Human Gene LARGE1 (ENST00000609799.6) Description and Page Index
  Description: LARGE xylosyl- and glucuronyltransferase 1 (from HGNC LARGE1)
RefSeq Summary (NM_001378627): 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: ENST00000609799.6
Gencode Gene: ENSG00000133424.22
Transcript (Including UTRs)
   Position: hg38 chr22:33,162,226-33,761,476 Size: 599,251 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg38 chr22:33,166,763-33,761,476 Size: 594,714 Coding Exon Count: 11 

Page IndexSequence and LinksMalaCardsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr22:33,162,226-33,761,476)mRNA (may differ from genome)Protein (506 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl

-  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
3' UTR -1245.724537-0.275 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
  ModBase Predicted Comparative 3D Structure on B0QY11
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016740 transferase activity

-  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.
JD548784 - Sequence 529808 from Patent EP1572962.
JD223291 - Sequence 204315 from Patent EP1572962.
JD450036 - Sequence 431060 from Patent EP1572962.
JD475316 - Sequence 456340 from Patent EP1572962.
JD222660 - Sequence 203684 from Patent EP1572962.
JD453659 - Sequence 434683 from Patent EP1572962.
JD481306 - Sequence 462330 from Patent EP1572962.
JD512654 - Sequence 493678 from Patent EP1572962.
JD412708 - Sequence 393732 from Patent EP1572962.
JD197756 - Sequence 178780 from Patent EP1572962.
JD212368 - Sequence 193392 from Patent EP1572962.
JD542533 - Sequence 523557 from Patent EP1572962.
JD536159 - Sequence 517183 from Patent EP1572962.
LF372862 - JP 2014500723-A/180365: Polycomb-Associated Non-Coding RNAs.
MA608439 - JP 2018138019-A/180365: 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.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QY11, B0QY11_HUMAN, CTA-282F2.2-012, CU013397, ENST00000609799.1, ENST00000609799.2, ENST00000609799.3, ENST00000609799.4, ENST00000609799.5, LARGE, uc062dor.1, uc062dor.2
UCSC ID: ENST00000609799.6
RefSeq Accession: NM_001378627
Protein: B0QY11

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