Details for: ALG6

Gene ID: 29929

Symbol: ALG6

Ensembl ID: ENSG00000088035

Description: ALG6 alpha-1,3-glucosyltransferase

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.44
    Marker Score: 2,512
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.02
    Marker Score: 942
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.02
    Marker Score: 9,712
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.02
    Marker Score: 4,012
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.01
    Marker Score: 1,566
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.01
    Marker Score: 8,700
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,751
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,975
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.98
    Marker Score: 9,243
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,404
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.94
    Marker Score: 57,862
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,716
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.89
    Marker Score: 3,624
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,291
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4,947
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.84
    Marker Score: 30,954
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.79
    Marker Score: 2,135
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.78
    Marker Score: 3,017
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,266
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.78
    Marker Score: 246
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.76
    Marker Score: 7,871
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 576
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 301
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.75
    Marker Score: 11,190
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.75
    Marker Score: 5,728
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.73
    Marker Score: 3,045
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.73
    Marker Score: 27,754
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.73
    Marker Score: 11,430
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2,925
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 618
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.67
    Marker Score: 840
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.67
    Marker Score: 13,326
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.66
    Marker Score: 875
  • Cell Name: small pre-B-II cell (CL0000954)
    Fold Change: 0.65
    Marker Score: 779
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.64
    Marker Score: 925
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.64
    Marker Score: 644
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.62
    Marker Score: 680
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.62
    Marker Score: 360
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.6
    Marker Score: 5,208
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1,166
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.57
    Marker Score: 12,139
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.56
    Marker Score: 451
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.56
    Marker Score: 696
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.55
    Marker Score: 232
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 433
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.54
    Marker Score: 188
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.54
    Marker Score: 263
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.53
    Marker Score: 360
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.52
    Marker Score: 737
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.51
    Marker Score: 231
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.5
    Marker Score: 1,182
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.5
    Marker Score: 329
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.5
    Marker Score: 478
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.49
    Marker Score: 131
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.49
    Marker Score: 2,013
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.49
    Marker Score: 158
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.49
    Marker Score: 294
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.49
    Marker Score: 303
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.48
    Marker Score: 310
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.48
    Marker Score: 2,013
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.48
    Marker Score: 617
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.47
    Marker Score: 164
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.47
    Marker Score: 260
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.47
    Marker Score: 110
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.47
    Marker Score: 233
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.47
    Marker Score: 195
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.47
    Marker Score: 2,795
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.47
    Marker Score: 415
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.46
    Marker Score: 192
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.46
    Marker Score: 963
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.46
    Marker Score: 397
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.45
    Marker Score: 340
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.45
    Marker Score: 132
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.45
    Marker Score: 2,887
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.45
    Marker Score: 990
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.45
    Marker Score: 325
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.44
    Marker Score: 180
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.44
    Marker Score: 133
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.44
    Marker Score: 744
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.43
    Marker Score: 409
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.43
    Marker Score: 1,601
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.43
    Marker Score: 191
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.43
    Marker Score: 198
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.43
    Marker Score: 977
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.43
    Marker Score: 504
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.43
    Marker Score: 174
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.42
    Marker Score: 83
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.42
    Marker Score: 223
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.42
    Marker Score: 473
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.41
    Marker Score: 431
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.41
    Marker Score: 607
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.41
    Marker Score: 978
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.41
    Marker Score: 152
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.41
    Marker Score: 90

