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LARGE1 LARGE xylosyl- and glucuronyltransferase 1 [ Homo sapiens (human) ]

Gene ID: 9215, updated on 3-Oct-2020

Summary

Official Symbol
LARGE1provided by HGNC
Official Full Name
LARGE xylosyl- and glucuronyltransferase 1provided by HGNC
Primary source
HGNC:HGNC:6511
See related
Ensembl:ENSG00000133424 MIM:603590
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LARGE; MDC1D; MDDGA6; MDDGB6
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. 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]
Expression
Ubiquitous expression in brain (RPKM 9.1), heart (RPKM 8.9) and 23 other tissues See more
Orthologs

Genomic context

See LARGE1 in Genome Data Viewer
Location:
22q12.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (33162237..33922824, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (33668509..34316464, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene synapsin III Neighboring gene Sharpr-MPRA regulatory region 12398 Neighboring gene long intergenic non-protein coding RNA 1640 Neighboring gene microRNA 4764 Neighboring gene uncharacterized LOC105373007 Neighboring gene LARGE antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 50B Neighboring gene LARGE1 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 1643 Neighboring gene uncharacterized LL22NC03-13G6.2 Neighboring gene uncharacterized LOC105373012

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
MedGen: C3150414 OMIM: 613154 GeneReviews: Not available
Compare labs
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 Compare labs
Genetics of coronary artery calcification among African Americans, a meta-analysis.
GeneReviews: Not available
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
GeneReviews: Not available
Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
GeneReviews: Not available
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0609

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-xylosyltransferase activity TAS
Traceable Author Statement
more info
 
acetylglucosaminyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
glucuronosyltransferase activity TAS
Traceable Author Statement
more info
 
manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferase activity, transferring glycosyl groups TAS
Traceable Author Statement
more info
PubMed 
xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xylosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
N-acetylglucosamine metabolic process TAS
Traceable Author Statement
more info
PubMed 
glycoprotein biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
glycosphingolipid biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
muscle cell cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
protein O-linked glycosylation TAS
Traceable Author Statement
more info
 
protein O-linked mannosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein O-linked mannosylation IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation TAS
Traceable Author Statement
more info
PubMed 
skeletal muscle organ development ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle tissue regeneration ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of Golgi membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
LARGE xylosyl- and glucuronyltransferase 1
Names
acetylglucosaminyltransferase-like 1A
acetylglucosaminyltransferase-like protein
glycosyltransferase-like protein LARGE1
NP_001349878.1
NP_001349880.1
NP_001349882.1
NP_001365553.1
NP_001365554.1
NP_001365555.1
NP_001365556.1
NP_001365557.1
NP_001365558.1
NP_001365559.1
NP_001365560.1
NP_004728.1
NP_598397.1
XP_011528815.1
XP_024308070.1
XP_024308071.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009929.2 RefSeqGene

    Range
    5001..652903
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001362949.2NP_001349878.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z73429, Z82173
    Consensus CDS
    CCDS13912.1
    Related
    ENSP00000415546.2, ENST00000413114.6
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  2. NM_001362951.2NP_001349880.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
    Related
    ENSP00000502238.1, ENST00000676370.1
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  3. NM_001362953.2NP_001349882.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
    Related
    ENSP00000502152.1, ENST00000676070.1
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  4. NM_001378624.1NP_001365553.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z73429, Z82173
    Related
    ENSP00000501854.1, ENST00000676132.1
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  5. NM_001378625.1NP_001365554.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z82173
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  6. NM_001378626.1NP_001365555.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z82173
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  7. NM_001378627.1NP_001365556.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
    Related
    ENSP00000501941.1, ENST00000674789.1
  8. NM_001378628.1NP_001365557.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
  9. NM_001378629.1NP_001365558.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
    Related
    ENSP00000385223.1, ENST00000402320.5
  10. NM_001378630.1NP_001365559.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008640, AL008715, Z69943, Z82173
    Related
    ENSP00000502772.1, ENST00000674780.1
  11. NM_001378631.1NP_001365560.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008640, AL008715, Z69943, Z82173
  12. NM_004737.7NP_004728.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_004728.1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z73429, Z82173
    Consensus CDS
    CCDS13912.1
    UniProtKB/Swiss-Prot
    O95461
    UniProtKB/TrEMBL
    X5DR28
    Related
    ENSP00000347088.2, ENST00000354992.6
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  13. NM_133642.5NP_598397.1  LARGE xylosyl- and glucuronyltransferase 1 isoform 1

    See identical proteins and their annotated locations for NP_598397.1

    Status: REVIEWED

    Source sequence(s)
    AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
    Consensus CDS
    CCDS13912.1
    UniProtKB/Swiss-Prot
    O95461
    UniProtKB/TrEMBL
    X5DR28
    Related
    ENSP00000380549.2, ENST00000397394.6
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473742
    Glyco_transf_49; Glycosyl-transferase for dystroglycan

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    33162237..33922824 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452302.1XP_024308070.1  LARGE xylosyl- and glucuronyltransferase 1 isoform X2

    Related
    ENSP00000476364.2, ENST00000610186.6
    Conserved Domains (2) summary
    cd06431
    Location:138417
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:473625
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  2. XM_011530513.2XP_011528815.1  LARGE xylosyl- and glucuronyltransferase 1 isoform X4

    Conserved Domains (2) summary
    pfam13896
    Location:107376
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
    cl11394
    Location:1151
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
  3. XM_024452303.1XP_024308071.1  LARGE xylosyl- and glucuronyltransferase 1 isoform X5

    Related
    ENSP00000396277.3, ENST00000430220.7
    Conserved Domains (1) summary
    cd06431
    Location:138379
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

RNA

  1. XR_002958722.1 RNA Sequence

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