Reviewed,
UniProtKB/Swiss-Prot Q9BT22 (ALG1_HUMAN)
Last modified
February 9, 2010.
Version 75.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Chitobiosyldiphosphodolichol beta-mannosyltransferase EC=2.4.1.142 Alternative name(s): GDP-mannose-dolichol diphosphochitobiose mannosyltransferase GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase Beta-1,4-mannosyltransferase Mannosyltransferase-1 Hmat-1 Short name=MT-1 Asparagine-linked glycosylation protein 1 homolog | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 464 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Participates in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. Involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man5 intermediate on the cytoplasmic surface of the ER. Ref.1 |
| Catalytic activity | GDP-mannose + chitobiosyldiphosphodolichol = GDP + beta-1,4-D-mannosylchitobiosyldiphosphodolichol. |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Single-pass type II membrane protein Probable. |
| Involvement in disease | Defects in ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K) [MIM:608540]. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Ref.7 Ref.8 Ref.9 |
| Sequence similarities | Belongs to the glycosyltransferase 1 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Endoplasmic reticulum Membrane |
| Coding sequence diversity | Polymorphism |
| Disease | Congenital disorder of glycosylation Disease mutation |
| Domain | Signal-anchor Transmembrane |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | lipopolysaccharide biosynthetic process Ref.1 Traceable author statement. Source: ProtInc protein amino acid glycosylation Ref.1Traceable author statement. Source: ProtInc |
| Cellular component | endoplasmic reticulum Ref.1 Traceable author statement. Source: ProtInc integral to membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | chitobiosyldiphosphodolichol beta-mannosyltransferase activity Inferred 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 – 464 | 464 | Chitobiosyldiphosphodolichol beta-mannosyltransferase | PRO_0000080249 | |||||
Regions | |||||||||
| Topological domain | 1 – 2 | 2 | Cytoplasmic Potential | ||||||
| Transmembrane | 3 – 23 | 21 | Signal-anchor for type II membrane protein Potential | ||||||
| Topological domain | 24 – 464 | 441 | Lumenal Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 242 | 1 | Phosphoserine Ref.5 | ||||||
Natural variations | |||||||||
| Natural variant | 150 | 1 | S → R in CDG1K; impairs activity. Ref.9 | VAR_023364 | |||||
| Natural variant | 258 | 1 | S → L in CDG1K; impairs activity. dbSNP rs28939378. Ref.7 Ref.8 Ref.9 | VAR_023365 | |||||
| Natural variant | 267 | 1 | S → N: dbSNP rs17849848. Ref.3 | VAR_038425 | |||||
| Natural variant | 325 | 1 | L → M: dbSNP rs17852920. Ref.3 | VAR_038426 | |||||
| Natural variant | 342 | 1 | Q → P in CDG1K; impairs activity. Ref.8 | VAR_023366 | |||||
| Natural variant | 429 | 1 | D → E No effect on activity. dbSNP rs9745522. Ref.9 | VAR_023367 | |||||
| Natural variant | 438 | 1 | R → W: dbSNP rs16835020. | VAR_049350 | |||||
| Natural variant | 455 | 1 | Q → R: dbSNP rs17856919. Ref.3 | VAR_038427 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1." Takahashi T., Honda R., Nishikawa Y. Glycobiology 10:321-327(2000) [PubMed: 10704531] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION. Tissue: Fetal brain. |
| [2] | "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. Isogai T.DNA Res. 12:117-126(2005) [PubMed: 16303743] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Teratocarcinoma. |
| [3] | "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], VARIANTS ASN-267; MET-325 AND ARG-455. Tissue: Brain. |
| [4] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-464. |
| [5] | "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-242, MASS SPECTROMETRY. |
| [6] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [7] | "Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik." Schwarz M., Thiel C., Luebbehusen J., Dorland B., de Koning T., von Figura K., Lehle L., Koerner C. Am. J. Hum. Genet. 74:472-481(2004) [PubMed: 14973778] [Abstract] Cited for: VARIANT CDG1K LEU-258. |
| [8] | "Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I." Kranz C., Denecke J., Lehle L., Sohlbach K., Jeske S., Meinhardt F., Rossi R., Gudowius S., Marquardt T. Am. J. Hum. Genet. 74:545-551(2004) [PubMed: 14973782] [Abstract] Cited for: VARIANTS CDG1K LEU-258 AND PRO-342. |
| [9] | "Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik." Grubenmann C.E., Frank C.G., Huelsmeier A.J., Schollen E., Matthijs G., Mayatepek E., Berger E.G., Aebi M., Hennet T. Hum. Mol. Genet. 13:535-542(2004) [PubMed: 14709599] [Abstract] Cited for: VARIANTS CDG1K ARG-150 AND LEU-258, VARIANT GLU-429. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB019038 mRNA. Translation: BAA90748.1. AK075373 mRNA. Translation: BAC11576.1. BC004402 mRNA. Translation: AAH04402.1. BC031095 mRNA. Translation: AAH31095.1. AY359073 mRNA. Translation: AAQ89432.1. Different initiation. |
| IPI | IPI00549761. |
| RefSeq | NP_061982.3. |
| UniGene | Hs.592086 |
3D structure databases | |
| SMR | Q9BT22. Positions 144-451. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9BT22. |
Protein family/group databases | |
| CAZy | GT33. Glycosyltransferase Family 33. |
Proteomic databases | |
| PRIDE | Q9BT22. |
Genome annotation databases | |
| Ensembl | ENST00000262374; ENSP00000262374; ENSG00000033011; Homo sapiens. [Genome view] |
| GeneID | 56052. |
| KEGG | hsa:56052. |
| UCSC | uc002cyj.1. human. |
Organism-specific databases | |
| CTD | 56052. |
| GeneCards | GC16P005061. |
| H-InvDB | HIX0009871. HIX0030848. |
| HGNC | HGNC:18294. ALG1. |
| MIM | 605907. gene. 608540. phenotype. |
| Orphanet | 79327. CDG syndrome, type Ik. |
| PharmGKB | PA134979319. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG07228. |
| HOGENOM | HBG319770. |
| HOVERGEN | Q9BT22. |
| InParanoid | Q9BT22. |
| OMA | LQNPPGL. |
| OrthoDB | EOG90KBJ0. |
| PhylomeDB | Q9BT22. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.142. 247. |
Gene expression databases | |
| ArrayExpress | Q9BT22. |
| Bgee | Q9BT22. |
| CleanEx | HS_ALG1. |
| Genevestigator | Q9BT22. |
| GermOnline | ENSG00000033011. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001296. Glyco_trans_1. [Graphical view] |
| Pfam | PF00534. Glycos_transf_1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 61475. |
| SOURCE | Search... |
Entry information
| Entry name | ALG1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9BT22 Secondary accession number(s): Q6UVZ9, Q8N5Y4, Q9P2Y2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 16 Human chromosome 16: 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


