pH 8.7); Vmax=48 umol/min/mg enzyme; Genatlas biochemistry entry for GALT:galactose-1-phosphate uridyltransferase
Enzyme Number (IUBMB): EC 2.7.7.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALT
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: GALT (NM_000155) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GALT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALT |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALT |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008108 | UDP-glucose:hexose-1-phosphate uridylyltransferase activity |
IEA | -- | | GO:0008270 | zinc ion binding |
IEA | -- |
GALT for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for GALT:
Animal Models:
Mouse knock-out Galttm1Sgl for GALT
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Galt):
GALT for phenotypes About GeneDecksing
|
Pathways & Interactions
for GALT gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Galactose metabolism | | | 2 | Metabolism | | | 3 | galactose degradation I (Leloir pathway) | | | 4 | Amino sugar and nucleotide sugar metabolism | | | 5 | MPS IIIC - Sanfilippo syndrome C | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for GALT
1  GeneGo (Thomson Reuters) Pathway for GALT
2  BioSystems Pathways for GALT
3 
Reactome Pathways for GALT
3 
Kegg Pathways (Kegg details for GALT):
UniProtKB/Swiss-Prot: GALT_HUMAN, P07902Pathway: Carbohydrate metabolism; galactose metabolism
GALT for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GALT
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/88 Interacting proteins for GALT (P079023 ENSP000003681194) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
GALT for ontologies About GeneDecksing
|
Drugs & Compounds
for GALT gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
GALT for compounds About GeneDecksing
 Browse Tocris compounds for GALT
5 HMDB Compounds for GALT About this table
10/28 Novoseek chemical compound relationships for GALT gene (see all 28) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| galactose-1-phosphate |
98 |
189 |
8836578 (3), 11152465 (3), 1931160 (2), 17486650 (2) (see all 99) |
| galactose |
89.3 |
159 |
11152465 (5), 20075179 (4), 11936817 (4), 7671974 (3) (see all 73) |
| udpglucose |
84.4 |
44 |
16125333 (3), 20359473 (3), 15862277 (2), 16260165 (2) (see all 18) |
| mannitol |
60 |
6 |
10535394 (1), 11092512 (1), 12595586 (1), 18428423 (1) (see all 6) |
| gluconate |
59.8 |
3 |
9826225 (1), 9396569 (1), 14680973 (1) |
| lactose |
55.1 |
5 |
7671974 (1), 11936817 (1), 18454942 (1), 12370157 (1) |
| asparagine |
45.2 |
6 |
7671959 (1), 11936817 (1), 8198125 (1), 15835923 (1) |
| ribose |
32.2 |
2 |
12468275 (1) |
| arginine |
23.8 |
5 |
7671959 (1), 10037750 (1), 8598637 (1), 7927329 (1) |
| n-acetylglucosamine |
23.8 |
2 |
9011380 (1), 11485999 (1) |
Search CenterWatch for drugs/clinical trials and news about GALT
|
Transcripts
for GALT gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for GALT gene (2 alternative transcripts): NM_000155.3 NM_001258332.1 Unigene Cluster for GALT: Galactose-1-phosphate uridylyltransferase Hs.522090 [show with all ESTs]Unigene Representative Sequence: NM_00015518/28 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 28): ENST00000465543 ENST00000468099 ENST00000554550 ENST00000473506 ENST00000557541
ENST00000554139 ENST00000473529 ENST00000378842(uc003zve.3 uc003zvf.3)
ENST00000472111 ENST00000554897 ENST00000554944 ENST00000555020 ENST00000489643
ENST00000554085 ENST00000487381 ENST00000554638 ENST00000555214 ENST00000556403
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALT
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: GALT (NM_000155) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GALT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALT |
Additional cDNA sequence: AK300070.1 AK303279.1 AK314340.1 BC015045.2 BT009852.1 M60091.1 24/30 DOTS entries (see all 30): DT.416078 DT.97861985 DT.100818551 DT.40255414 DT.97861990 DT.437477 DT.100803373 DT.100818556 DT.121165496 DT.95246637 DT.100818549 DT.95246626 DT.121165438 DT.100766052 DT.100818557 DT.121165523 DT.100790062 DT.100818554 DT.121165542 DT.95246636 DT.100818548 DT.97793409 DT.100790054 DT.121165415 2 AceView cDNA sequences: AA357883 AI865549
GeneLoc Exon Structure
|
Expression
