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Protein

LARGE xylosyl- and glucuronyltransferase 1

Gene

LARGE1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B3GNT1/B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699).7 Publications

Cofactori

Mn2+1 PublicationNote: Binds 2 Mn2+ ions per subunit. The xylosyltransferase part binds one Mn2+ and the beta-1,3-glucuronyltransferase part binds one Mn2+.1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.2 Publications
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi242Manganese 1Curated1
Metal bindingi244Manganese 1Curated1
Metal bindingi563Manganese 2Curated1
Metal bindingi565Manganese 2Curated1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosyltransferase, Multifunctional enzyme, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000133424-MONOMER
ReactomeiR-HSA-5083627 Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105 O-linked glycosylation
UniPathwayi
UPA00378

Protein family/group databases

CAZyiGT49 Glycosyltransferase Family 49
GT8 Glycosyltransferase Family 8

Names & Taxonomyi

Protein namesi
Recommended name:
LARGE xylosyl- and glucuronyltransferase 1Imported (EC:2.4.-.-)
Alternative name(s):
Acetylglucosaminyltransferase-like 1A
Glycosyltransferase-like protein
Including the following 2 domains:
Xylosyltransferase LARGECurated (EC:2.4.2.-1 Publication)
Beta-1,3-glucuronyltransferase LARGECurated (EC:2.4.1.-3 Publications)
Gene namesi
Name:LARGE1Imported
Synonyms:KIAA0609, LARGE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000133424.20
HGNCiHGNC:6511 LARGE1
MIMi603590 gene
neXtProtiNX_O95461

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 10CytoplasmicSequence analysis10
Transmembranei11 – 31Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini32 – 756LumenalSequence analysisAdd BLAST725

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with mental retardation B6 (MDDGB6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital muscular dystrophy associated with profound mental retardation, white matter changes and structural brain abnormalities. Skeletal muscle biopsies show reduced immunolabeling of alpha-dystroglycan.
See also OMIM:608840
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019811509E → K in MDDGB6. 1 PublicationCorresponds to variant dbSNP:rs121908675EnsemblClinVar.1
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A6 (MDDGA6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
See also OMIM:613154
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065064331S → F in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607210EnsemblClinVar.1
Natural variantiVAR_075304443C → Y in MDDGA6. 1 Publication1
Natural variantiVAR_065065495W → R in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607209EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi242 – 244DTD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication3
Mutagenesisi242 – 244DTD → NTN: Glucuronyltransferase activity is present while xylosyltransferase activity is abolished. 1 Publication3
Mutagenesisi334 – 336DQD → NNN: Loss of function, but does not abolish subcellular location. 1 Publication3
Mutagenesisi563 – 565DID → NIN: Xylosyltransferase activity is present while glucuronyltransferase activity is abolished. 1 Publication3
Mutagenesisi563 – 565DID → NNN: Loss of function and abolishes subcellular location. 1 Publication3

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

DisGeNETi9215
GeneReviewsiLARGE
MalaCardsiLARGE1
MIMi608840 phenotype
613154 phenotype
OpenTargetsiENSG00000133424
Orphaneti370968 Congenital muscular dystrophy with intellectual disability
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome
PharmGKBiPA30296

Chemistry databases

ChEMBLiCHEMBL2146300

Polymorphism and mutation databases

BioMutaiLARGE

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002060601 – 756LARGE xylosyl- and glucuronyltransferase 1Add BLAST756

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi97N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi122N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi148N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi272N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO95461
PaxDbiO95461
PeptideAtlasiO95461
PRIDEiO95461
ProteomicsDBi50896
50897 [O95461-2]

PTM databases

iPTMnetiO95461
PhosphoSitePlusiO95461

Expressioni

Tissue specificityi

Ubiquitous. Highest expression in heart, brain and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000133424 Expressed in 182 organ(s), highest expression level in forebrain
CleanExiHS_LARGE
ExpressionAtlasiO95461 baseline and differential
GenevisibleiO95461 HS

Interactioni

Subunit structurei

Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin (By similarity). Interacts with B3GNT1/B4GAT1 (PubMed:19587235).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
B4GAT1O435052EBI-15792998,EBI-6138697

Protein-protein interaction databases

BioGridi114649, 11 interactors
DIPiDIP-48922N
IntActiO95461, 2 interactors
STRINGi9606.ENSP00000347088

Chemistry databases

BindingDBiO95461

Structurei

3D structure databases

ProteinModelPortaliO95461
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni138 – 413Xylosyltransferase activity1 PublicationAdd BLAST276
Regioni414 – 756Glucuronyltransferase activity1 PublicationAdd BLAST343

