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LARGE2 LARGE xylosyl- and glucuronyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 120071, updated on 22-Sep-2022

Summary

Official Symbol
LARGE2provided by HGNC
Official Full Name
LARGE xylosyl- and glucuronyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:16522
See related
Ensembl:ENSG00000165905 MIM:609709; AllianceGenome:HGNC:16522
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PP5656; GYLTL1B
Summary
Predicted to enable dystroglycan binding activity; glucuronosyltransferase activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in intracellular membrane-bounded organelle. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues See more
Orthologs
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Genomic context

See LARGE2 in Genome Data Viewer
Location:
11p11.2
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (45921621..45929096)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (46077548..46085010)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45943172..45950647)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Frey regulator of sperm-oocyte fusion 1 Neighboring gene peroxisomal biogenesis factor 16 Neighboring gene PHD finger protein 21A Neighboring gene Sharpr-MPRA regulatory region 8215 Neighboring gene uncharacterized LOC105376661

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
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35207

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables UDP-xylosyltransferase activity TAS
Traceable Author Statement
more info
 
enables glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables glucuronosyltransferase activity TAS
Traceable Author Statement
more info
 
enables manganese ion binding TAS
Traceable Author Statement
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
PubMed 
enables xylosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in muscle cell cellular homeostasis ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
involved_in protein O-linked mannosylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
xylosyl- and glucuronyltransferase LARGE2
Names
glycosyltransferase-like 1B
glycosyltransferase-like protein LARGE2
like-glycosyltransferase 2
ortholog of mouse glycosyltransferase-like 1B

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001300721.2NP_001287650.1  xylosyl- and glucuronyltransferase LARGE2 isoform a precursor

    See identical proteins and their annotated locations for NP_001287650.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC068385, BC037291, DB204404
    Consensus CDS
    CCDS31473.1
    UniProtKB/Swiss-Prot
    Q8N3Y3, Q8WY62
    Related
    ENSP00000385235.1, ENST00000401752.6
    Conserved Domains (2) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:431664
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  2. NM_001300722.2NP_001287651.1  xylosyl- and glucuronyltransferase LARGE2 isoform b

    See identical proteins and their annotated locations for NP_001287651.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame segment compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC068385, AK055829, BC037291
    Consensus CDS
    CCDS76399.1
    UniProtKB/Swiss-Prot
    Q8N3Y3
    UniProtKB/TrEMBL
    B3KP69, E9PIZ2
    Related
    ENSP00000431932.1, ENST00000529052.5
    Conserved Domains (3) summary
    cd06431
    Location:66345
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:86314
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:400633
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  3. NM_152312.5NP_689525.3  xylosyl- and glucuronyltransferase LARGE2 isoform a precursor

    See identical proteins and their annotated locations for NP_689525.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC068385, AK055829, AK096021, BC037291
    Consensus CDS
    CCDS31473.1
    UniProtKB/Swiss-Prot
    Q8N3Y3, Q8WY62
    UniProtKB/TrEMBL
    B3KP69
    Related
    ENSP00000432869.1, ENST00000531526.5
    Conserved Domains (2) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    pfam13896
    Location:431664
    Glyco_transf_49; Glycosyl-transferase for dystroglycan

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    45921621..45929096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519892.3XP_011518194.1  xylosyl- and glucuronyltransferase LARGE2 isoform X10

    Conserved Domains (3) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431647
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  2. XM_011519886.2XP_011518188.1  xylosyl- and glucuronyltransferase LARGE2 isoform X2

    See identical proteins and their annotated locations for XP_011518188.1

    Conserved Domains (3) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431679
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  3. XM_011519891.2XP_011518193.1  xylosyl- and glucuronyltransferase LARGE2 isoform X8

    Conserved Domains (3) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431584
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  4. XM_047426344.1XP_047282300.1  xylosyl- and glucuronyltransferase LARGE2 isoform X1

  5. XM_047426347.1XP_047282303.1  xylosyl- and glucuronyltransferase LARGE2 isoform X11

  6. XM_011519888.2XP_011518190.1  xylosyl- and glucuronyltransferase LARGE2 isoform X4

    Conserved Domains (2) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  7. XM_011519890.2XP_011518192.1  xylosyl- and glucuronyltransferase LARGE2 isoform X6

    Conserved Domains (2) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  8. XM_011519893.2XP_011518195.1  xylosyl- and glucuronyltransferase LARGE2 isoform X15

    Conserved Domains (2) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
  9. XM_047426348.1XP_047282304.1  xylosyl- and glucuronyltransferase LARGE2 isoform X12

  10. XM_011519889.2XP_011518191.1  xylosyl- and glucuronyltransferase LARGE2 isoform X5

    Conserved Domains (3) summary
    cd06431
    Location:66345
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:86314
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:400648
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  11. XM_006718140.2XP_006718203.1  xylosyl- and glucuronyltransferase LARGE2 isoform X7

    See identical proteins and their annotated locations for XP_006718203.1

    UniProtKB/TrEMBL
    E9PIZ2
    Conserved Domains (3) summary
    cd06431
    Location:66345
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:86314
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:400633
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  12. XM_047426345.1XP_047282301.1  xylosyl- and glucuronyltransferase LARGE2 isoform X3

  13. XM_047426349.1XP_047282305.1  xylosyl- and glucuronyltransferase LARGE2 isoform X13

  14. XM_047426346.1XP_047282302.1  xylosyl- and glucuronyltransferase LARGE2 isoform X9

  15. XM_006718141.5XP_006718204.1  xylosyl- and glucuronyltransferase LARGE2 isoform X14

    Conserved Domains (3) summary
    cd06431
    Location:97376
    GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis
    COG1442
    Location:98345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431552
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  16. XM_005252787.2XP_005252844.1  xylosyl- and glucuronyltransferase LARGE2 isoform X16

    Conserved Domains (1) summary
    cl11394
    Location:54136
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    46077548..46085010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)