for GALT gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| GALT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTGGCTACG
About this image
See GALT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GALT
SOURCE GeneReport for Unigene cluster: Hs.522090
SABiosciences Custom PCR Arrays for GALT
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GALT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALT | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALT |
Orthologs
for GALT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for GALT gene from 11/30 species (see all 30) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Galt1 , 5 |
galactose-1-phosphate uridyl transferase1, 5 |
87.09(n)1
91.64(a)1 |
|
4 (22.07 cM)5
144301 NM_016658.21 NP_057867.21
417552285 |
chicken
(Gallus gallus) |
Aves |
GALT1 |
galactose-1-phosphate uridylyltransferase |
72.5(n)
74.86(a) |
|
431509 XM_429060.3 XP_429060.3 |
lizard
(Anolis carolinensis) |
Reptilia |
GALT6 |
-- |
72(a) |
1 ↔ 1 |
GL343305.1(72565-97528) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.150332 |
Xenopus laevis transcribed sequence with weak similarity more |
78.28(n) |
|
BJ031226.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
galt1 |
galactose-1-phosphate uridylyltransferase |
67.82(n)
71.92(a) |
|
791130 NM_001080612.1 NP_001074081.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG92323
Galt1 |
UTP-galactose-1-phosphate
uridylyltransferase3
Galactose-1-phosphate uridylyltransferase1 |
57(a)3
59.77(n)1
58.31(a)1 |
|
26F53
339351 NM_135218.21 NP_609062.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
ZK1058.31 , 3 |
galactose-1-phosphate uridylyltransferase3
Protein ZK1058.31 |
49(a)3
53.95(n)1
51.35(a)1 |
|
III(3990677-3992442)3
1755061 NM_065388.31 NP_497789.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
GAL7(YBR018C)4
GAL71 |
Galactose-1-phosphate uridyl transferase, synthesizes more4
Gal7p1 |
52.14(n)1
48.25(a)1 |
|
2(275527-274427)4
8523061, 4 NP_009574.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT5G182006 |
galactose-1-phosphate uridylyltransferase |
20(a) |
1 ↔ 1 |
5(6015225-6016782) |
rice
(Oryza sativa) |
Liliopsida |
-- |
galactose-1-phosphate uridyl transferase, putative... |
23(a) |
1 ↔ 1 |
7(3761247-3765454) |
ENSEMBL Gene Tree for GALT (if available)
TreeFam Gene Tree for GALT (if available) |
Paralogs
for GALT gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for GALT gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for GALT (34638130 - 34651032 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for GALT
2 CNVs: 9615 6686
Human Gene Mutation Database (HGMD): GALT
Locus Specific Mutation Databases (LSDB): GALT
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALT |
|
Disorders
/ Diseases
for GALT gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GALT for disorders About GeneDecksing
OMIM gene information: 606999
OMIM disorders: 230400
UniProtKB/Swiss-Prot: GALT_HUMAN, P07902
Defects in GALT are the cause of galactosemia (GALCT) [MIM:230400]. Galactosemia is an inherited disorder ofgalactose metabolism that causes jaundice, cataracts, and mental retardation
20/23  diseases for GALT (see all 23): About MalaCardsmayer-rokitansky-kuster-hauser syndrome rokitansky-kuster-hauser syndrome galactosemia lens subluxation
galactokinase deficiency premature ovarian failure metabolic disorders cataract
jaundice endometriosis myopia hypogonadism
ovarian cancer genetic disease hypotonia hepatitis b
hepatoblastoma diarrhea vaginitis infertility
2 diseases from the University of Copenhagen DISEASES database for GALT:Galactosemia Premature ovarian failure 10/17 Novoseek disease relationships for GALT gene (see all 17) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| galactosemias |
98.3 |
125 |
16540753 (4), 10649501 (3), 7671974 (3), 8421669 (3) (see all 79) |
| classical galactosemia |
96.8 |
18 |
9222760 (2), 9766850 (2), 10408771 (2), 7671959 (1) (see all 14) |
| dyspraxia verbal |
88.5 |
2 |
12595586 (1), 7671960 (1) |
| gale deficiency |
82.5 |
2 |
14970742 (1), 11001796 (1) |
| galactokinase deficiency |
73.3 |
2 |
12705493 (1) |
| ovarian failure premature |
72.3 |
5 |
11113841 (1), 15202737 (1), 18089596 (1), 8405535 (1) (see all 5) |
| ovarian dysfunction |
57 |
1 |
7671960 (1) |
| cataract |
52.9 |
16 |
14707519 (5), 18454942 (4), 8741038 (1), 8336207 (1) (see all 9) |
| hepatomegaly |
