Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9215
Gene name Gene Name - the full gene name approved by the HGNC.	LARGE xylosyl- and glucuronyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LARGE1
Synonyms (NCBI Gene) Gene synonyms aliases	LARGE, MDC1D, MDDGA6, MDDGB6
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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.

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12627793	G>A	Conflicting-interpretations-of-pathogenicity, benign	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs56239539	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs121908675	C>A,T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs141089495	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, intron variant
rs141818070	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs144045461	C>T	Uncertain-significance, likely-pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs144216539	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs145048151	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs146552975	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, genic upstream transcript variant
rs267607209	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs267607210	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs372629986	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs398124181	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs563144239	A>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs727503994	G>A	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, coding sequence variant, non coding transcript variant
rs748508322	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, intron variant, coding sequence variant, genic downstream transcript variant
rs761071115	G>A,T	Pathogenic	Synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1569112355	->TT	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1602190224	C>A	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant

Show/Hide all(111)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS	9892679
GO:0001568	Process	Blood vessel development	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	19587235
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	25279699
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006044	Process	N-acetylglucosamine metabolic process	TAS	9892679
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IMP	32975514
GO:0006486	Process	Protein glycosylation	TAS	9892679
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0006612	Process	Protein targeting to membrane	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	TAS	9892679
GO:0006833	Process	Water transport	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007009	Process	Plasma membrane organization	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007274	Process	Neuromuscular synaptic transmission	IEA
GO:0007420	Process	Brain development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007613	Process	Memory	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	TAS	9892679
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	IEA
GO:0009101	Process	Glycoprotein biosynthetic process	TAS	9892679
GO:0009416	Process	Response to light stimulus	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010842	Process	Retina layer formation	IEA
GO:0014902	Process	Myotube differentiation	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	IDA	22223806, 25279697, 25279699
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	TAS	9892679
GO:0016758	Function	Hexosyltransferase activity	IDA	32975514
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021675	Process	Nerve development	IEA
GO:0021740	Process	Principal sensory nucleus of trigeminal nerve development	IEA
GO:0030145	Function	Manganese ion binding	IDA	25138275
GO:0030145	Function	Manganese ion binding	IEA
GO:0030225	Process	Macrophage differentiation	IEA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035129	Process	Post-embryonic hindlimb morphogenesis	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	TAS
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IDA	22223806, 25138275, 25279697, 25279699
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0036211	Process	Protein modification process	IEA
GO:0042285	Function	Xylosyltransferase activity	IBA
GO:0042285	Function	Xylosyltransferase activity	IDA	22223806, 25279697
GO:0042285	Function	Xylosyltransferase activity	IEA
GO:0042552	Process	Myelination	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	ISS
GO:0043687	Process	Post-translational protein modification	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0050808	Process	Synapse organization	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051124	Process	Synaptic assembly at neuromuscular junction	IEA
GO:0051674	Process	Localization of cell	IEA
GO:0055002	Process	Striated muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060173	Process	Limb development	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0060348	Process	Bone development	IEA
GO:0060538	Process	Skeletal muscle organ development	IEA
GO:0060538	Process	Skeletal muscle organ development	ISS
GO:0061298	Process	Retina vasculature development in camera-type eye	IEA
GO:0061448	Process	Connective tissue development	IEA
GO:0065003	Process	Protein-containing complex assembly	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0090659	Process	Walking behavior	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:0150103	Process	Reactive gliosis	IEA

MIM	HGNC	e!Ensembl
603590	6511	ENSG00000133424

Protein

UniProt ID

O95461

Protein name

Xylosyl- and glucuronyltransferase LARGE1 (EC 2.4.-.-) (Acetylglucosaminyltransferase-like 1A) (Glycosyltransferase-like protein) (LARGE xylosyl- and glucuronyltransferase 1) [Includes: Alpha-1,3-xylosyltransferase LARGE1 (EC 2.4.2.-); Beta-1,3-glucuronyl

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

PDB

7UI6 , 7UI7 , 7ZVJ , 9E1T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01501	Glyco_transf_8	140 → 387	Glycosyl transferase family 8	Family
PF13896	Glyco_transf_49	473 → 540		Domain
PF13896	Glyco_transf_49	535 → 743		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Highest expression in heart, brain and skeletal muscle. {ECO:0000269|PubMed:15752776}.

Sequence

MLGICRGRRKFLAASLSLLCIPAITWIYLFSGSFEDGKPVSLSPLESQAHSPRYTASSQR
ERESLEVRMREVEEENRALRRQLSLAQGRAPSHRRGNHSKTYSMEEGTGDSENLRAGIVA
GNSSECGQQPVVEKCETIHVAIVCAGYNASRDVVTLVKSVLFHRRNPLHFHLIADSIAEQ
ILATLFQTWMVPAVRVDFYNADELKSEVSWIPNKHYSGIYGLMKLVLTKTLPANLERVIV
LDTDITFATDIAELWAVFHKFKGQQVLGLVENQSDWYLGNLWKNHRPWPALGRGYNTGVI
LLLLDKLRKMKWEQMWRLTAERELMGMLSTSLADQDIFNAVIKQNPFLVYQLPCFWNVQL
SDHTRSEQCYRDVSDLKVIHWNSPKKLRVKNKHVEFFRNLYLTFLEYDGNLLRRELFGCP
SEADVNSENLQKQLSELDEDDLCYEFRRERFTVHRTHLYFLHYEYEPAADSTDVTLVAQL
SMDRLQMLEAICKHWEGPISLALYLSDAEAQQFLRYAQGSEVLMSRHNVGYHIVYKEGQF
YPVNLLRNVAMKHISTPYMFLSDIDFLPMYGLYEYLRKSVIQLDLANTKKAMIVPAFETL
RYRLSFPKSKAELLSMLDMGTLFTFRYHVWTKGHAPTNFAKWRTATTPYRVEWEADFEPY
VVVRRDCPEYDRRFVGFGWNKVAHIMELDVQEYEFIVLPNAYMIHMPHAPSFDITKFRSN
KQYRICLKTLKEEFQQDMSRRYGFAALKYLTAENNS

Sequence length

756

Interactions

View interactions

	KEGG		Reactome
	Mannose type O-glycan biosynthesis Metabolic pathways		Defective LARGE causes MDDGA6 and MDDGB6 O-linked glycosylation

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	rs267607209, rs267607210, rs761071115, rs1569112355	N/A
Muscular Dystrophy-Dystroglycanopathy	Muscular dystrophy-dystroglycanopathy type B6	rs121908675, rs761071115	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs1602190224	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Congenital muscular dystrophy	Congenital Muscular Dystrophy, alpha-dystroglycan related	N/A	N/A	ClinVar
Congenital Muscular Dystrophy With Intellectual Disability	congenital muscular dystrophy with intellectual disability	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Walker-Warburg Congenital Muscular Dystrophy	walker-warburg congenital muscular dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Central Nervous System Neoplasms	Associate	35115049
Diabetes Mellitus Type 2	Associate	29926116
Glioblastoma	Associate	31751860
Neoplasms Neuroepithelial	Associate	35115049
Spasms Infantile	Associate	25268096

LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)