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili53 – 95Sequence analysisAdd BLAST43

Sequence similaritiesi

In the C-terminal section; belongs to the glycosyltransferase 49 family.Curated
In the N-terminal section; belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3765 Eukaryota
ENOG410XRNY LUCA
GeneTreeiENSGT00530000063165
HOVERGENiHBG052308
InParanoidiO95461
KOiK09668
OMAiWNIQLSD
OrthoDBiEOG091G034V
PhylomeDBiO95461
TreeFamiTF319168

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95461-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLGICRGRRK FLAASLSLLC IPAITWIYLF SGSFEDGKPV SLSPLESQAH
60 70 80 90 100
SPRYTASSQR ERESLEVRMR EVEEENRALR RQLSLAQGRA PSHRRGNHSK
110 120 130 140 150
TYSMEEGTGD SENLRAGIVA GNSSECGQQP VVEKCETIHV AIVCAGYNAS
160 170 180 190 200
RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ ILATLFQTWM VPAVRVDFYN
210 220 230 240 250
ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV LDTDITFATD
260 270 280 290 300
IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI
310 320 330 340 350
LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY
360 370 380 390 400
QLPCFWNVQL SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL
410 420 430 440 450
YLTFLEYDGN LLRRELFGCP SEADVNSENL QKQLSELDED DLCYEFRRER
460 470 480 490 500
FTVHRTHLYF LHYEYEPAAD STDVTLVAQL SMDRLQMLEA ICKHWEGPIS
510 520 530 540 550
LALYLSDAEA QQFLRYAQGS EVLMSRHNVG YHIVYKEGQF YPVNLLRNVA
560 570 580 590 600
MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL
610 620 630 640 650
RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYR
660 670 680 690 700
VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDV QEYEFIVLPN
710 720 730 740 750
AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL

TAENNS
Length:756
Mass (Da):88,066
Last modified:May 1, 1999 - v1
Checksum:iB022E118379AA17C
GO
Isoform 2 (identifier: O95461-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-429: Missing.

Note: No experimental confirmation available.
Show »
Length:704
Mass (Da):81,846
Checksum:i9CCD42064004C7FF
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QZ02B0QZ02_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
136Annotation score:
B0QYZ9B0QYZ9_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
108Annotation score:
B0QYZ8B0QYZ8_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
135Annotation score:
B0QZ00B0QZ00_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
47Annotation score:
B0QZ01B0QZ01_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1
60Annotation score:
B7ZB85B7ZB85_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-014
325Annotation score:
B0QY08B0QY08_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-010
187Annotation score:
B7ZB84B7ZB84_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-013
276Annotation score:
B0QY11B0QY11_HUMAN
LARGE xylosyl- and glucuronyltransf...
LARGE1 LARGE, CTA-282F2.2-012
183Annotation score:

Sequence cautioni

The sequence BAA25535 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01368568R → G. Corresponds to variant dbSNP:rs470035Ensembl.1
Natural variantiVAR_01368668R → P. Corresponds to variant dbSNP:rs135311Ensembl.1
Natural variantiVAR_065064331S → F in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607210EnsemblClinVar.1
Natural variantiVAR_075304443C → Y in MDDGA6. 1 Publication1
Natural variantiVAR_065065495W → R in MDDGA6. 1 PublicationCorresponds to variant dbSNP:rs267607209EnsemblClinVar.1
Natural variantiVAR_019811509E → K in MDDGB6. 1 PublicationCorresponds to variant dbSNP:rs121908675EnsemblClinVar.1
Natural variantiVAR_013687665R → H. Corresponds to variant dbSNP:rs1046166EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014536378 – 429Missing in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007583 mRNA Translation: CAA07571.1
AB011181 mRNA Translation: BAA25535.3 Different initiation.
CR456510 mRNA Translation: CAG30396.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17950.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17890.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18784.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18785.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18772.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAI18788.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAI18769.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAI18754.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAQ06856.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08281.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08801.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09323.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09434.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAQ09895.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ10763.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAQ11002.1
BC117425 mRNA Translation: AAI17426.1
BC126404 mRNA Translation: AAI26405.1
CCDSiCCDS13912.1 [O95461-1]
PIRiT00256
RefSeqiNP_004728.1, NM_004737.5 [O95461-1]
NP_598397.1, NM_133642.3 [O95461-1]
XP_005261888.1, XM_005261831.3 [O95461-1]
XP_005261889.1, XM_005261832.3 [O95461-1]
XP_011528812.1, XM_011530510.2
UniGeneiHs.474667

