Details for: ALG6

Gene ID: 29929

Symbol: ALG6

Ensembl ID: ENSG00000088035

Description: ALG6 alpha-1,3-glucosyltransferase

Associated with

Cells (max top 100)

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

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 96.4350
    Cell Significance Index: -15.0000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 57.6400
    Cell Significance Index: -14.6200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 40.7091
    Cell Significance Index: -16.7700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 37.4024
    Cell Significance Index: -15.2000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.9676
    Cell Significance Index: -15.2500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.5690
    Cell Significance Index: -16.7300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.4016
    Cell Significance Index: -14.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.3056
    Cell Significance Index: -16.9900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.3315
    Cell Significance Index: 38.4200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2393
    Cell Significance Index: 122.6000
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.9565
    Cell Significance Index: 15.3500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8785
    Cell Significance Index: 793.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7309
    Cell Significance Index: 43.8800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6873
    Cell Significance Index: 111.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6315
    Cell Significance Index: 126.6700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4638
    Cell Significance Index: 320.7900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4294
    Cell Significance Index: 12.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3871
    Cell Significance Index: 76.8300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3769
    Cell Significance Index: 135.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.3594
    Cell Significance Index: 7.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3498
    Cell Significance Index: 24.1900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3301
    Cell Significance Index: 12.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3148
    Cell Significance Index: 19.3500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3118
    Cell Significance Index: 13.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2820
    Cell Significance Index: 8.1300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2653
    Cell Significance Index: 13.7800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.2548
    Cell Significance Index: 6.5100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2499
    Cell Significance Index: 3.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2307
    Cell Significance Index: 26.8900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2206
    Cell Significance Index: 12.3800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.2153
    Cell Significance Index: 5.7500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2109
    Cell Significance Index: 4.5700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1851
    Cell Significance Index: 101.0700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1707
    Cell Significance Index: 7.9600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1554
    Cell Significance Index: 68.7200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.1455
    Cell Significance Index: 3.1100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1422
    Cell Significance Index: 9.5600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1305
    Cell Significance Index: 15.3900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1000
    Cell Significance Index: 12.3000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0938
    Cell Significance Index: 2.2500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0935
    Cell Significance Index: 4.2400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0891
    Cell Significance Index: 6.8400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0839
    Cell Significance Index: 15.1200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0797
    Cell Significance Index: 10.9400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0534
    Cell Significance Index: 1.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0532
    Cell Significance Index: 10.1300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0338
    Cell Significance Index: 0.5800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0283
    Cell Significance Index: 53.2300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0221
    Cell Significance Index: 1.5600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0182
    Cell Significance Index: 24.7400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0148
    Cell Significance Index: 0.5200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0139
    Cell Significance Index: 8.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0129
    Cell Significance Index: 23.8700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0120
    Cell Significance Index: 18.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0112
    Cell Significance Index: 0.7200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0106
    Cell Significance Index: 1.3600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0089
    Cell Significance Index: 0.2600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0028
    Cell Significance Index: -0.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0034
    Cell Significance Index: -1.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0142
    Cell Significance Index: -2.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0147
    Cell Significance Index: -10.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0187
    Cell Significance Index: -14.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0195
    Cell Significance Index: -2.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0218
    Cell Significance Index: -16.1600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0293
    Cell Significance Index: -16.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0305
    Cell Significance Index: -5.2000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0305
    Cell Significance Index: -19.0200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0334
    Cell Significance Index: -1.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0452
    Cell Significance Index: -2.1200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0512
    Cell Significance Index: -14.7200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0559
    Cell Significance Index: -5.7100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0565
    Cell Significance Index: -3.5600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0580
    Cell Significance Index: -1.4900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0739
    Cell Significance Index: -3.8500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0769
    Cell Significance Index: -1.5000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0795
    Cell Significance Index: -1.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0873
    Cell Significance Index: -18.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1055
    Cell Significance Index: -7.8600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1084
    Cell Significance Index: -5.6900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1103
    Cell Significance Index: -12.6400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1150
    Cell Significance Index: -3.1300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1384
    Cell Significance Index: -14.4100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1409
    Cell Significance Index: -2.9500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1621
    Cell Significance Index: -2.0100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1724
    Cell Significance Index: -1.7900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1780
    Cell Significance Index: -5.7000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2049
    Cell Significance Index: -16.2300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2152
    Cell Significance Index: -6.1400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2167
    Cell Significance Index: -4.6000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2221
    Cell Significance Index: -5.8400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2339
    Cell Significance Index: -14.3400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2494
    Cell Significance Index: -8.1700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2546
    Cell Significance Index: -8.1100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2847
    Cell Significance Index: -4.2900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2995
    Cell Significance Index: -3.5700
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: -0.3020
    Cell Significance Index: -2.0100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3163
    Cell Significance Index: -6.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3171
    Cell Significance Index: -9.3400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3178
    Cell Significance Index: -7.9500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3316
    Cell Significance Index: -8.8700

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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: Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol 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 1 EMBL 7 Ensembl 1 ExpressionAtlas 1 GO 9 GeneCards 1 GeneTree 1 GeneWiki 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 6 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: 25792706

Title: Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.

PubMed ID: 25792706

DOI: 10.1093/glycob/cwv018

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.