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

    Gene ID: 9215, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:6511
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LARGE1 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (33066663..33922824, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (33627091..34380164, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (33668495..34318812, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene synapsin III Neighboring gene uncharacterized LOC124905104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:33216313-33216812 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:33271816-33272028 Neighboring gene Sharpr-MPRA regulatory region 12398 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:33283107-33283317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:33347343-33347844 Neighboring gene TIMP metallopeptidase inhibitor 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:33382939-33383840 Neighboring gene Sharpr-MPRA regulatory region 592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:33448207-33448890 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:33450113-33450805 Neighboring gene ETFRF1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:33506225-33507424 Neighboring gene uncharacterized LOC124905107 Neighboring gene uncharacterized LOC124905105 Neighboring gene long intergenic non-protein coding RNA 1640 Neighboring gene uncharacterized LOC124905106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18881 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:33833834-33835033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18884 Neighboring gene MPRA-validated peak4484 silencer Neighboring gene microRNA 4764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18885 Neighboring gene Sharpr-MPRA regulatory region 960 Neighboring gene uncharacterized LOC105373007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13645 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:34018247-34018422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:34118270-34118798 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:34134097-34134616 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:34134617-34135136 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:34175765-34176266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:34178675-34179175 Neighboring gene LARGE antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 50B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13646 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:34231147-34231704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18886 Neighboring gene Sharpr-MPRA regulatory region 672 Neighboring gene Sharpr-MPRA regulatory region 8125 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:34245227-34245862 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:34249333-34249834 and GRCh37_chr22:34249835-34250334 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:34265535-34266035 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:34263445-34263944 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:34265034-34265534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:34271643-34272142 Neighboring gene Sharpr-MPRA regulatory region 329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:34294924-34295536 Neighboring gene Sharpr-MPRA regulatory region 1840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13648 Neighboring gene LARGE1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18888 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:34411551-34412114 Neighboring gene long intergenic non-protein coding RNA 1643 Neighboring gene uncharacterized LL22NC03-13G6.2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:34556235-34556992 Neighboring gene NANOG hESC enhancer GRCh37_chr22:34590594-34591168 Neighboring gene uncharacterized LOC124905108

    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

    EBI GWAS Catalog

    Description
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0609

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-xylosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables acetylglucosaminyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables glucuronosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glucuronosyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables glycosyltransferase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables hexosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables manganese ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables xylosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables xylosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in acetylcholine receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in astrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in basement membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in connective tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of adult lifespan IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycoprotein biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glycosphingolipid biosynthetic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in localization of cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in long-term synaptic potentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in muscle cell cellular homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling posture IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in plasma membrane organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic hindlimb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-translational protein modification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in principal sensory nucleus of trigeminal nerve development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked glycosylation TAS
    Traceable Author Statement
    more info
     
    involved_in protein O-linked mannosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein O-linked mannosylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein glycosylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein targeting to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in reactive gliosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to light stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retina vasculature development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle fiber differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal muscle organ development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle tissue regeneration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in striated muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic assembly at neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in walking behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in water transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    xylosyl- and glucuronyltransferase LARGE1
    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
    XP_047297555.1
    XP_047297556.1
    XP_047297557.1
    XP_047297558.1
    XP_047297559.1
    XP_047297560.1
    XP_047297561.1
    XP_047297562.1
    XP_054182108.1
    XP_054182109.1
    XP_054182110.1
    XP_054182111.1
    XP_054182112.1
    XP_054182113.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4953..652920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_856

    mRNA and Protein(s)

