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

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.
Title: The Origins and Future of Sentinel: An Early-Warning System for Pandemic Preemption and Response.
Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.
Title: Clinical significance of LARGE1 in progression of liver cancer and the underlying mechanism.
findings demonstrate that a lack of matriglycan on alpha-dystroglycan is a common feature in rhabdomyosarcoma due to the downregulation of LARGE1, and that ectopic expression of LARGE1 can restore matriglycan modifications and the ability of alpha-dystroglycan to function as an extracellular matrix receptor
Title: Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.
Large1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.
Title: Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.
A glucuronic acid beta1,4-xylose disaccharide synthesized by B4GAT1 acts as an acceptor primer that can be elongated by LARGE with the ligand-binding heteropolysaccharide.
Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.
B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan.
Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan.
results suggest absent alpha-DG expression & LARGE deregulation closely associated w/ nodal metastasis tongue cancer. Aberrant alpha-DG expression & glycosylation attributed to abnormal epigenetic modification of LARGE; hypermethylation of its promoter.
Title: Correlation of deregulated like-acetylglucosaminyl transferase and aberrant α-dystroglycan expression with human tongue cancer metastasis.
A homozygous LARGE mutation at Cys443 is identified in patients with dystroglycanopathies, whereas the mutation p.Glu509Lys in this study may confer a milder phenotype.
Title: Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.
This study suggests LARGE as the first known modifier of plasma antithrombin.
Title: Identification of antithrombin-modulating genes. Role of LARGE, a gene encoding a bifunctional glycosyltransferase, in the secretion of proteins?
results reveal that the LARGE-glycan of dystroglycan serves as a tunable extracellular matrix protein scaffold, the extension of which is required for normal skeletal muscle function
Title: LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MedGen: C4284790 OMIM: 236670 GeneReviews: Not available	Compare labs
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 MedGen: C3150414 OMIM: 613154 GeneReviews: Not available	Compare labs
Muscular dystrophy-dystroglycanopathy type B6 MedGen: C1837229 OMIM: 608840 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH118587 (e-PCR)
- UniSTS:137986

D22S984E (e-PCR)
- UniSTS:150793

A002V10 (e-PCR)
- UniSTS:63245

D22S1162 (e-PCR), detects polymorphism
- UniSTS:75047

A004Q39 (e-PCR)
- UniSTS:54828

SHGC-143268 (e-PCR)
- UniSTS:171839

Cda01d03 (e-PCR)
- UniSTS:67397

D22S38 (e-PCR)
- UniSTS:79687

G65342 (e-PCR)
- UniSTS:166475

RH104061 (e-PCR)
- UniSTS:98386

G54753 (e-PCR)
- UniSTS:117854

RH122781 (e-PCR)
- UniSTS:135015

D22S739 (e-PCR)
- UniSTS:36220

D22S1203 (e-PCR)
- UniSTS:42371

D22S605 (e-PCR)
- UniSTS:76426

RH120368 (e-PCR)
- UniSTS:132509

D22S577 (e-PCR)
- UniSTS:23456

DXS7708 (e-PCR)
- UniSTS:41897

SHGC-16516 (e-PCR)
- UniSTS:69291

D22S1172 (e-PCR), detects polymorphism
- UniSTS:64171

SHGC-144435 (e-PCR)
- UniSTS:172245

STS-T94556 (e-PCR)
- UniSTS:72665

AL021653 (e-PCR)
- UniSTS:40164

D22S579 (e-PCR)
- UniSTS:24044

WI-13920 (e-PCR)
- UniSTS:19455

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 cell development	IEA Inferred from Electronic Annotation 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

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Preferred Names: xylosyl- and glucuronyltransferase LARGE1

Names: acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1

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.

Genomic

NG_009929.2 RefSeqGene

Range

4953..652920

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_856

mRNA and Protein(s)

NM_001362949.2 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001362951.2 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001362953.2 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001378624.1 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001378625.1 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001378626.1 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001378627.1 → NP_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
NM_001378628.1 → NP_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
NM_001378629.1 → NP_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:138 → 377

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:421 → 691

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_001378630.1 → NP_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:272 → 541

Glyco_transf_49; Glycosyl-transferase for dystroglycan

cl11394
Location:5 → 216

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
NM_001378631.1 → NP_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:220 → 440

Glyco_transf_49; Glycosyl-transferase for dystroglycan

cl11394
Location:5 → 176

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
NM_004737.7 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

Glyco_transf_49; Glycosyl-transferase for dystroglycan
NM_133642.5 → NP_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:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 742

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

33066663..33922824 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

V9GY39, V9GYK8

Related

ENSP00000476364.2, ENST00000610186.6

Conserved Domains (2) summary

cd06431
Location:138 → 417

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

pfam13896
Location:473 → 625

Glyco_transf_49; Glycosyl-transferase for dystroglycan
XM_047441606.1 → XP_047297562.1 xylosyl- and glucuronyltransferase LARGE1 isoform X5
XM_047441600.1 → XP_047297556.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_047441602.1 → XP_047297558.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_047441599.1 → XP_047297555.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_047441601.1 → XP_047297557.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_047441603.1 → XP_047297559.1 xylosyl- and glucuronyltransferase LARGE1 isoform X3
XM_011530513.3 → XP_011528815.1 xylosyl- and glucuronyltransferase LARGE1 isoform X6

Conserved Domains (2) summary

pfam13896
Location:107 → 376

Glyco_transf_49; Glycosyl-transferase for dystroglycan

cl11394
Location:11 → 51

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold
XM_047441604.1 → XP_047297560.1 xylosyl- and glucuronyltransferase LARGE1 isoform X4

Related

ENSP00000501800.1, ENST00000675382.1
XM_047441605.1 → XP_047297561.1 xylosyl- and glucuronyltransferase LARGE1 isoform X4
XM_024452303.2 → XP_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:138 → 379

GT8_LARGE_C; LARGE catalytic domain has closest homology to GT8 glycosyltransferase involved in lipooligosaccharide synthesis

RNA

XR_007067993.1 RNA Sequence
XR_002958722.2 RNA Sequence
XR_007067994.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

33627091..34380164 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

V9GY39
XM_054326133.1 → XP_054182108.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_054326134.1 → XP_054182109.1 xylosyl- and glucuronyltransferase LARGE1 isoform X1

UniProtKB/Swiss-Prot

B0QXZ7, O60348, O95461, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22

UniProtKB/TrEMBL

X5DR28
XM_054326136.1 → XP_054182111.1 xylosyl- and glucuronyltransferase LARGE1 isoform X3
XM_054326137.1 → XP_054182112.1 xylosyl- and glucuronyltransferase LARGE1 isoform X6
XM_054326138.1 → XP_054182113.1 xylosyl- and glucuronyltransferase LARGE1 isoform X7