Genome annotation databases

EnsembliENST00000354992; ENSP00000347088; ENSG00000133424 [O95461-1]
ENST00000397394; ENSP00000380549; ENSG00000133424 [O95461-1]
ENST00000402320; ENSP00000385223; ENSG00000133424 [O95461-2]
GeneIDi9215
KEGGihsa:9215
UCSCiuc010gwp.4 human [O95461-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007583 mRNA Translation: CAA07571.1
AB011181 mRNA Translation: BAA25535.3 Different initiation.
CR456510 mRNA Translation: CAG30396.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17950.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI17890.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18784.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18785.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAI18772.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAI18788.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAI18769.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAI18754.1
Z69943
, AL008630, AL008715, AL096754, Z68287, Z69042, Z70288, Z82173 Genomic DNA Translation: CAQ06856.1
AL096754
, AL008630, AL008715, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08281.1
Z68287
, AL008630, AL008715, AL096754, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ08801.1
AL008630
, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09323.1
AL008715
, AL008630, AL096754, Z68287, Z69042, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ09434.1
Z82173
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z70288 Genomic DNA Translation: CAQ09895.1
Z69042
, AL008630, AL008715, AL096754, Z68287, Z69943, Z70288, Z82173 Genomic DNA Translation: CAQ10763.1
Z70288
, AL008630, AL008715, AL096754, Z68287, Z69042, Z69943, Z82173 Genomic DNA Translation: CAQ11002.1
BC117425 mRNA Translation: AAI17426.1
BC126404 mRNA Translation: AAI26405.1
CCDSiCCDS13912.1 [O95461-1]
PIRiT00256
RefSeqiNP_004728.1, NM_004737.5 [O95461-1]
NP_598397.1, NM_133642.3 [O95461-1]
XP_005261888.1, XM_005261831.3 [O95461-1]
XP_005261889.1, XM_005261832.3 [O95461-1]
XP_011528812.1, XM_011530510.2
UniGeneiHs.474667

3D structure databases

ProteinModelPortaliO95461
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114649, 11 interactors
DIPiDIP-48922N
IntActiO95461, 2 interactors
STRINGi9606.ENSP00000347088

Chemistry databases

BindingDBiO95461
ChEMBLiCHEMBL2146300

Protein family/group databases

CAZyiGT49 Glycosyltransferase Family 49
GT8 Glycosyltransferase Family 8

PTM databases

iPTMnetiO95461
PhosphoSitePlusiO95461

Polymorphism and mutation databases

BioMutaiLARGE

Proteomic databases

EPDiO95461
PaxDbiO95461
PeptideAtlasiO95461
PRIDEiO95461
ProteomicsDBi50896
50897 [O95461-2]

Protocols and materials databases

DNASUi9215
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354992; ENSP00000347088; ENSG00000133424 [O95461-1]
ENST00000397394; ENSP00000380549; ENSG00000133424 [O95461-1]
ENST00000402320; ENSP00000385223; ENSG00000133424 [O95461-2]
GeneIDi9215
KEGGihsa:9215
UCSCiuc010gwp.4 human [O95461-1]

Organism-specific databases

CTDi9215
DisGeNETi9215
EuPathDBiHostDB:ENSG00000133424.20
GeneCardsiLARGE1
GeneReviewsiLARGE
HGNCiHGNC:6511 LARGE1
MalaCardsiLARGE1
MIMi603590 gene
608840 phenotype
613154 phenotype
neXtProtiNX_O95461
OpenTargetsiENSG00000133424
Orphaneti370968 Congenital muscular dystrophy with intellectual disability
588 Muscle-eye-brain disease
899 Walker-Warburg syndrome
PharmGKBiPA30296
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3765 Eukaryota
ENOG410XRNY LUCA
GeneTreeiENSGT00530000063165
HOVERGENiHBG052308
InParanoidiO95461
KOiK09668
OMAiWNIQLSD
OrthoDBiEOG091G034V
PhylomeDBiO95461
TreeFamiTF319168

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:ENSG00000133424-MONOMER
ReactomeiR-HSA-5083627 Defective LARGE causes MDDGA6 and MDDGB6
R-HSA-5173105 O-linked glycosylation

Miscellaneous databases

ChiTaRSiLARGE1 human
GeneWikiiLARGE
GenomeRNAii9215
PROiPR:O95461
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133424 Expressed in 182 organ(s), highest expression level in forebrain
CleanExiHS_LARGE
ExpressionAtlasiO95461 baseline and differential
GenevisibleiO95461 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLARG1_HUMAN
AccessioniPrimary (citable) accession number: O95461
Secondary accession number(s): B0QXZ7
, O60348, Q17R80, Q9UGD1, Q9UGE7, Q9UGG3, Q9UGZ8, Q9UH22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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