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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9215
Gene name	LARGE xylosyl- and glucuronyltransferase 1
Gene symbol	LARGE1
Synonyms (NCBI Gene)	LARGEMDC1DMDDGA6MDDGB6
Chromosome	22
Chromosome location	22q12.3
Summary	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

111

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

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

971

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
LARGE1-Related Disorders	Likely pathogenic; Pathogenic	rs121908675	RCV005417419
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6	Pathogenic; Likely pathogenic	rs267607209, rs267607210, rs761071115, rs1569112355	RCV000006597 RCV000006599 RCV000585698 RCV000681481
Muscular dystrophy-dystroglycanopathy type B6	Likely pathogenic; Pathogenic	rs2147722687, rs2148785084, rs1359437833, rs1938637889, rs2145893296, rs898695674, rs749974211, rs2546646853, rs121908675, rs1929471370, rs2518914515, rs772985451, rs2065252717, rs1381780038, rs2080768582 View all (11 more)	RCV001377038 RCV001381780 RCV001941784 RCV001870701 RCV001993296 RCV002010439 RCV002614590 RCV002700645 RCV000006594 RCV000006595 RCV003447889 RCV003508004 RCV003507607 RCV003508323 RCV003508965 RCV003506918 RCV003616063 RCV003616218 RCV003616537 RCV003616680 RCV003616714 RCV003616817 RCV003820289 RCV003879078 RCV005091527 RCV001205825 RCV001239849
Retinitis pigmentosa	Pathogenic	rs1602190224	RCV000993852

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs80069366	RCV005905431
Congenital Muscular Dystrophy, alpha-dystroglycan related	Uncertain significance	rs759430272, rs886057456, rs140177888	RCV000263455 RCV000340657 RCV000372333
LARGE1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs150861748, rs398124184, rs777773303, rs138573955, rs1452229191, rs763782820, rs74550830, rs748964975, rs770267233, rs2519158178, rs577299762, rs771369607, rs576967464, rs144216539, rs1323217190 View all (14 more)	RCV003925066 RCV003915073 RCV003953811 RCV003900609 RCV003968684 RCV003971146 RCV003891688 RCV003955021 RCV003966271 RCV004757545 RCV003916575 RCV004757553 RCV003939978 RCV003920157 RCV003954281 RCV003948917 RCV003899735 RCV003899819 RCV003941421 RCV003937225 RCV003932653 RCV003922776 RCV003900166 RCV003962512 RCV003938349 RCV003955728 RCV003955721 RCV003938360 RCV003970849
Lung cancer	Benign; Likely benign	rs139572378, rs34642406	RCV005890898 RCV005897552
Muscular dystrophy	Conflicting classifications of pathogenicity	rs587783731, rs116164106	RCV000146261 RCV000146258
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Conflicting classifications of pathogenicity; Uncertain significance	rs150861748, rs116164106, rs376160270	RCV000764383 RCV000765632 RCV000764384
Thymoma	Likely benign	rs80069366	RCV005905432
Walker-Warburg congenital muscular dystrophy	Uncertain significance	rs759430272, rs886057456, rs140177888	RCV000353576 RCV000390754 RCV000319958

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)