LARGE2 (LARGE xylosyl- and glucuronyltransferase 2)

Gene

• Entrez ID: 120071
• Gene name: LARGE xylosyl- and glucuronyltransferase 2
• Gene symbol: LARGE2
• Synonyms (NCBI Gene): GYLTL1B, PP5656
• Chromosome: 11
• Chromosome location: 11p11.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	19587235, 28514442
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	ISS
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030145	Function	Manganese ion binding	IEA
GO:0030145	Function	Manganese ion binding	TAS	25138275
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	TAS
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IDA	25138275
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0042285	Function	Xylosyltransferase activity	IBA
GO:0042285	Function	Xylosyltransferase activity	ISS
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 609709
• HGNC: 16522
• e!Ensembl: ENSG00000165905

Protein

• UniProt ID: Q8N3Y3
• Protein name: Xylosyl- and glucuronyltransferase LARGE2 (EC 2.4.-.-) (Glycosyltransferase-like 1B) (LARGE xylosyl- and glucuronyltransferase 2) [Includes: Alpha-1,3-xylosyltransferase LARGE2 (EC 2.4.2.-); Beta-1,3-glucuronyltransferase LARGE2 (EC 2.4.1.-)]
• Protein function: Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-conta
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01501	Glyco_transf_8	101 → 346	Glycosyl transferase family 8	Family
  PF13896	Glyco_transf_49	431 → 497		Domain
  PF13896	Glyco_transf_49	482 → 701		Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain. {ECO:0000269|PubMed:15752776, ECO:0000269|PubMed:15958417}.
• Sequence:

  MLPRGRPRALGAAALLLLLLLLGFLLFGGDLGCERREPGGRAGAPGCFPGPLMPRVPPDG
  RLRRAAALDGDPGAGPGDHNRSDCGPQPPPPPKCELLHVAIVCAGHNSSRDVITLVKSML
  FYRKNPLHLHLVTDAVARNILETLFHTWMVPAVRVSFYHADQLKPQVSWIPNKHYSGLYG
  LMKLVLPSALPAELARVIVLDTDVTFASDISELWALFAHFSDTQAIGLVENQSDWYLGNL
  WKNHRPWPALGRGFNTGVILLRLDRLRQAGWEQMWRLTARRELLSLPATSLADQDIFNAV
  IKEHPGLVQRLPCVWNVQLSDHTLAERCYSEASDLKVIHWNSPKKLRVKNKHVEFFRNFY
  LTFLEYDGNLLRRELFVCPSQPPPGAEQLQQALAQLDEEDPCFEFRQQQLTVHRVHVTFL
  PHEPPPPRPHDVTLVAQLSMDRLQMLEALCRHWPGPMSLALYLTDAEAQQFLHFVEASPV
  LAARQDVAYHVVYREGPLYPVNQLRNVALAQALTPYVFLSDIDFLPAYSLYDYLRASIEQ
  LGLGSRRKAALVVPAFETLRYRFSFPHSKVELLALLDAGTLYTFRYHEWPRGHAPTDYAR
  WREAQAPYRVQWAANYEPYVVVPRDCPRYDPRFVGFGWNKVAHIVELDAQEYELLVLPEA
  FTIHLPHAPSLDISRFRSSPTYRDCLQALKDEFHQDLSRHHGAAALKYLPALQQPQSPAR
  G

• Sequence length: 721

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

O-linked glycosylation