    1. NM_001362949.2NP_001349878.1  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69715, Z69943, Z70288, Z82173
      Consensus CDS
      CCDS13912.1
      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      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  xylosyl- and glucuronyltransferase LARGE1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS93154.1
      UniProtKB/TrEMBL
      A0A6Q8PFT0, B7Z2I9
      Related
      ENSP00000501941.1, ENST00000674789.1
    8. NM_001378628.1NP_001365557.1  xylosyl- and glucuronyltransferase LARGE1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS93154.1
      UniProtKB/TrEMBL
      A0A6Q8PFT0, B7Z2I9
    9. NM_001378629.1NP_001365558.1  xylosyl- and glucuronyltransferase LARGE1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z73429, Z82173
      Consensus CDS
      CCDS93153.1
      UniProtKB/TrEMBL
      A0A6Q8PG57
      Related
      ENSP00000385223.1, ENST00000402320.6
      Conserved Domains (2) summary
      cd06431
      Location:138377
      GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
      pfam13896
      Location:421691
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
    10. NM_001378630.1NP_001365559.1  xylosyl- and glucuronyltransferase LARGE1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008640, AL008715, Z69943, Z82173
      Consensus CDS
      CCDS93152.1
      UniProtKB/TrEMBL
      A0A6Q8PHK1, B7Z7C3
      Related
      ENSP00000502772.1, ENST00000674780.1
      Conserved Domains (2) summary
      pfam13896
      Location:272541
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:5216
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    11. NM_001378631.1NP_001365560.1  xylosyl- and glucuronyltransferase LARGE1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL008630, AL008640, AL008715, Z69943, Z82173
      UniProtKB/TrEMBL
      B7Z7C3
      Conserved Domains (2) summary
      pfam13896
      Location:220440
      Glyco_transf_49; Glycosyl-transferase for dystroglycan
      cl11394
      Location:5176
      Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
    12. NM_004737.7NP_004728.1  xylosyl- and glucuronyltransferase LARGE1 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
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      Related
      ENSP00000347088.2, ENST00000354992.7
      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  xylosyl- and glucuronyltransferase LARGE1 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
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
      Related
      ENSP00000380549.2, ENST00000397394.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      33066663..33922824 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452302.2XP_024308070.1  xylosyl- and glucuronyltransferase LARGE1 isoform X2

      UniProtKB/TrEMBL
      V9GY39, V9GYK8
      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_047441606.1XP_047297562.1  xylosyl- and glucuronyltransferase LARGE1 isoform X5

    3. XM_047441600.1XP_047297556.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    4. XM_047441602.1XP_047297558.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    5. XM_047441599.1XP_047297555.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    6. XM_047441601.1XP_047297557.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    7. XM_047441603.1XP_047297559.1  xylosyl- and glucuronyltransferase LARGE1 isoform X3

      UniProtKB/TrEMBL
      B7Z7C3
    8. XM_011530513.3XP_011528815.1  xylosyl- and glucuronyltransferase LARGE1 isoform X6

      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
    9. XM_047441604.1XP_047297560.1  xylosyl- and glucuronyltransferase LARGE1 isoform X4

      UniProtKB/TrEMBL
      X5DRG1
      Related
      ENSP00000501800.1, ENST00000675382.1
    10. XM_047441605.1XP_047297561.1  xylosyl- and glucuronyltransferase LARGE1 isoform X4

      UniProtKB/TrEMBL
      X5DRG1
    11. XM_024452303.2XP_024308071.1  xylosyl- and glucuronyltransferase LARGE1 isoform X7

      UniProtKB/TrEMBL
      B0QYZ9, B0QZ00, B0QZ01, B0QZ02
      Related
      ENSP00000406000.2, ENST00000423375.2
      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_007067993.1 RNA Sequence

    2. XR_002958722.2 RNA Sequence

    3. XR_007067994.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      33627091..34380164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326135.1XP_054182110.1  xylosyl- and glucuronyltransferase LARGE1 isoform X2

      UniProtKB/TrEMBL
      V9GY39, V9GYK8
    2. XM_054326133.1XP_054182108.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    3. XM_054326134.1XP_054182109.1  xylosyl- and glucuronyltransferase LARGE1 isoform X1

      UniProtKB/Swiss-Prot
      B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
      UniProtKB/TrEMBL
      A0A6Q8PG57, X5DR28
    4. XM_054326136.1XP_054182111.1  xylosyl- and glucuronyltransferase LARGE1 isoform X3

      UniProtKB/TrEMBL
      B7Z7C3
    5. XM_054326137.1XP_054182112.1  xylosyl- and glucuronyltransferase LARGE1 isoform X6

    6. XM_054326138.1XP_054182113.1  xylosyl- and glucuronyltransferase LARGE1 isoform X7

      UniProtKB/TrEMBL
      B0QYZ9, B0QZ00, B0QZ01, B0QZ02

    RNA

    1. XR_008485436.1 RNA Sequence

    2. XR_008485435.1 RNA Sequence