• Gene id: 9215

Gene Summary

• Gene Symbol: LARGE1   Gene   UCSC   Ensembl
• Aliases: LARGE, MDC1D, MDDGA6, MDDGB6
• Gene name: LARGE xylosyl- and glucuronyltransferase 1
• Alternate names: LARGE xylosyl- and glucuronyltransferase 1, acetylglucosaminyltransferase-like 1A, acetylglucosaminyltransferase-like protein, glycosyltransferase-like protein LARGE1,
• Gene location: 22q12.3 (33922823: 33162236)     Exons: 24     NC_000022.11
• Gene summary(Entrez): This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains.
• OMIM: 603590

Protein Summary

• Protein general information: O95461  
  • Name: LARGE xylosyl and glucuronyltransferase 1 (EC 2.4. . ) (Acetylglucosaminyltransferase like 1A) (Glycosyltransferase like protein) [Includes: Xylosyltransferase LARGE (EC 2.4.2. ); Beta 1,3 glucuronyltransferase LARGE (EC 2.4.1. )]
  • Length: 756  
  • Mass: 88066
  • Tissue specificity: Ubiquitous. Highest expression in heart, brain and skeletal muscle. {ECO
• Sequence:

  MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQRERESLEVRMREVEEE
  NRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVAGNSSECGQQPVVEKCETIHVAIVCAGYNAS
  RDVVTLVKSVLFHRRNPLHFHLIADSIAEQILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKL
  VLTKTLPANLERVIVLDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
  LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQLSDHTRSEQCYRDVSD
  LKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCPSEADVNSENLQKQLSELDEDDLCYEFRRER
  FTVHRTHLYFLHYEYEPAADSTDVTLVAQLSMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMS
  RHNVGYHIVYKEGQFYPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
  RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPYVVVRRDCPEYDRRFV
  GFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSNKQYRICLKTLKEEFQQDMSRRYGFAALKYL
  TAENNS

• Structural information:
  • Interpro: IPR002495  IPR029044  
  • DIP: 48922
  • STRING: ENSP00000347088
• Other Databases: GeneCards:  LARGE1  Malacards:  LARGE1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0015020	glucuronosyltransferase activity	IBA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0035269	protein O-linked mannosylation	IBA	biological process
GO:0042285	xylosyltransferase activity	IBA	molecular function
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0030145	manganese ion binding	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0042285	xylosyltransferase activity	IDA	molecular function
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0042285	xylosyltransferase activity	IDA	molecular function
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0043403	skeletal muscle tissue regeneration	ISS	biological process
GO:0060538	skeletal muscle organ development	ISS	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008152	metabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	TAS	molecular function
GO:0006044	N-acetylglucosamine metabolic process	TAS	biological process
GO:0006486	protein glycosylation	TAS	biological process
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0035252	UDP-xylosyltransferase activity	TAS	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0015020	glucuronosyltransferase activity	TAS	molecular function
GO:0046716	muscle cell cellular homeostasis	IEA	biological process
GO:0043403	skeletal muscle tissue regeneration	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0060538	skeletal muscle organ development	IEA	biological process
GO:0042285	xylosyltransferase activity	IEA	molecular function
GO:0035269	protein O-linked mannosylation	IEA	biological process
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0046716	muscle cell cellular homeostasis	ISS	biological process
GO:0009101	glycoprotein biosynthetic process	TAS	biological process
GO:0030173	integral component of Golgi membrane	TAS	cellular component
GO:0006688	glycosphingolipid biosynthetic process	TAS	biological process
GO:0016757	transferase activity, transferring glycosyl groups	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Congenital muscular dystrophy type 1D	KEGG:H01962
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Congenital muscular dystrophy type 1D	KEGG:H01962
Muscular dystrophy-dystroglycanopathy type B6	PMID:12966029
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq