Details for: ALG5

Gene ID: 29880

Symbol: ALG5

Ensembl ID: ENSG00000120697

Description: ALG5 dolichyl-phosphate beta-glucosyltransferase

Associated with

  • Asparagine n-linked glycosylation
    (R-HSA-446203)
  • Biosynthesis of the n-glycan precursor (dolichol lipid-linked oligosaccharide, llo) and transfer to a nascent protein
    (R-HSA-446193)
  • Metabolism of proteins
    (R-HSA-392499)
  • Post-translational protein modification
    (R-HSA-597592)
  • Synthesis of dolichyl-phosphate-glucose
    (R-HSA-480985)
  • Synthesis of substrates in n-glycan biosythesis
    (R-HSA-446219)
  • Cytoplasmic side of rough endoplasmic reticulum membrane
    (GO:0098556)
  • Determination of left/right symmetry
    (GO:0007368)
  • Dolichol-linked oligosaccharide biosynthetic process
    (GO:0006488)
  • Dolichyl-phosphate beta-glucosyltransferase activity
    (GO:0004581)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Membrane
    (GO:0016020)
  • Protein binding
    (GO:0005515)
  • Protein n-linked glycosylation
    (GO:0006487)
  • Protein n-linked glycosylation via asparagine
    (GO:0018279)

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: 223.7291
    Cell Significance Index: -34.8000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 127.6201
    Cell Significance Index: -32.3700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 106.6883
    Cell Significance Index: -43.9500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 87.9856
    Cell Significance Index: -41.5400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 86.6200
    Cell Significance Index: -35.1900
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 77.1795
    Cell Significance Index: -39.7000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 61.9503
    Cell Significance Index: -41.5700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.0047
    Cell Significance Index: -35.3300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 31.4367
    Cell Significance Index: -38.7600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.6882
    Cell Significance Index: -33.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.0531
    Cell Significance Index: -39.6700
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 8.7223
    Cell Significance Index: -26.7900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.3054
    Cell Significance Index: -13.8000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.5347
    Cell Significance Index: 118.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0393
    Cell Significance Index: 14.1800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9894
    Cell Significance Index: 26.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9680
    Cell Significance Index: 132.9400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.9669
    Cell Significance Index: 66.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9404
    Cell Significance Index: 25.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8752
    Cell Significance Index: 175.5600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.8570
    Cell Significance Index: 9.1100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8280
    Cell Significance Index: 452.2000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.8037
    Cell Significance Index: 41.7500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.7440
    Cell Significance Index: 127.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7292
    Cell Significance Index: 131.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6959
    Cell Significance Index: 113.1800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6743
    Cell Significance Index: 133.8100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6100
    Cell Significance Index: 45.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5989
    Cell Significance Index: 73.6400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5722
    Cell Significance Index: 13.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5684
    Cell Significance Index: 251.3100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5677
    Cell Significance Index: 40.1500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.5394
    Cell Significance Index: 61.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5048
    Cell Significance Index: 23.7300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4793
    Cell Significance Index: 16.6600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4554
    Cell Significance Index: 163.3300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4261
    Cell Significance Index: 54.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3675
    Cell Significance Index: 47.4800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3454
    Cell Significance Index: 34.1700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3122
    Cell Significance Index: 59.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3059
    Cell Significance Index: 17.1700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3037
    Cell Significance Index: 210.0400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2558
    Cell Significance Index: 16.5100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1118
    Cell Significance Index: 13.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0652
    Cell Significance Index: 4.1100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0646
    Cell Significance Index: 3.9700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0593
    Cell Significance Index: 44.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0364
    Cell Significance Index: 2.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0308
    Cell Significance Index: 27.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0203
    Cell Significance Index: 38.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0151
    Cell Significance Index: 11.1000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0032
    Cell Significance Index: 5.8300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0021
    Cell Significance Index: -3.2300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0091
    Cell Significance Index: -12.4400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0111
    Cell Significance Index: -8.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0116
    Cell Significance Index: -7.2300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0152
    Cell Significance Index: -9.6500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0268
    Cell Significance Index: -0.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0284
    Cell Significance Index: -12.8700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0338
    Cell Significance Index: -1.5300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0378
    Cell Significance Index: -21.3000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0412
    Cell Significance Index: -0.6900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0416
    Cell Significance Index: -4.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0685
    Cell Significance Index: -14.4200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0915
    Cell Significance Index: -2.9300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0923
    Cell Significance Index: -13.4100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0993
    Cell Significance Index: -2.9200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1074
    Cell Significance Index: -2.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1205
    Cell Significance Index: -34.6700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1237
    Cell Significance Index: -2.1200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1382
    Cell Significance Index: -7.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1614
    Cell Significance Index: -4.5100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1635
    Cell Significance Index: -7.2300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1681
    Cell Significance Index: -3.5800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1831
    Cell Significance Index: -1.9000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1875
    Cell Significance Index: -7.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2156
    Cell Significance Index: -14.5000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2289
    Cell Significance Index: -26.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2310
    Cell Significance Index: -26.9200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.2389
    Cell Significance Index: -2.2000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2413
    Cell Significance Index: -12.6700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2573
    Cell Significance Index: -6.9000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3578
    Cell Significance Index: -9.1400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3611
    Cell Significance Index: -37.6000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3792
    Cell Significance Index: -4.5200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4384
    Cell Significance Index: -34.7300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5102
    Cell Significance Index: -13.1200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.5694
    Cell Significance Index: -3.4400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.5726
    Cell Significance Index: -4.8100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5789
    Cell Significance Index: -17.0500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5819
    Cell Significance Index: -16.6800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6072
    Cell Significance Index: -11.8500
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.6281
    Cell Significance Index: -13.1000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.6654
    Cell Significance Index: -9.9700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6726
    Cell Significance Index: -5.3700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6867
    Cell Significance Index: -42.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.6949
    Cell Significance Index: -17.3700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.7071
    Cell Significance Index: -35.7400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.7344
    Cell Significance Index: -19.6500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7436
    Cell Significance Index: -16.1100

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:** ALG5 is a member of the oligosaccharyltransferase (OST) complex, which is responsible for the post-translational modification of proteins through N-linked glycosylation. ALG5 is specifically involved in the transfer of glucose molecules to the DOL substrate, forming a glucose-DOL intermediate. This intermediate is then further modified by other OST enzymes to produce mature N-glycans. ALG5 is predominantly expressed in cells that require high levels of glycosylation, such as plasma cells, epithelial cells, and trophoblast cells. **Pathways and Functions:** ALG5 plays a central role in the asparagine-linked glycosylation pathway, which is crucial for protein modification, stability, and function. The pathway involves the following steps: 1. **Dolichol lipid synthesis**: Dolichols are synthesized through a series of reactions involving the transfer of glucose molecules from UDP-glucose to the lipid molecule. 2. **Lipid-linked oligosaccharide (DOL) synthesis**: The DOL is formed by the transfer of glucose molecules to the dolichol molecule. 3. **N-glycan assembly**: The DOL is further modified by other OST enzymes to produce mature N-glycans. 4. **Protein glycosylation**: The mature N-glycan is transferred to a nascent protein through the action of the OST complex. **Clinical Significance:** Dysregulation of ALG5 has been implicated in various diseases, including: 1. **Cancer**: ALG5 has been shown to be overexpressed in several types of cancer, including breast, lung, and colon cancer. This overexpression is thought to contribute to cancer progression and metastasis. 2. **Autoimmune disorders**: ALG5 has been implicated in autoimmune diseases such as rheumatoid arthritis and lupus, where dysregulation of N-glycosylation is thought to contribute to disease pathogenesis. 3. **Metabolic disorders**: ALG5 has been linked to metabolic disorders such as type 2 diabetes and obesity, where dysregulation of N-glycosylation is thought to contribute to insulin resistance and metabolic dysfunction. In conclusion, ALG5 plays a crucial role in the biosynthesis of N-linked glycan precursors and is involved in various diseases. Further research is needed to fully understand the mechanisms by which ALG5 contributes to disease pathogenesis and to develop therapeutic strategies to modulate ALG5 activity.

Genular Protein ID: 3270545051

Symbol: ALG5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9Y673 B4DR37 Q5TBA6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 2 CDD 1 CTD 1 ChEBI 4 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 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 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 4 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 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: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 35896117

Title: Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

PubMed ID: 35896117

DOI: 10.1016/j.ajhg.2022.06.013

Sequence Information:

  • Length: 324
  • Mass: 36946
  • Checksum: 44E1826BAB5B36CB
  • Sequence:
    • MAPLLLQLAV LGAALAAAAL VLISIVAFTT ATKMPALHRH EEEKFFLNAK GQKETLPSIW 
DSPTKQLSVV VPSYNEEKRL PVMMDEALSY LEKRQKRDPA FTYEVIVVDD GSKDQTSKVA 
FKYCQKYGSD KVRVITLVKN RGKGGAIRMG IFSSRGEKIL MADADGATKF PDVEKLEKGL 
NDLQPWPNQM AIACGSRAHL EKESIAQRSY FRTLLMYGFH FLVWFLCVKG IRDTQCGFKL 
FTREAASRTF SSLHVERWAF DVELLYIAQF FKIPIAEIAV NWTEIEGSKL VPFWSWLQMG 
KDLLFIRLRY LTGAWRLEQT RKMN

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.