Details for: GALC

Gene ID: 2581

Symbol: GALC

Ensembl ID: ENSG00000054983

Description: galactosylceramidase

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: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.36
    Marker Score: 41905
  • Cell Name: basophil (CL0000767)
    Fold Change: 1.17
    Marker Score: 556
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.16
    Marker Score: 1794
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.11
    Marker Score: 10552
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.06
    Marker Score: 64909
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.02
    Marker Score: 15967
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 1.01
    Marker Score: 454
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71726
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47951
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.99
    Marker Score: 21180
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.98
    Marker Score: 8443
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30396
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.96
    Marker Score: 578
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2402
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 483
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.92
    Marker Score: 1615.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.92
    Marker Score: 33779
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2713
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.9
    Marker Score: 3099
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9
    Marker Score: 3464
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5248
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.87
    Marker Score: 3524
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4937
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.85
    Marker Score: 7404
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.84
    Marker Score: 31948
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.83
    Marker Score: 6395
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.83
    Marker Score: 7761
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.82
    Marker Score: 757
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.82
    Marker Score: 8479
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.8
    Marker Score: 11996
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.8
    Marker Score: 4782
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.78
    Marker Score: 1838
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.78
    Marker Score: 1865
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.78
    Marker Score: 15466
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 588.5
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.77
    Marker Score: 4675
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.75
    Marker Score: 507
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 299
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.74
    Marker Score: 320
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.74
    Marker Score: 18923
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.73
    Marker Score: 236
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3020.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.72
    Marker Score: 2981
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.71
    Marker Score: 1548.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.7
    Marker Score: 804
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 611
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.66
    Marker Score: 706
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.65
    Marker Score: 377
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.63
    Marker Score: 547
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.63
    Marker Score: 757
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.63
    Marker Score: 297
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.62
    Marker Score: 217
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.61
    Marker Score: 247
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.61
    Marker Score: 3612
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.61
    Marker Score: 1153
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.61
    Marker Score: 606.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.6
    Marker Score: 189
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.58
    Marker Score: 386
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.58
    Marker Score: 319
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.55
    Marker Score: 415
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.55
    Marker Score: 263
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.55
    Marker Score: 592
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.55
    Marker Score: 135
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.54
    Marker Score: 2274.5
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.54
    Marker Score: 200
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 431
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 0.54
    Marker Score: 480
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.54
    Marker Score: 528
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.53
    Marker Score: 2565
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.53
    Marker Score: 328
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.52
    Marker Score: 151
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.52
    Marker Score: 120
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.51
    Marker Score: 235
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 0.51
    Marker Score: 421
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.51
    Marker Score: 5125.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.51
    Marker Score: 628
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.51
    Marker Score: 975
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.5
    Marker Score: 113
  • Cell Name: NKp44-positive group 3 innate lymphoid cell, human (CL0001079)
    Fold Change: 0.5
    Marker Score: 113
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.5
    Marker Score: 201
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.49
    Marker Score: 329
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.49
    Marker Score: 113
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.49
    Marker Score: 110
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.49
    Marker Score: 117
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.49
    Marker Score: 475
  • Cell Name: B-1b B cell (CL0000821)
    Fold Change: 0.48
    Marker Score: 111
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.48
    Marker Score: 677
  • Cell Name: B-1a B cell (CL0000820)
    Fold Change: 0.48
    Marker Score: 115
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 0.48
    Marker Score: 577
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.48
    Marker Score: 559
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.48
    Marker Score: 179
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.48
    Marker Score: 126
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.47
    Marker Score: 124
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.47
    Marker Score: 163
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.47
    Marker Score: 751

