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UniProtKB - Q9P2W7 (B3GA1_HUMAN)

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Protein

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1

Gene

B3GAT1

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

Functioni

Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group.By similarity

Catalytic activityi

UDP-alpha-D-glucuronate + [protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine = UDP + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.By similarity

Cofactori

Mn2+

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
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
Binding sitei122UDP-glucuronate1
Binding sitei165UDP-glucuronate1
Binding sitei170UDP-glucuronateBy similarity1
Metal bindingi197ManganeseBy similarity1
Active sitei284Proton donor/acceptor1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi91 – 93UDP-glucuronate binding3
Nucleotide bindingi195 – 197UDP-glucuronate binding3
Nucleotide bindingi311 – 313UDP-glucuronate binding3

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionTransferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS03272-MONOMER
BRENDAi2.4.1.135 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT43 Glycosyltransferase Family 43

Names & Taxonomyi

Protein namesi
Recommended name:
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1Curated (EC:2.4.1.135By similarity)
Alternative name(s):
Beta-1,3-glucuronyltransferase 1
Glucuronosyltransferase P
Short name:
GlcAT-PBy similarity
UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase
Short name:
GlcUAT-P
Gene namesi
Name:B3GAT1Imported
Synonyms:GLCATP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000109956.12
HGNCiHGNC:921 B3GAT1
MIMi151290 gene
neXtProtiNX_Q9P2W7

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 – 6CytoplasmicSequence analysis6
Transmembranei7 – 27Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini28 – 334LumenalSequence analysisAdd BLAST307

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi27087
OpenTargetsiENSG00000109956
PharmGKBiPA25215

Chemistry databases

DrugBankiDB01694 D-tartaric acid
DB09459 Tartaric acid
DB03435 Uridine-5'-Diphosphate

Polymorphism and mutation databases

BioMutaiB3GAT1
DMDMi205830910

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001951671 – 334Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1Add BLAST334

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei103PhosphothreonineBy similarity1
Modified residuei108PhosphothreonineBy similarity1
Glycosylationi140N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi184N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi303N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

The soluble form derives from the membrane form by proteolytic processing.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9P2W7
PeptideAtlasiQ9P2W7
PRIDEiQ9P2W7
ProteomicsDBi83905

PTM databases

iPTMnetiQ9P2W7
PhosphoSitePlusiQ9P2W7

Expressioni

Tissue specificityi

Mainly expressed in the brain.

Gene expression databases

BgeeiENSG00000109956
CleanExiHS_B3GAT1
GenevisibleiQ9P2W7 HS

Organism-specific databases

HPAiCAB002500
CAB010893
HPA069468

Interactioni

Subunit structurei

Homodimer. Interacts with SAR1A.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei228Interaction with galactose moiety of substrate glycoprotein1
Sitei321Interaction with galactose moiety of substrate glycoproteinBy similarity1

Protein-protein interaction databases

BioGridi117990, 2 interactors
IntActiQ9P2W7, 3 interactors
STRINGi9606.ENSP00000307875

Structurei

Secondary structure

1334
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi85 – 92Combined sources8
Helixi98 – 109Combined sources12
Beta strandi112 – 125Combined sources14
Helixi128 – 137Combined sources10
Beta strandi140 – 145Combined sources6
Helixi150 – 153Combined sources4
Helixi167 – 180Combined sources14
Beta strandi183 – 185Combined sources3
Beta strandi189 – 193Combined sources5
Beta strandi198 – 200Combined sources3
Helixi202 – 209Combined sources8
Beta strandi212 – 216Combined sources5
Beta strandi219 – 221Combined sources3
Beta strandi225 – 232Combined sources8
Beta strandi238 – 242Combined sources5
Beta strandi244 – 246Combined sources3
Helixi255 – 257Combined sources3
Beta strandi258 – 261Combined sources4
Helixi262 – 267Combined sources6
Beta strandi275 – 278Combined sources4
Helixi283 – 291Combined sources9
Helixi294 – 296Combined sources3
Beta strandi297 – 299Combined sources3
Helixi301 – 304Combined sources4
Helixi320 – 322Combined sources3
Turni323 – 325Combined sources3

3D structure databases

ProteinModelPortaliQ9P2W7
SMRiQ9P2W7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P2W7

