Reviewed,
UniProtKB/Swiss-Prot Q5I7T1 (AG10B_HUMAN)
Last modified
November 24, 2009.
Version 46.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Putative alpha-1,2-glucosyltransferase ALG10-B Short name=Alpha-2-glucosyltransferase ALG10-B EC=2.4.1.- Alternative name(s): Asparagine-linked glycosylation protein 10 homolog B Potassium channel regulator 1 | ||||
| Gene names |
| ||||
| 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 | 473 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Putative alpha-1,2-glucosyltransferase, which adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. Transfers glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. When coupled to KCNH2 may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by mediating glycosylation of KCNH2. Ref.1 Ref.3 |
| Pathway | |
| Subunit structure | Interacts with KCNH1 and KCNH2 By similarity. |
| Subcellular location | Cell membrane; Multi-pass membrane protein By similarity. |
| Tissue specificity | Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain. Ref.1 |
| Polymorphism | Genetic variations in ALG10B may reduce susceptibility to acquired long QT syndrome. |
| Sequence similarities | Belongs to the ALG10 glucosyltransferase family. |
| Caution | Ref.3 reports a Val-447 variant, however there is evidence that the right variant is Val-446. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Polymorphism |
| Domain | Transmembrane |
| Molecular function | Glycosyltransferase Transferase |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell plasma membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | transferase activity, transferring hexosyl groups Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 473 | 473 | Putative alpha-1,2-glucosyltransferase ALG10-B | PRO_0000215448 | |||||
Regions | |||||||||
| Topological domain | 1 – 6 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 7 – 27 | 21 | Potential | ||||||
| Topological domain | 28 – 64 | 37 | Extracellular Potential | ||||||
| Transmembrane | 65 – 85 | 21 | Potential | ||||||
| Topological domain | 86 – 97 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 98 – 118 | 21 | Potential | ||||||
| Topological domain | 119 – 126 | 8 | Extracellular Potential | ||||||
| Transmembrane | 127 – 147 | 21 | Potential | ||||||
| Topological domain | 148 – 150 | 3 | Cytoplasmic Potential | ||||||
| Transmembrane | 151 – 171 | 21 | Potential | ||||||
| Topological domain | 172 – 175 | 4 | Extracellular Potential | ||||||
| Transmembrane | 176 – 196 | 21 | Potential | ||||||
| Topological domain | 197 – 256 | 60 | Cytoplasmic Potential | ||||||
| Transmembrane | 257 – 277 | 21 | Potential | ||||||
| Topological domain | 278 – 283 | 6 | Extracellular Potential | ||||||
| Transmembrane | 284 – 304 | 21 | Potential | ||||||
| Topological domain | 305 – 317 | 13 | Cytoplasmic Potential | ||||||
| Transmembrane | 318 – 338 | 21 | Potential | ||||||
| Topological domain | 339 – 365 | 27 | Extracellular Potential | ||||||
| Transmembrane | 366 – 386 | 21 | Potential | ||||||
| Topological domain | 387 – 392 | 6 | Cytoplasmic Potential | ||||||
| Transmembrane | 393 – 413 | 21 | Potential | ||||||
| Topological domain | 414 – 436 | 23 | Extracellular Potential | ||||||
| Transmembrane | 437 – 457 | 21 | Potential | ||||||
| Topological domain | 458 – 473 | 16 | Cytoplasmic Potential | ||||||
Natural variations | |||||||||
| Natural variant | 84 | 1 | G → A: dbSNP rs6582584. | VAR_048217 | |||||
| Natural variant | 446 | 1 | I → V in some patients with drug-induced cardiac repolarization defects; exerts a greater protective effect, relative to wild-type, against drug blockage of KCNH2 potassium channel. Ref.3 | VAR_023753 | |||||
Sequences
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References
| [1] | "The IKr drug response is modulated by KCR1 in transfected cardiac and noncardiac cell lines." Kupershmidt S., Yang I.C.-H., Hayashi K., Wei J., Chanthaphaychith S., Petersen C.I., Johns D.C., George A.L. Jr., Roden D.M., Balser J.R. FASEB J. 17:2263-2265(2003) [PubMed: 14525949] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY. |
| [2] | George A.L. Jr. Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [3] | "In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia." Petersen C.I., McFarland T.R., Stepanovic S.Z., Yang P., Reiner D.J., Hayashi K., George A.L. Jr., Roden D.M., Thomas J.H., Balser J.R. Proc. Natl. Acad. Sci. U.S.A. 101:11773-11778(2004) [PubMed: 15280551] [Abstract] Cited for: VARIANT VAL-446, CHARACTERIZATION OF VARIANT VAL-446, POSSIBLE PROTECTIVE ROLE IN SUSCEPTIBILITY TO ACQUIRED LONG QT SYNDROME. |
Cross-references
Sequence databases | |
|---|---|
| AY845858 mRNA. Translation: AAW31756.1. | |
| IPI | IPI00105827. |
| RefSeq | NP_001013642.1. |
| UniGene | Hs.259305 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q5I7T1. |
Proteomic databases | |
| PRIDE | Q5I7T1. |
Genome annotation databases | |
| Ensembl | ENST00000308742; ENSP00000310120; ENSG00000175548; Homo sapiens. [Genome view] |
| GeneID | 144245. |
| KEGG | hsa:144245. |
| UCSC | uc001rln.2. human. |
Organism-specific databases | |
| CTD | 144245. |
| GeneCards | GC12P036998. |
| HGNC | HGNC:31088. ALG10B. |
| MIM | 603313. gene. |
| PharmGKB | PA134936082. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q5I7T1. |
| HOVERGEN | Q5I7T1. |
Gene expression databases | |
| ArrayExpress | Q5I7T1. |
| Bgee | Q5I7T1. |
| CleanEx | HS_ALG10B. |
| Genevestigator | Q5I7T1. |
| GermOnline | ENSG00000175548. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR016900. Alpha1_2_glucosyltferase_Alg10. IPR007006. Glycosyltransferase_ALG10. [Graphical view] |
| PANTHER | PTHR12989. DIE2_ALG10. 1 hit. |
| Pfam | PF04922. DIE2_ALG10. 1 hit. [Graphical view] |
| PIRSF | PIRSF028810. Alpha1_2_glucosyltferase_Alg10. 1 hit. |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 84873. |
| SOURCE | Search... |
Entry information
| Entry name | AG10B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q5I7T1 | ||||||||
| Entry history |
| ||||||||
| 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 12 Human chromosome 12: 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


