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

Gene ID: 120071, updated on 1-Aug-2020

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
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
Expression
Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues See more
Orthologs

Genomic context

See LARGE2 in Genome Data Viewer
Location:
11p11.2
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (45921621..45929096)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (45943172..45950647)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 94 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

NHGRI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA 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
UDP-xylosyltransferase activity TAS
Traceable Author Statement
more info
 
glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glucuronosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
glucuronosyltransferase activity TAS
Traceable Author Statement
more info
 
manganese ion binding TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xylosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xylosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
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 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
LARGE xylosyl- and glucuronyltransferase 2
Names
glycosyltransferase-like 1B
glycosyltransferase-like protein LARGE2
like-glycosyltransferase 2
ortholog of mouse glycosyltransferase-like 1B
NP_001287650.1
NP_001287651.1
NP_689525.3
XP_005252844.1
XP_006718203.1
XP_006718204.1
XP_011518188.1
XP_011518190.1
XP_011518191.1
XP_011518192.1
XP_011518193.1
XP_011518194.1
XP_011518195.1
XP_016872662.1

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.

mRNA and Protein(s)

  1. NM_001300721.2NP_001287650.1  LARGE xylosyl- and glucuronyltransferase 2 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
    Related
    ENSP00000385235.1, ENST00000401752.6
    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:117345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431664
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  2. NM_001300722.2NP_001287651.1  LARGE xylosyl- and glucuronyltransferase 2 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  LARGE xylosyl- and glucuronyltransferase 2 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
    UniProtKB/TrEMBL
    B3KP69
    Related
    ENSP00000432869.1, ENST00000531526.5
    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:117345
    RfaJ; Lipopolysaccharide biosynthesis protein, LPS:glycosyltransferase [Cell wall/membrane/envelope biogenesis]
    pfam13896
    Location:431664
    Glyco_transf_49; Glycosyl-transferase for dystroglycan

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011519889.1XP_011518191.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X3

    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
  2. XM_006718140.1XP_006718203.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X5

    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
  3. XM_017017173.1XP_016872662.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X1

    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
  4. XM_011519886.1XP_011518188.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X1

    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
  5. XM_011519891.1XP_011518193.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X6

    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
  6. XM_011519888.1XP_011518190.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X2

    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_011519890.1XP_011518192.1  LARGE xylosyl- and glucuronyltransferase 2 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]
  8. XM_011519893.1XP_011518195.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X9

    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_011519892.2XP_011518194.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X7

    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
  10. XM_006718141.4XP_006718204.1  LARGE xylosyl- and glucuronyltransferase 2 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:431552
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
  11. XM_005252787.2XP_005252844.1  LARGE xylosyl- and glucuronyltransferase 2 isoform X10

    Conserved Domains (2) summary
    pfam13896
    Location:191439
    Glyco_transf_49; Glycosyl-transferase for dystroglycan
    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
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