Human Gene LARGE1 (ENST00000402320.6) Description and Page Index
  Description: Homo sapiens LARGE xylosyl- and glucuronyltransferase 1 (LARGE1), transcript variant 11, mRNA. (from RefSeq NM_001378629)
RefSeq Summary (NM_001378629): 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. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018].
Gencode Transcript: ENST00000402320.6
Gencode Gene: ENSG00000133424.22
Transcript (Including UTRs)
   Position: hg38 chr22:33,273,077-33,920,414 Size: 647,338 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg38 chr22:33,274,427-33,761,476 Size: 487,050 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:33,273,077-33,920,414)mRNA (may differ from genome)Protein (704 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
Entrez GeneExonPrimerGeneCardsHPRDLynxMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: LARGE_HUMAN
DESCRIPTION: RecName: Full=Glycosyltransferase-like protein LARGE1; EC=2.4.-.-; AltName: Full=Acetylglucosaminyltransferase-like 1A;
FUNCTION: Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. May be involved in the addition of a repeated disaccharide unit.
PATHWAY: Protein modification; protein glycosylation.
SUBUNIT: Interacts with DAG1 (via the N-terminal domain of alpha- DAG1); the interaction increases binding of DAG1 to laminin (By similarity).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Ubiquitous. Highest expression in heart, brain and skeletal muscle.
DISEASE: Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with mental retardation type B6 (MDDGB6) [MIM:608840]. A congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.
DISEASE: Defects in LARGE are the cause of muscular dystrophy- dystroglycanopathy congenital with brain and eye anomalies type A6 (MDDGA6) [MIM:613154]; also called muscle-eye-brain disease LARGE- related or Walker-Warburg syndrome LARGE-related. MDDGA6 is an autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
SIMILARITY: Belongs to the glycosyltransferase 8 family.
SEQUENCE CAUTION: Sequence=BAA25535.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LARGE";
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Glycosyltransferase-like protein LARGE1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_549";

-  MalaCards Disease Associations
  MalaCards Gene Search: LARGE1
Diseases sorted by gene-association score: muscular dystrophy-dystroglycanopathy , type a, 6* (1200), muscular dystrophy-dystroglycanopathy , type b, 6* (1200), congenital muscular dystrophy with intellectual disability* (202), large1-related muscle diseases* (200), muscle eye brain disease* (190), walker-warburg syndrome* (130), congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 6* (100), congenital muscular dystrophy-dystroglycanopathy with mental retardation type b 6* (100), muscular dystrophy (12), ablepharon-macrostomia syndrome (10), blastoma (7), muscular dystrophy-dystroglycanopathy , type a, 4 (7), loiasis (7), cobblestone lissencephaly (6), muscular dystrophy, congenital (4), skeletal tuberculosis (3)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.16 RPKM in Heart - Left Ventricle
Total median expression: 199.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -243.10502-0.484 Picture PostScript Text
3' UTR -420.501350-0.311 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002495 - Glyco_trans_8

Pfam Domains:
PF01501 - Glycosyl transferase family 8

ModBase Predicted Comparative 3D Structure on O95461
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0005515 protein binding
GO:0008375 acetylglucosaminyltransferase activity
GO:0015020 glucuronosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0030145 manganese ion binding
GO:0035252 UDP-xylosyltransferase activity
GO:0042285 xylosyltransferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006044 N-acetylglucosamine metabolic process
GO:0006486 protein glycosylation
GO:0006493 protein O-linked glycosylation
GO:0006688 glycosphingolipid biosynthetic process
GO:0008152 metabolic process
GO:0009101 glycoprotein biosynthetic process
GO:0035269 protein O-linked mannosylation
GO:0043403 skeletal muscle tissue regeneration
GO:0046716 muscle cell cellular homeostasis
GO:0060538 skeletal muscle organ development

