Human Gene GALT (ENST00000378842.8_5) from GENCODE V47lift37
  Description: galactose-1-phosphate uridylyltransferase, transcript variant 1 (from RefSeq NM_000155.4)
Gencode Transcript: ENST00000378842.8_5
Gencode Gene: ENSG00000213930.12_9
Transcript (Including UTRs)
   Position: hg19 chr9:34,646,672-34,651,032 Size: 4,361 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr9:34,646,702-34,650,446 Size: 3,745 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:34,646,672-34,651,032)mRNA (may differ from genome)Protein (379 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GALT_HUMAN
DESCRIPTION: RecName: Full=Galactose-1-phosphate uridylyltransferase; Short=Gal-1-P uridylyltransferase; EC=2.7.7.12; AltName: Full=UDP-glucose--hexose-1-phosphate uridylyltransferase;
CATALYTIC ACTIVITY: UDP-alpha-D-glucose + alpha-D-galactose 1- phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.
COFACTOR: Binds 1 iron ion per subunit (Potential).
COFACTOR: Binds 1 zinc ion per subunit (Potential).
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7); KM=0.43 mM for UDP-glucose (at pH 8.7); Vmax=48 umol/min/mg enzyme;
PATHWAY: Carbohydrate metabolism; galactose metabolism.
SUBUNIT: Homodimer (Probable).
DISEASE: Defects in GALT are the cause of galactosemia (GALCT) [MIM:230400]. Galactosemia is an inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation.
SIMILARITY: Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
WEB RESOURCE: Name=Galactose-1-Phosphate Uridyl Transferase (GALT); Note=Galactosemia mutation database; URL="http://arup.utah.edu/database/GALT/GALT_welcome.php";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GALT";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GALT
Diseases sorted by gene-association score: galactosemia* (1725), galactokinase deficiency with cataracts (27), galactose epimerase deficiency (12), vertebral artery occlusion (11), epimerase deficiency galactosemia (11), carbohydrate metabolic disorder (9), ovarian disease (9), premature ovarian failure 1 (9), lens subluxation (7), mayer-rokitansky-kuster-hauser syndrome (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 48.15 RPKM in Liver
Total median expression: 855.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.8030-0.293 Picture PostScript Text
3' UTR -191.50586-0.327 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001937 - GalP_UDPtransf1
IPR019779 - GalP_UDPtransf1_His-AS
IPR005850 - GalP_Utransf_C
IPR005849 - GalP_Utransf_N
IPR011146 - HIT-like

Pfam Domains:
PF01087 - Galactose-1-phosphate uridyl transferase, N-terminal domain
PF02744 - Galactose-1-phosphate uridyl transferase, C-terminal domain

SCOP Domains:
54197 - HIT-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1R3A - Model


ModBase Predicted Comparative 3D Structure on P07902
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity
GO:0008270 zinc ion binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006011 UDP-glucose metabolic process
GO:0006012 galactose metabolic process
GO:0006258 UDP-glucose catabolic process
GO:0019388 galactose catabolic process
GO:0033499 galactose catabolic process via UDP-galactose