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Other Information

**Key characteristics:** * The GALC gene is located on chromosome 15q21.1. * It is a large gene with a size of approximately 10.5 kb. * The protein encoded by GALC is a glycosyltransferase that catalyzes the transfer of a galactose molecule from galactosylceramide to a ceramide molecule. **Pathways and functions:** * GALC is involved in a variety of cellular processes, including: * Galactosylceramide catabolic process * Glycosphingolipid catabolic process * Glycosphingolipid metabolism * Lysosomal lumen * Lysosome * Metabolism of lipids * Myelination * Sphingolipid metabolism **Clinical significance:** * Mutations in the GALC gene have been linked to a number of human diseases, including: * Galactocerebrolysis * Cerebrovascular disease * Neurodegenerative diseases **Additional notes:** * GALC is a highly conserved gene, with a similar sequence found in organisms from different species. * The encoded protein is a glycosyltransferase, which means that it catalyzes the transfer of a galactose molecule from galactosylceramide to a ceramide molecule. * GALC is a key enzyme in the degradation of galactosylceramide, which is a lipid molecule that is involved in the maintenance of brain health.

Genular Protein ID: 3407431956

Symbol: GALC_HUMAN

Name: Galactocerebroside beta-galactosidase

UniProtKB Accession Codes:

P54803 B4DKE8 B4DYN1 B4DZJ8 B7Z7Z2 J3KN25 J3KPP8 Q8J030

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 3 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 26 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 6 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 6 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7601472

Title: Structure and organization of the human galactocerebrosidase (GALC) gene.

PubMed ID: 7601472

DOI: 10.1016/0888-7543(95)80230-j

PubMed ID: 9434153

Title: Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.

PubMed ID: 9434153

DOI: 10.1016/s0167-4781(97)00140-1

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 8281145

Title: Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

PubMed ID: 8281145

DOI: 10.1093/hmg/2.11.1841

PubMed ID: 8297359

Title: Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase.

PubMed ID: 8297359

DOI: 10.1006/bbrc.1994.1071

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: 8399327

Title: Galactocerebrosidase from human urine: purification and partial characterization.

PubMed ID: 8399327

DOI: 10.1016/0005-2760(93)90175-9

PubMed ID: 10833326

Title: Krabbe disease: genetic aspects and progress toward therapy.

PubMed ID: 10833326

DOI: 10.1006/mgme.2000.2990

PubMed ID: 7581365

Title: A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease.

PubMed ID: 7581365

DOI: 10.1093/hmg/4.8.1285

PubMed ID: 8595408

Title: Molecular defects in Krabbe disease.

PubMed ID: 8595408

DOI: 10.1093/hmg/4.10.1865

PubMed ID: 8940268

Title: Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

PubMed ID: 8940268

PubMed ID: 8687180

Title: Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

PubMed ID: 8687180

DOI: 10.1002/ana.410400119

PubMed ID: 8786069

Title: Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

PubMed ID: 8786069

DOI: 10.1007/bf02185759

PubMed ID: 9272171

Title: Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.

PubMed ID: 9272171

DOI: 10.1007/s004390050532

PubMed ID: 9338580

Title: Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.

PubMed ID: 9338580

DOI: 10.1002/(sici)1098-1004(1997)10:4<268::aid-humu2>3.0.co;2-d

PubMed ID: 10477434

Title: Molecular basis of late-life globoid cell leukodystrophy.

PubMed ID: 10477434

DOI: 10.1002/(sici)1098-1004(1999)14:3<256::aid-humu9>3.0.co;2-6

PubMed ID: 10234611

Title: Molecular heterogeneity of Krabbe disease.

PubMed ID: 10234611

DOI: 10.1023/a:1005449919660

PubMed ID: 17579360

Title: A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

PubMed ID: 17579360

DOI: 10.1002/humu.9500

PubMed ID: 20886637

Title: Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

PubMed ID: 20886637

DOI: 10.1002/humu.21367

PubMed ID: 23462331

Title: Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

PubMed ID: 23462331

DOI: 10.1016/j.gene.2013.02.010

PubMed ID: 34449528

Title: Advances in the Diagnosis and Treatment of Krabbe Disease.

PubMed ID: 34449528

DOI: 10.3390/ijns7030057

Sequence Information:

  • Length: 685
  • Mass: 77063
  • Checksum: 03F3D223381AD5B1
  • Sequence:
    • MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA 
VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA 
LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV 
GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD 
AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY 
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT 
VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI 
PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP 
PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT 
WAADASNTIS IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF 
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL WTDIPVNFPK 
NGWAAIGTHS FEFAQFDNFL VEATR

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.