Human Gene LARGE1 (ENST00000675416.1) Description and Page Index
  Description: LARGE xylosyl- and glucuronyltransferase 1 (from HGNC LARGE1)
RefSeq Summary (NM_001362951): 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: ENST00000675416.1
Gencode Gene: ENSG00000133424.22
Transcript (Including UTRs)
   Position: hg38 chr22:33,273,077-33,880,672 Size: 607,596 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr22:33,274,427-33,761,476 Size: 487,050 Coding Exon Count: 14 

Page IndexSequence and LinksMalaCardsRNA-Seq ExpressionMicroarray ExpressionRNA Structure
Other SpeciesmRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:33,273,077-33,880,672)mRNA (may differ from genome)Protein (756 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSEnsembl
ExonPrimerGeneCardsLynxMGIPubMedUniProtKB
Wikipedia

-  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 -59.70203-0.294 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.

-  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    

-  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.
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.
JD471950 - Sequence 452974 from Patent EP1572962.
JD380542 - Sequence 361566 from Patent EP1572962.
JD190064 - Sequence 171088 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AJ007583, uc288ouc.1, X5DR28
UCSC ID: ENST00000675416.1
RefSeq Accession: NM_001362951
CCDS: CCDS13912.1

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