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni3 – 5Essential for transport from endoplasmic reticulum to Golgi apparatus and interaction with SAR1ABy similarity3
Regioni245 – 254Interaction with galactose moiety of substrate glycoprotein10

Sequence similaritiesi

Belongs to the glycosyltransferase 43 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1476 Eukaryota
ENOG410XP79 LUCA
GeneTreeiENSGT00390000017640
HOGENOMiHOG000261693
HOVERGENiHBG050650
InParanoidiQ9P2W7
KOiK00735
OMAiCASDKDI
OrthoDBiEOG091G0G8P
PhylomeDBiQ9P2W7
TreeFamiTF313522

Family and domain databases

CDDicd00218 GlcAT-I, 1 hit
Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR005027 Glyco_trans_43
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR10896 PTHR10896, 1 hit
PfamiView protein in Pfam
PF03360 Glyco_transf_43, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9P2W7-1) [UniParc]FASTAAdd to basket
Also known as: sGlcAT-PBy similarity

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
MPKRRDILAI VLIVLPWTLL ITVWHQSTLA PLLAVHKDEG SDPRRETPPG 
        60         70         80         90        100
ADPREYCTSD RDIVEVVRTE YVYTRPPPWS DTLPTIHVVT PTYSRPVQKA 
       110        120        130        140        150
ELTRMANTLL HVPNLHWLVV EDAPRRTPLT ARLLRDTGLN YTHLHVETPR 
       160        170        180        190        200
NYKLRGDARD PRIPRGTMQR NLALRWLRET FPRNSSQPGV VYFADDDNTY 
       210        220        230        240        250
SLELFEEMRS TRRVSVWPVA FVGGLRYEAP RVNGAGKVVG WKTVFDPHRP 
       260        270        280        290        300
FAIDMAGFAV NLRLILQRSQ AYFKLRGVKG GYQESSLLRE LVTLNDLEPK 
       310        320        330 
AANCTKILVW HTRTEKPVLV NEGKKGFTDP SVEI
Length:334
Mass (Da):38,256
Last modified:July 22, 2008 - v2
Checksum:i0DF42399D19701B3
GO
Isoform 2 (identifier: Q9P2W7-2) [UniParc]FASTAAdd to basket
Also known as: lGlcAT-PBy similarity

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGNEEPWVQPALEM

Show »
Length:347
Mass (Da):39,738
Checksum:i9A9A4FCE8345C240
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti240G → R in BAA96077 (PubMed:10783264).Curated1
Sequence conflicti267Q → K in BAH13084 (PubMed:14702039).Curated1
Sequence conflicti306K → R in BAH13084 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044538131A → T. Corresponds to variant dbSNP:rs35434644Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0585381M → MGNEEPWVQPALEM in isoform 2. 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB029396 mRNA Translation: BAA96077.1
AK299637 mRNA Translation: BAH13084.1
CR457098 mRNA Translation: CAG33379.1
BC010466 mRNA Translation: AAH10466.1
CCDSiCCDS8500.1 [Q9P2W7-1]
RefSeqiNP_061114.2, NM_018644.3 [Q9P2W7-1]
NP_473366.1, NM_054025.2 [Q9P2W7-1]
XP_005271563.1, XM_005271506.3 [Q9P2W7-2]
XP_011541053.1, XM_011542751.2 [Q9P2W7-2]
XP_011541055.1, XM_011542753.2 [Q9P2W7-2]
XP_016873039.1, XM_017017550.1 [Q9P2W7-1]
XP_016873040.1, XM_017017551.1 [Q9P2W7-2]
UniGeneiHs.381050

Genome annotation databases

EnsembliENST00000312527; ENSP00000307875; ENSG00000109956 [Q9P2W7-1]
ENST00000392580; ENSP00000376359; ENSG00000109956 [Q9P2W7-1]
ENST00000524765; ENSP00000433847; ENSG00000109956 [Q9P2W7-1]
GeneIDi27087
KEGGihsa:27087
UCSCiuc001qhq.4 human [Q9P2W7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiB3GA1_HUMAN
AccessioniPrimary (citable) accession number: Q9P2W7
Secondary accession number(s): B7Z5Z8, Q96FS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: July 22, 2008
Last modified: July 18, 2018
This is version 169 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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