Reviewed,
UniProtKB/Swiss-Prot Q8N3Y3 (LARG2_HUMAN)
Last modified
June 16, 2009.
Version 55.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
Customize display | text xml rdf/xml gff fasta |
Names and origin
| Protein names | Recommended name: Glycosyltransferase-like protein LARGE2 EC=2.4.-.- Alternative name(s): Glycosyltransferase-like 1B | ||||||
| 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 | 721 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. Has a higher activity toward alpha-dystroglycan than LARGE. Ref.6 Ref.8 |
| Subcellular location | Golgi apparatus membrane; Single-pass type II membrane protein By similarity. |
| Tissue specificity | Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain. Ref.6 Ref.7 |
| Sequence similarities | Belongs to the glycosyltransferase 8 family. |
| Sequence caution | The sequence AAG23791.1 differs from that shown. Reason: Frameshift at positions 496, 510 and 674. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal-anchor Transmembrane |
| Molecular function | Glycosyltransferase Transferase |
| PTM | Glycoprotein |
| Gene Ontology (GO) | |
| Biological process | muscle maintenance Inferred from sequence or structural similarity. Source: UniProtKB |
| Cellular component | Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N3Y3-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8N3Y3-2) The sequence of this isoform differs from the canonical sequence as follows: 1-288: Missing. 289-293: TSLAD → MGVSA 536-562: ASIEQLGLGSRRKAALVVPAFETLRYR → EARAGFNSSSTCGCAHPSHQARWPMVV 563-721: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 721 | 721 | Glycosyltransferase-like protein LARGE2 | PRO_0000226811 | |||||
Regions | |||||||||
| Topological domain | 1 – 8 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 9 – 29 | 21 | Signal-anchor for type II membrane protein Potential | ||||||
| Topological domain | 30 – 721 | 692 | Lumenal Potential | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 80 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 107 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 231 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 288 | 288 | Missing in isoform 2. | VSP_017483 | |||||
| Alternative sequence | 289 – 293 | 5 | TSLAD → MGVSA in isoform 2. | VSP_017484 | |||||
| Alternative sequence | 536 – 562 | 27 | ASIEQ…TLRYR → EARAGFNSSSTCGCAHPSHQ ARWPMVV in isoform 2. | VSP_017485 | |||||
| Alternative sequence | 563 – 721 | 159 | Missing in isoform 2. | VSP_017486 | |||||
| Natural variant | 37 | 1 | E → K: dbSNP rs17853729. Ref.4 | VAR_031854 | |||||
| Natural variant | 546 | 1 | R → W: dbSNP rs11038713. | VAR_031855 | |||||
| Natural variant | 677 | 1 | R → C: dbSNP rs2271851. | VAR_025518 | |||||
Experimental info | |||||||||
| Sequence conflict | 166 | 1 | Q → R in BAC04675. Ref.1 | ||||||
| Sequence conflict | 398 | 1 | E → G in BAC03909. Ref.1 | ||||||
| Sequence conflict | 473 – 474 | 2 | HF → IS in AAG23791. Ref.5 | ||||||
Sequences
| ||||||||||||||||||||||||
References
| « Hide 'large scale' references | |
| [1] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney. |
| [2] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] (ISOFORM 1), VARIANT LYS-37. Tissue: Brain. |
| [5] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-721. |
| [6] | "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE." Fujimura K., Sawaki H., Sakai T., Hiruma T., Nakanishi N., Sato T., Ohkura T., Narimatsu H. Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed: 15752776] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| [7] | "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies." Grewal P.K., McLaughlan J.M., Moore C.J., Browning C.A., Hewitt J.E. Glycobiology 15:912-923(2005) [PubMed: 15958417] [Abstract] Cited for: TISSUE SPECIFICITY. |
| [8] | "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy." Brockington M., Torelli S., Prandini P., Boito C., Dolatshad N.F., Longman C., Brown S.C., Muntoni F. Hum. Mol. Genet. 14:657-665(2005) [PubMed: 15661757] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
Web resources
| GGDB GlycoGene database |
| Functional Glycomics Gateway - GTase Glycosyltransferase-like protein LARGE2 |
Cross-references
Sequence databases | |
|---|---|
| AK092526 mRNA. Translation: BAC03909.1. AK096021 mRNA. Translation: BAC04675.1. AC068385 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68021.1. BC037291 mRNA. Translation: AAH37291.1. AF258588 mRNA. Translation: AAG23791.1. Frameshift. | |
| IPI | IPI00298417. IPI00783334. |
| RefSeq | NP_689525.3. |
| UniGene | Hs.100915 Hs.86543 |
3D structure databases | |
| ModBase | Search... |
Protein family/group databases | |
| CAZy | GT49. Glycosyltransferase Family 49. GT8. Glycosyltransferase Family 8. |
Proteomic databases | |
| PRIDE | Q8N3Y3. |
Genome annotation databases | |
| Ensembl | ENSG00000165905. Homo sapiens. [Contig view] |
| GeneID | 120071. |
| KEGG | hsa:120071. |
Organism-specific databases | |
| GeneCards | GC11P045899. |
| H-InvDB | HIX0009596. |
| HGNC | HGNC:16522. GYLTL1B. |
| MIM | 609709. gene. |
| PharmGKB | PA142671704. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8N3Y3. |
| OMA | Q8N3Y3. KHYSGLY. |
Gene expression databases | |
| ArrayExpress | Q8N3Y3. |
| Bgee | Q8N3Y3. |
| CleanEx | HS_GYLTL1B. |
| GermOnline | ENSG00000165905. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR002495. Glyco_trans_8. [Graphical view] |
| Pfam | PF01501. Glyco_transf_8. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 80516. |
| SOURCE | Search... |
Entry information
| Entry name | LARG2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N3Y3 Secondary accession number(s): A6NN75 Q8WY62 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with