Cellular Component:
GO:0005794 Golgi apparatus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ896859 - Synthetic construct Homo sapiens clone ccsbBroadEn_06253 GALT gene, encodes complete protein.
KR709353 - Synthetic construct Homo sapiens clone CCSBHm_00000803 GALT (GALT) mRNA, encodes complete protein.
KR709354 - Synthetic construct Homo sapiens clone CCSBHm_00000866 GALT (GALT) mRNA, encodes complete protein.
KR709355 - Synthetic construct Homo sapiens clone CCSBHm_00000919 GALT (GALT) mRNA, encodes complete protein.
KR709356 - Synthetic construct Homo sapiens clone CCSBHm_00000938 GALT (GALT) mRNA, encodes complete protein.
LF206422 - JP 2014500723-A/13925: Polycomb-Associated Non-Coding RNAs.
AK314340 - Homo sapiens cDNA, FLJ95101, highly similar to Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), transcript variant 1, mRNA.
AK303279 - Homo sapiens cDNA FLJ59106 complete cds, highly similar to Galactose-1-phosphate uridylyltransferase (EC2.7.7.12).
AK293212 - Homo sapiens cDNA FLJ59837 complete cds, highly similar to Galactose-1-phosphate uridylyltransferase (EC2.7.7.12).
BC015045 - Homo sapiens galactose-1-phosphate uridylyltransferase, mRNA (cDNA clone MGC:9490 IMAGE:3922902), complete cds.
JD066952 - Sequence 47976 from Patent EP1572962.
AK310049 - Homo sapiens cDNA, FLJ17091.
AK096026 - Homo sapiens cDNA FLJ38707 fis, clone KIDNE2002839, highly similar to GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE (EC 2.7.7.10).
AK096137 - Homo sapiens cDNA FLJ38818 fis, clone LIVER2007783, highly similar to Galactose-1-phosphate uridylyltransferase (EC 2.7.7.12).
M60091 - Homo sapiens galactose-1-phosphate uridyl transferase (GALT) mRNA, complete cds.
CU677195 - Synthetic construct Homo sapiens gateway clone IMAGE:100017136 5' read GALT mRNA.
HQ448289 - Synthetic construct Homo sapiens clone IMAGE:100071692; CCSB000300_02 galactose-1-phosphate uridylyltransferase (GALT) gene, encodes complete protein.
KU178089 - Homo sapiens galactose-1-phosphate uridylyltransferase isoform 1 (GALT) mRNA, partial cds.
KU178090 - Homo sapiens galactose-1-phosphate uridylyltransferase isoform 2 (GALT) mRNA, complete cds, alternatively spliced.
BT009852 - Homo sapiens galactose-1-phosphate uridylyltransferase mRNA, complete cds.
AK300070 - Homo sapiens cDNA FLJ53651 complete cds, highly similar to Galactose-1-phosphate uridylyltransferase (EC 2.7.7.12).
LF354293 - JP 2014500723-A/161796: Polycomb-Associated Non-Coding RNAs.
LF354294 - JP 2014500723-A/161797: Polycomb-Associated Non-Coding RNAs.
JD190237 - Sequence 171261 from Patent EP1572962.
JD106529 - Sequence 87553 from Patent EP1572962.
JD509183 - Sequence 490207 from Patent EP1572962.
JD444090 - Sequence 425114 from Patent EP1572962.
JD261304 - Sequence 242328 from Patent EP1572962.
JD495831 - Sequence 476855 from Patent EP1572962.
JD488923 - Sequence 469947 from Patent EP1572962.
JD421201 - Sequence 402225 from Patent EP1572962.
JD095348 - Sequence 76372 from Patent EP1572962.
JD167150 - Sequence 148174 from Patent EP1572962.
JD313810 - Sequence 294834 from Patent EP1572962.
JD213477 - Sequence 194501 from Patent EP1572962.
JD318347 - Sequence 299371 from Patent EP1572962.
AK094689 - Homo sapiens cDNA FLJ37370 fis, clone BRAMY2024593, highly similar to Interleukin-11 receptor alpha chain precursor.
MA441999 - JP 2018138019-A/13925: Polycomb-Associated Non-Coding RNAs.
MA589870 - JP 2018138019-A/161796: Polycomb-Associated Non-Coding RNAs.
MA589871 - JP 2018138019-A/161797: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-422 - D-galactose degradation V (Leloir pathway)

BioCarta from NCI Cancer Genome Anatomy Project
h_g1pPathway - Leloir pathway of galactose metabolism

Reactome (by CSHL, EBI, and GO)

Protein P07902 (Reactome details) participates in the following event(s):

R-HSA-70361 GALT transfers UMP from UDP-Glc to Gal1P to form UDP-Gal
R-HSA-70370 Galactose catabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B4E097, E7ET32, ENST00000378842.1, ENST00000378842.2, ENST00000378842.3, ENST00000378842.4, ENST00000378842.5, ENST00000378842.6, ENST00000378842.7, GALT_HUMAN, NM_000155, P07902, Q14355, Q14356, Q14357, Q14358, Q14359, Q14360, Q14361, Q14363, Q14364, Q14365, Q14369, Q14370, Q14371, Q14372, Q14373, Q14374, Q14375, Q14377, Q14378, Q14380, Q14381, Q14382, Q14383, Q14384, Q14385, Q14386, Q14387, Q14389, Q16766, Q53XK1, Q5VZ81, Q96BY1, uc318ool.1, uc318ool.2
UCSC ID: ENST00000378842.8_5
RefSeq Accession: NM_000155.4
Protein: P07902 (aka GALT_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene GALT:
duarte-gal (Duarte Variant Galactosemia)
dystonia-ov (Hereditary Dystonia Overview)
galactosemia (Classic Galactosemia and Clinical Variant Galactosemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.