Reviewed,
UniProtKB/Swiss-Prot Q92685 (ALG3_HUMAN)
Last modified
June 16, 2009.
Version 77.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase EC=2.4.1.130 Alternative name(s): Dol-P-Man-dependent alpha(1-3)-mannosyltransferase Dolichyl-phosphate-mannose--glycolipid alpha-mannosyltransferase Asparagine-linked glycosylation protein 3 Not56-like protein | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 438 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Adds the first Dol-P-Man derived mannose in an alpha-1,3 linkage to Man5GlcNAc2-PP-Dol. |
| Catalytic activity | Transfers an alpha-D-mannosyl residue from dolichyl-phosphate D-mannose into membrane lipid-linked oligosaccharide. |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Multi-pass membrane protein Probable. |
| Involvement in disease | Defects in ALG3 are the cause of congenital disorder of glycosylation type 1D (CDG1D) [MIM:601110]; also known as carbohydrate-deficient glycoprotein syndrome type IV (CDGS4). CDGs are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. Ref.3 Ref.5 |
| Sequence similarities | Belongs to the glycosyltransferase 58 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Disease | Congenital disorder of glycosylation Disease mutation |
| Domain | Transmembrane |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | protein amino acid glycosylation Ref.3 Non-traceable author statement. Source: UniProtKB |
| Cellular component | endoplasmic reticulum membrane Ref.3 Inferred from direct assay. Source: UniProtKB integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | alpha-1,3-mannosyltransferase activity Ref.3 Inferred from direct assay. Source: UniProtKB dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activityInferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 438 | 438 | Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase | PRO_0000080566 | |||||
Regions | |||||||||
| Transmembrane | 41 – 61 | 21 | Potential | ||||||
| Transmembrane | 95 – 115 | 21 | Potential | ||||||
| Transmembrane | 123 – 143 | 21 | Potential | ||||||
| Transmembrane | 149 – 169 | 21 | Potential | ||||||
| Transmembrane | 172 – 192 | 21 | Potential | ||||||
| Transmembrane | 203 – 223 | 21 | Potential | ||||||
| Transmembrane | 231 – 251 | 21 | Potential | ||||||
| Transmembrane | 289 – 309 | 21 | Potential | ||||||
| Transmembrane | 332 – 352 | 21 | Potential | ||||||
| Transmembrane | 356 – 376 | 21 | Potential | ||||||
| Transmembrane | 407 – 427 | 21 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 13 | 1 | Phosphoserine Ref.4 | ||||||
Natural variations | |||||||||
| Natural variant | 107 | 1 | I → V: dbSNP rs2233463. | VAR_037805 | |||||
| Natural variant | 118 | 1 | G → D in CDG1D. dbSNP rs28940588. Ref.3 | VAR_010306 | |||||
| Natural variant | 171 | 1 | R → Q in CDG1D. Ref.5 | VAR_037806 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Sequence of the human homologue of the Drosophila melanogaster Not56 protein and its expression in various tissues." Kurzik-Dumke U., Kaymer M. Submitted (OCT-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain and Placenta. |
| [3] | "Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase." Koerner C., Knauer R., Stephani U., Marquardt T., Lehle L., von Figura K. EMBO J. 18:6816-6822(1999) [PubMed: 10581255] [Abstract] Cited for: CHARACTERIZATION, VARIANT CDG1D ASP-118. |
| [4] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-13, MASS SPECTROMETRY. |
| [5] | "Congenital disorder of glycosylation Id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia." Sun L., Eklund E.A., Chung W.K., Wang C., Cohen J., Freeze H.H. J. Clin. Endocrinol. Metab. 90:4371-4375(2005) [PubMed: 15840742] [Abstract] Cited for: VARIANT CDG1D GLN-171. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| Y09022 mRNA. Translation: CAA70220.1. BC002839 mRNA. Translation: AAH02839.1. BC004313 mRNA. Translation: AAH04313.1. | |
| IPI | IPI00178700. |
| RefSeq | NP_005778.1. |
| UniGene | Hs.478481 |
3D structure databases | |
| ModBase | Search... |
Protein family/group databases | |
| CAZy | GT58. Glycosyltransferase Family 58. |
PTM databases | |
| PhosphoSite | Q92685. |
Proteomic databases | |
| PRIDE | Q92685. |
Genome annotation databases | |
| Ensembl | ENSG00000214160. Homo sapiens. [Contig view] |
| GeneID | 10195. |
| KEGG | hsa:10195. |
Organism-specific databases | |
| GeneCards | GC03M185442. |
| H-InvDB | HIX0003915. |
| HGNC | HGNC:23056. ALG3. |
| MIM | 601110. phenotype. 608750. gene. |
| Orphanet | 137. CDG syndrome. 79321. CDG syndrome, type Id. |
| PharmGKB | PA134897460. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q92685. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.130. 247. |
Gene expression databases | |
| Bgee | Q92685. |
| CleanEx | HS_ALG3. |
Family and domain databases | |
| InterPro | IPR007873. Glycosyltransferase_ALG3. [Graphical view] |
| PANTHER | PTHR12646. ALG3. 1 hit. |
| Pfam | PF05208. ALG3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 38584. |
| SOURCE | Search... |
Entry information
| Entry name | ALG3_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q92685 Secondary accession number(s): Q9BT71 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


