Details for: GALT

Gene ID: 2592

Symbol: GALT

Ensembl ID: ENSG00000213930

Description: galactose-1-phosphate uridylyltransferase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 2.66
    Marker Score: 5509
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.9
    Marker Score: 1700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.42
    Marker Score: 5569
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 1.21
    Marker Score: 3417
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.04
    Marker Score: 1608.5
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16231
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71715
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47938
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2399
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 0.94
    Marker Score: 572
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.93
    Marker Score: 3436.5
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 478
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 0.91
    Marker Score: 3915
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.91
    Marker Score: 2144
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2705
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5238
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4845
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 304
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.84
    Marker Score: 471
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.82
    Marker Score: 1335
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.8
    Marker Score: 1668
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.79
    Marker Score: 527
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.79
    Marker Score: 1596
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.78
    Marker Score: 28746
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.77
    Marker Score: 821.5
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.77
    Marker Score: 542
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.77
    Marker Score: 925
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 302
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.75
    Marker Score: 809
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.74
    Marker Score: 312
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1404
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.74
    Marker Score: 3555
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 561.5
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.73
    Marker Score: 690.5
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.73
    Marker Score: 6828.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.72
    Marker Score: 1228
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.72
    Marker Score: 6851.5
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.72
    Marker Score: 9458
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.71
    Marker Score: 800
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.71
    Marker Score: 1157
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.7
    Marker Score: 850
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 0.7
    Marker Score: 510
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.7
    Marker Score: 465
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.69
    Marker Score: 42344
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 628
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.68
    Marker Score: 1603
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2853.5
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.68
    Marker Score: 35878
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.68
    Marker Score: 185
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.67
    Marker Score: 14388.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.67
    Marker Score: 2597
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.67
    Marker Score: 708
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.66
    Marker Score: 685
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.66
    Marker Score: 713.5
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.65
    Marker Score: 474
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.64
    Marker Score: 342
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.64
    Marker Score: 155.5
  • Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
    Fold Change: 0.64
    Marker Score: 597
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.63
    Marker Score: 6371
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.63
    Marker Score: 574.5
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.63
    Marker Score: 4068
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.62
    Marker Score: 125
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.62
    Marker Score: 3935.5
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.61
    Marker Score: 228
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 0.61
    Marker Score: 662
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.61
    Marker Score: 196
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.61
    Marker Score: 935
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.6
    Marker Score: 2475
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.6
    Marker Score: 187
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 0.6
    Marker Score: 1066
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.59
    Marker Score: 207
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.59
    Marker Score: 138
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.58
    Marker Score: 22205
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.58
    Marker Score: 821
  • Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
    Fold Change: 0.58
    Marker Score: 624
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.57
    Marker Score: 146
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.57
    Marker Score: 1119
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.56
    Marker Score: 195
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.56
    Marker Score: 372
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.56
    Marker Score: 360
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.56
    Marker Score: 180
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.56
    Marker Score: 775
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.56
    Marker Score: 456
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.55
    Marker Score: 186
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 0.55
    Marker Score: 5467
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.55
    Marker Score: 10955
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.55
    Marker Score: 1304
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.55
    Marker Score: 4697
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.55
    Marker Score: 160
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 0.55
    Marker Score: 116
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 0.54
    Marker Score: 931
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.54
    Marker Score: 1465.5
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.53
    Marker Score: 218
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.53
    Marker Score: 2216
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.53
    Marker Score: 7989
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.53
    Marker Score: 214

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Other Information

**Key characteristics:** * GALT is a protein of the cytosol. * It is significantly expressed in the kidney proximal convoluted tubule epithelial cell, extravillous trophoblast, placental villous trophoblast, tracheal goblet cell, L5 extratelencephalic projecting glutamatergic cortical neuron, cardiac muscle myoblast, cerebral cortex GABAergic interneuron, forebrain radial glial cell, and absorptive cell. * It is a glycoprotein with a molecular weight of approximately 140 kDa. **Pathways and functions:** * GALT is involved in the cytoplasm, cytosol, and Golgi apparatus. * It is involved in the galactose catabolic process via UDP-galactose. * It is involved in the regulation of glucose metabolism. **Clinical significance:** * Mutations in the GALT gene have been linked to galactosemia, a genetic disorder characterized by the accumulation of galactose in the blood. * GALT is a therapeutic target for galactosemia. * GALT inhibitors are being investigated as a treatment for galactosemia.

Genular Protein ID: 994410342

Symbol: GALT_HUMAN

Name: Galactose-1-phosphate uridylyltransferase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2840550

Title: Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyl transferase.

PubMed ID: 2840550

PubMed ID: 2233247

Title: Sequence of a cDNA encoding human galactose-1-phosphate uridyl transferase.

PubMed ID: 2233247

PubMed ID: 1427861

Title: The human galactose-1-phosphate uridyltransferase gene.

PubMed ID: 1427861

DOI: 10.1016/s0888-7543(05)80244-7

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 1301925

Title: Genetic basis of galactosemia.