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The ALG6 gene is a single-copy gene, with a relatively small size of approximately 2.5 kilobases. The gene is located on chromosome 14q24.3 and consists of 5 exons that encode for a 441-amino acid protein. The ALG6 protein is a member of the glycosyltransferase family and contains a catalytic domain, which is essential for its enzymatic activity. The protein is primarily expressed in the ER, where it localizes to the membrane and interacts with other glycosyltransferases to form a complex. The ALG6 protein has been shown to have a high degree of specificity for the transfer of glucose residues to dolichol lipid-linked oligosaccharides, making it a key player in the biosynthesis of N-glycans. **Pathways and Functions** The ALG6 gene is involved in several critical pathways, including: 1. **Asparagine N-linked Glycosylation**: ALG6 plays a crucial role in the biosynthesis of N-glycans, which are essential for the correct folding, stability, and function of proteins in the ER. 2. **Biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, DLO)**: ALG6 is responsible for the transfer of glucose residues to DLOs, which are the precursors to N-glycans. 3. **Transfer to a nascent protein**: ALG6 interacts with other glycosyltransferases to form a complex that transfers DLOs to nascent proteins, marking the initiation of N-glycosylation. **Clinical Significance** Mutations or deficiencies in the ALG6 gene have been linked to Congenital Dysgalactosialipoproteinemia type 1c (CDG-1c), a rare genetic disorder characterized by: 1. **Neurological impairments**: CDG-1c is associated with severe neurological abnormalities, including intellectual disability, seizures, and ataxia. 2. **Developmental delays**: Infants with CDG-1c often experience significant developmental delays, including delayed speech and language development. 3. **Glycosylation defects**: ALG6-deficient individuals exhibit abnormal glycosylation patterns, which can lead to protein misfolding and aggregation. In conclusion, the ALG6 gene plays a critical role in the biosynthesis of N-glycans, which are essential for maintaining cellular homeostasis. Mutations or deficiencies in the ALG6 gene have significant clinical implications, leading to Congenital Dysgalactosialipoproteinemia type 1c, a rare genetic disorder characterized by severe neurological and developmental impairments. Further research into the function and regulation of the ALG6 gene is essential for the development of effective therapeutic strategies for individuals affected by this disorder.

Genular Protein ID: 904435666

Symbol: ALG6_HUMAN

Name: Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

UniProtKB Accession Codes:

Q9Y672 B3KMU2 Q5SXR9 Q9H3I0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 2 EMBL 7 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 5 SMR 1 STRING 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10359825

Title: A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

PubMed ID: 10359825

DOI: 10.1073/pnas.96.12.6982

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 11106564

Title: Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

PubMed ID: 11106564

DOI: 10.1016/s0002-9440(10)64830-4

PubMed ID: 10914684

Title: Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.

PubMed ID: 10914684

DOI: 10.1007/s004390000293

PubMed ID: 10924277

Title: Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic.

PubMed ID: 10924277

DOI: 10.1006/mgme.2000.3017

PubMed ID: 11558905

Title: The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.

PubMed ID: 11558905

DOI: 10.1007/s100380170038

PubMed ID: 11134235

Title: A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

PubMed ID: 11134235

DOI: 10.1136/jmg.38.1.14

PubMed ID: 12357336

Title: DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PubMed ID: 12357336

DOI: 10.1038/sj.ejhg.5200858

PubMed ID: 11875054

Title: A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

PubMed ID: 11875054

DOI: 10.1093/hmg/11.5.599

PubMed ID: 14517965

Title: Identification of a frequent variant in ALG6, the cause of congenital disorder of glycosylation-Ic.

PubMed ID: 14517965

DOI: 10.1002/humu.9195

Sequence Information:

  • Length: 507
  • Mass: 58121
  • Checksum: 8BAC4BA9B8E366B9
  • Sequence:
    • MEKWYLMTVV VLIGLTVRWT VSLNSYSGAG KPPMFGDYEA QRHWQEITFN LPVKQWYFNS 
SDNNLQYWGL DYPPLTAYHS LLCAYVAKFI NPDWIALHTS RGYESQAHKL FMRTTVLIAD 
LLIYIPAVVL YCCCLKEIST KKKIANALCI LLYPGLILID YGHFQYNSVS LGFALWGVLG 
ISCDCDLLGS LAFCLAINYK QMELYHALPF FCFLLGKCFK KGLKGKGFVL LVKLACIVVA 
SFVLCWLPFF TEREQTLQVL RRLFPVDRGL FEDKVANIWC SFNVFLKIKD ILPRHIQLIM 
SFCSTFLSLL PACIKLILQP SSKGFKFTLV SCALSFFLFS FQVHEKSILL VSLPVCLVLS 
EIPFMSTWFL LVSTFSMLPL LLKDELLMPS VVTTMAFFIA CVTSFSIFEK TSEEELQLKS 
FSISVRKYLP CFTFLSRIIQ YLFLISVITM VLLTLMTVTL DPPQKLPDLF SVLVCFVSCL 
NFLFFLVYFN IIIMWDSKSG RNQKKIS

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.