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AJ007583 - Homo sapiens mRNA for acetylglucosaminyltransferase-like protein.
LF384400 - JP 2014500723-A/191903: Polycomb-Associated Non-Coding RNAs.
MA619977 - JP 2018138019-A/191903: Polycomb-Associated Non-Coding RNAs.
AB011181 - Homo sapiens mRNA for KIAA0609 protein, partial cds.
BC117425 - Homo sapiens like-glycosyltransferase, mRNA (cDNA clone MGC:151034 IMAGE:40125976), complete cds.
BC126404 - Homo sapiens like-glycosyltransferase, mRNA (cDNA clone MGC:161682 IMAGE:8992120), complete cds.
AK301808 - Homo sapiens cDNA FLJ61443 complete cds, highly similar to Glycosyltransferase-like protein LARGE1 (EC 2.4.-.-).
CR456510 - Homo sapiens LARGE full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.LARGE).
AK294766 - Homo sapiens cDNA FLJ60503 complete cds, highly similar to Glycosyltransferase-like protein LARGE1 (EC 2.4.-.-).
AK295636 - Homo sapiens cDNA FLJ50162 complete cds, highly similar to Glycosyltransferase-like protein LARGE1 (EC 2.4.-.-).
CU013109 - Homo sapiens LARGE, mRNA (cDNA clone IMAGE:100000367), complete cds, with stop codon, in Gateway system.
HQ258512 - Synthetic construct Homo sapiens clone IMAGE:100072941 like-glycosyltransferase (LARGE), transcript variant 2 (LARGE) gene, encodes complete protein.
AB385361 - Synthetic construct DNA, clone: pF1KA0609, Homo sapiens LARGE gene for glycosyltransferase-like protein LARGE1, complete cds, without stop codon, in Flexi system.
CU013397 - Homo sapiens LARGE, mRNA (cDNA clone IMAGE:100000271), complete cds, without stop codon, in Gateway system.
KJ534877 - Homo sapiens clone LARGE_iso-A_fetal-F01 glycosyltransferase-like protein isoform A (LARGE) mRNA, partial cds, alternatively spliced.
KJ535033 - Homo sapiens clone LARGE_iso-C_fetal-F04 glycosyltransferase-like protein isoform C (LARGE) mRNA, complete cds, alternatively spliced.
KJ535073 - Homo sapiens clone LARGE_iso-B_fetal-F11 glycosyltransferase-like protein isoform B (LARGE) mRNA, complete cds, alternatively spliced.
KJ535074 - Homo sapiens clone LARGE_iso-D_adult-A16 glycosyltransferase-like protein isoform D (LARGE) mRNA, complete cds, alternatively spliced.
AK310462 - Homo sapiens cDNA, FLJ17504.
JD323229 - Sequence 304253 from Patent EP1572962.
JD131909 - Sequence 112933 from Patent EP1572962.
JD436442 - Sequence 417466 from Patent EP1572962.
JD194079 - Sequence 175103 from Patent EP1572962.
JD500413 - Sequence 481437 from Patent EP1572962.
JD516166 - Sequence 497190 from Patent EP1572962.
LF372856 - JP 2014500723-A/180359: Polycomb-Associated Non-Coding RNAs.
MA608433 - JP 2018138019-A/180359: Polycomb-Associated Non-Coding RNAs.
JD462198 - Sequence 443222 from Patent EP1572962.
JD396725 - Sequence 377749 from Patent EP1572962.
JD044504 - Sequence 25528 from Patent EP1572962.
JD068928 - Sequence 49952 from Patent EP1572962.
JD055620 - Sequence 36644 from Patent EP1572962.
JD501309 - Sequence 482333 from Patent EP1572962.
JD227243 - Sequence 208267 from Patent EP1572962.
JD066197 - Sequence 47221 from Patent EP1572962.
JD189699 - Sequence 170723 from Patent EP1572962.
LF372857 - JP 2014500723-A/180360: Polycomb-Associated Non-Coding RNAs.
MA608434 - JP 2018138019-A/180360: Polycomb-Associated Non-Coding RNAs.
LF372858 - JP 2014500723-A/180361: Polycomb-Associated Non-Coding RNAs.
MA608435 - JP 2018138019-A/180361: Polycomb-Associated Non-Coding RNAs.
LF372859 - JP 2014500723-A/180362: Polycomb-Associated Non-Coding RNAs.
MA608436 - JP 2018138019-A/180362: Polycomb-Associated Non-Coding RNAs.
LF372864 - JP 2014500723-A/180367: Polycomb-Associated Non-Coding RNAs.
MA608441 - JP 2018138019-A/180367: Polycomb-Associated Non-Coding RNAs.
LF372865 - JP 2014500723-A/180368: Polycomb-Associated Non-Coding RNAs.
MA608442 - JP 2018138019-A/180368: Polycomb-Associated Non-Coding RNAs.
LF372869 - JP 2014500723-A/180372: Polycomb-Associated Non-Coding RNAs.
MA608446 - JP 2018138019-A/180372: Polycomb-Associated Non-Coding RNAs.
LF372895 - JP 2014500723-A/180398: Polycomb-Associated Non-Coding RNAs.
MA608472 - JP 2018138019-A/180398: Polycomb-Associated Non-Coding RNAs.
LF372896 - JP 2014500723-A/180399: Polycomb-Associated Non-Coding RNAs.
MA608473 - JP 2018138019-A/180399: Polycomb-Associated Non-Coding RNAs.
LF372912 - JP 2014500723-A/180415: Polycomb-Associated Non-Coding RNAs.
MA608489 - JP 2018138019-A/180415: Polycomb-Associated Non-Coding RNAs.
LF372913 - JP 2014500723-A/180416: Polycomb-Associated Non-Coding RNAs.
MA608490 - JP 2018138019-A/180416: Polycomb-Associated Non-Coding RNAs.
LF372935 - JP 2014500723-A/180438: Polycomb-Associated Non-Coding RNAs.
MA608512 - JP 2018138019-A/180438: Polycomb-Associated Non-Coding RNAs.
JD471950 - Sequence 452974 from Patent EP1572962.
JD380542 - Sequence 361566 from Patent EP1572962.
JD190064 - Sequence 171088 from Patent EP1572962.
JD189452 - Sequence 170476 from Patent EP1572962.
JD069409 - Sequence 50433 from Patent EP1572962.
JD474828 - Sequence 455852 from Patent EP1572962.
JD075727 - Sequence 56751 from Patent EP1572962.
JD048027 - Sequence 29051 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95461 (Reactome details) participates in the following event(s):

R-HSA-5617138 B4GAT1:LARGE,GYLTL1B transfers Xyl from UDP-Xyl to GlcA-Xyl-GlcA
R-HSA-5617143 B4GAT1:LARGE,GYLTL1B transfers GlcA from UDP-GlcA to Xyl-GlcA
R-HSA-5173105 O-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B0QXZ7, ENST00000402320.1, ENST00000402320.2, ENST00000402320.3, ENST00000402320.4, ENST00000402320.5, KIAA0609, LARGE, LARGE_HUMAN, NM_001378629, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22, uc010gwp.1, uc010gwp.2, uc010gwp.3, uc010gwp.4, uc010gwp.5
UCSC ID: ENST00000402320.6
RefSeq Accession: NM_001378629
Protein: O95461 (aka LARGE_HUMAN or LAGE_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.