PubMed ID: 1301925

DOI: 10.1002/humu.1380010303

PubMed ID: 22461411

Title: Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

PubMed ID: 22461411

DOI: 10.1002/humu.22093

PubMed ID: 27005423

Title: Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

PubMed ID: 27005423

DOI: 10.1093/hmg/ddw091

PubMed ID: 1897530

Title: Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

PubMed ID: 1897530

PubMed ID: 2011574

Title: Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

PubMed ID: 2011574

DOI: 10.1073/pnas.88.7.2633

PubMed ID: 1610789

Title: Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

PubMed ID: 1610789

DOI: 10.1021/bi00139a002

PubMed ID: 1373122

Title: Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

PubMed ID: 1373122

DOI: 10.1016/0888-7543(92)90453-y

PubMed ID: 8499924

Title: Molecular characterization of the H319Q galactosemia mutation.

PubMed ID: 8499924

DOI: 10.1093/hmg/2.3.325

PubMed ID: 8112740

Title: On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

PubMed ID: 8112740

DOI: 10.1007/bf00210604

PubMed ID: 7887416

Title: Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes.

PubMed ID: 7887416

PubMed ID: 7887417

Title: Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family.

PubMed ID: 7887417

PubMed ID: 8598637

Title: Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

PubMed ID: 8598637

DOI: 10.1007/bf02436001

PubMed ID: 7550229

Title: Molecular characterization of galactosemia (type 1) mutations in Japanese.

PubMed ID: 7550229

DOI: 10.1002/humu.1380060108

PubMed ID: 8741038

Title: Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

PubMed ID: 8741038

DOI: 10.1007/bf01955270

PubMed ID: 8956044

Title: Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

PubMed ID: 8956044

DOI: 10.1002/(sici)1098-1004(1996)8:4<369::aid-humu12>3.0.co;2-0

PubMed ID: 8869397

Title: Molecular basis of galactose-1-phosphate uridyltransferase deficiency involving skeletal muscle.

PubMed ID: 8869397

DOI: 10.1007/bf00878541

PubMed ID: 9222760

Title: Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.

PubMed ID: 9222760

DOI: 10.1002/(sici)1098-1004(1997)10:1<49::aid-humu7>3.0.co;2-h

PubMed ID: 10220154

Title: 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

DOI: 10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s

PubMed ID: 10408771

Title: Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene.

PubMed ID: 10408771

DOI: 10.1002/(sici)1098-1004(1999)13:6<417::aid-humu1>3.0.co;2-0

PubMed ID: 11754113

Title: Molecular analysis in newborns from Texas affected with galactosemia.

PubMed ID: 11754113

DOI: 10.1002/humu.9005

PubMed ID: 11919338

Title: Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test.

PubMed ID: 11919338

DOI: 10.1203/00006450-200204000-00018

PubMed ID: 15841485

Title: Identification of novel mutations in classical galactosemia.

PubMed ID: 15841485

DOI: 10.1002/humu.9330

PubMed ID: 17041746

Title: Mutational spectrum of classical galactosaemia in Spain and Portugal.

PubMed ID: 17041746

DOI: 10.1007/s10545-006-0356-2

PubMed ID: 17876724

Title: Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.

PubMed ID: 17876724

DOI: 10.1007/s10545-007-0461-x

PubMed ID: 18956253

Title: Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.

PubMed ID: 18956253

DOI: 10.1007/s10545-008-0905-y

PubMed ID: 23022339

Title: Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: Identification of 10 novel mutations and their structural and functional implications.

PubMed ID: 23022339

DOI: 10.1016/j.cca.2012.09.017

PubMed ID: 25614870

Title: Functional and structural impact of the most prevalent missense mutations in classic galactosemia.

PubMed ID: 25614870

DOI: 10.1002/mgg3.94

PubMed ID: 25592817

Title: Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

PubMed ID: 25592817

DOI: 10.1016/j.gene.2015.01.013

Sequence Information:

  • Length: 379
  • Mass: 43363
  • Checksum: 99945FF99C4F0066
  • Sequence:
  • MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ 
    LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK 
    SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC 
    SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELLRKE RLVLTSEHWL 
    VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 
    HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA 
    LPEVHYHLGQ KDRETATIA

Genular Protein ID: 1448791045

Symbol: B2RAT6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 379
  • Mass: 43347
  • Checksum: 31508A78404F1DA7
  • Sequence:
  • MSRSGTDPQQ RQQASEADAA AATFRANDHQ HIRYNPLQDE WVLVSAHRMK RPWQGQVEPQ 
    LLKTVPRHDP LNPLCPGAIR ANGEVNPQYD STFLFDNDFP ALQPDAPSPG PSDHPLFQAK 
    SARGVCKVMC FHPWSDVTLP LMSVPEIRAV VDAWASVTEE LGAQYPWVQI FENKGAMMGC 
    SNPHPHCQVW ASSFLPDIAQ REERSQQAYK SQHGEPLLME YSRQELPRKE RLVLTSEHWL 
    VLVPFWATWP YQTLLLPRRH VRRLPELTPA ERDDLASIMK KLLTKYDNLF ETSFPYSMGW 
    HGAPTGSEAG ANWNHWQLHA HYYPPLLRSA TVRKFMVGYE MLAQAQRDLT PEQAAERLRA 
    LPEVHYHLGQ KDRETATIA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.