51 |
2 |
8598637 (1), 8326330 (1) |
| developmental delay |
40.7 |
1 |
7671974 (1) |
Genatlas disease: GALT galactosemia,type I,characterized by feeding difficulties, vomiting,lethargy,diarrhea,jaundice,hepatomegaly,failure tothrive and cataract with high levels of galactose and galactitol in urine despite dietary restriction,developmentaldelay,ovarian failure and other neurological and psychological abnormalities are common
GeneTests: GALT
Galactosemia
Genetic Association Database (GAD): GALT
Human Genome Epidemiology (HuGE) Navigator: GALT (27 documents)
Export disorders for GALT gene to outside databases
|
Publications
for GALT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for GALT gene, integrated from 9 sources (see all 222):
(articles sorted by number of sources associating them with GALT) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. (PubMed id 11919338)1, 2, 4, 9 Item C....Strobl W. (2002)
- Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. (PubMed id 7887416)1, 2, 9 Elsas L.J.... Dembure P.P. (1995)
- Galactose-1-phosphate uridyl transferase (GALT) genotype and phenotype, galactose consumption, and the risk of borderline and invasive ovarian cancer (United States). (PubMed id 11936817)1, 4, 9 Cozen W....Pike M.C. (2002)
- Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene. (PubMed id 10408771)1, 2, 9 Tyfield L.... Boleda M.D. (1999)
- On the molecular nature of the Duarte variant of galactose-1- phosphate uridyl transferase (GALT). (PubMed id 8112740)1, 2, 9 Lin H.-C.... Reichardt J.K.V. (1994)
- Association of galactose-1-phosphate uridyltransferase activity and N314D genotype with the risk of ovarian cancer. (PubMed id 12370157)1, 4, 9 Goodman M.T....Ng W.G. (2002)
- Endometriosis is not associated with or linked to the GALT gene. (PubMed id 11704127)1, 4, 9 Stefansson H....Stefansson K. (2001)
- Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. (PubMed id 10220154)1, 2, 9 Seyrantepe V.... Reichardt J.K.V. (1999)
- Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase. (PubMed id 2011574)1, 2, 9 Reichardt J.K.V. and Woo S.L.C. (1991)
- Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. (PubMed id 17876724)1, 2, 9 Calderon F.R....Mao R. (2007)
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External Searches for GALT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing GALT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing GALT gene
(According to HUGE)
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Specialized Databases showing GALT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for GALT | Pharmacogenomics, SNPs, Pathways | | Galactose-1-Phosphate Uridyl Transferase (GALT) | http://arup.utah.edu/database/GALT/GALT_welcome.php | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALT |
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| Patent Information for GALT gene:
Search GeneIP for patents involving GALT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for GALT gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for GALT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GALT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GALT | | | OriGene Protein Over-expression Lysate for GALT | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for GALT | | OriGene 3'-UTR Clone for GALT | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GALT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GALT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for GALT | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for GALT | | OriGene Custom Protein Services for GALT | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GALT | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GALT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GALT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GALT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GALT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GALT |
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| | | | Search Tocris compounds for GALT |
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 | | | GALT Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GALT |
|  |  |  | | | | Search ThermoFisher Antibodies for GALT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GALT |
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