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Protein

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Gene

GBGT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

Catalyzes the formation of some glycolipid via the addition of N-acetylgalactosamine (GalNAc) in alpha-1,3-linkage to some substrate. Glycolipids probably serve for adherence of some pathogens.

Cofactori

Mn2+By similarityNote: Binds 1 Mn2+ ion per subunit.By similarity

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
Metal bindingi206ManganeseBy similarity1
Metal bindingi208ManganeseBy similarity1
Active sitei298NucleophileBy similarity1

GO - Molecular functioni

GO - Biological processi

  • carbohydrate metabolic process Source: InterPro
  • glycolipid biosynthetic process Source: ProtInc
  • lipid glycosylation Source: GO_Central
  • protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Manganese, Metal-binding

Enzyme and pathway databases

BRENDAi2.4.1.88. 2681.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT6. Glycosyltransferase Family 6.

Names & Taxonomyi

Protein namesi
Recommended name:
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (EC:2.4.1.-)
Alternative name(s):
Forssman glycolipid synthase-like protein
Gene namesi
Name:GBGT1
ORF Names:UNQ2513/PRO6002
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:20460. GBGT1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 5CytoplasmicSequence analysis5
Transmembranei6 – 26Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini27 – 347LumenalSequence analysisAdd BLAST321

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26301.
OpenTargetsiENSG00000148288.
PharmGKBiPA134967297.

Polymorphism and mutation databases

BioMutaiGBGT1.
DMDMi67464687.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001572951 – 347Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1Add BLAST347

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi108N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N5D6.
PRIDEiQ8N5D6.

PTM databases

iPTMnetiQ8N5D6.
PhosphoSitePlusiQ8N5D6.

Expressioni

Tissue specificityi

Widely expressed. Expressed at higher level in placenta, ovary and peripheral blood leukocyte, whereas it is weakly expressed in liver, thymus, and testis.1 Publication

Gene expression databases

BgeeiENSG00000148288.
CleanExiHS_GBGT1.
ExpressionAtlasiQ8N5D6. baseline and differential.
GenevisibleiQ8N5D6. HS.

Organism-specific databases

HPAiHPA051298.

Interactioni

Protein-protein interaction databases

IntActiQ8N5D6. 1 interactor.
STRINGi9606.ENSP00000361110.

Structurei

3D structure databases

ProteinModelPortaliQ8N5D6.
SMRiQ8N5D6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni116 – 121Substrate bindingBy similarity6
Regioni206 – 208Substrate bindingBy similarity3
Regioni228 – 231Substrate bindingBy similarity4

Domaini

The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis (By similarity).By similarity

Sequence similaritiesi

Belongs to the glycosyltransferase 6 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFQJ. Eukaryota.
ENOG4111IPQ. LUCA.
GeneTreeiENSGT00400000022032.
HOVERGENiHBG003563.
InParanoidiQ8N5D6.
KOiK00722.
OMAiCPEIFNM.
OrthoDBiEOG091G09TO.
PhylomeDBiQ8N5D6.
TreeFamiTF330991.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N5D6-1) [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
MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL
60 70 80 90 100
HYKREKPLQP VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL
110 120 130 140 150
QHIYQPLNLT IGVTVFAVGK YTHFIQSFLE SAEEFFMRGY RVHYYIFTDN
160 170 180 190 200
PAAVPGVPLG PHRLLSSIPI QGHSHWEETS MRRMETISQH IAKRAHREVD
210 220 230 240 250
YLFCLDVDMV FRNPWGPETL GDLVAAIHPS YYAVPRQQFP YERRRVSTAF
260 270 280 290 300
VADSEGDFYY GGAVFGGQVA RVYEFTRGCH MAILADKANG IMAAWREESH
310 320 330 340
LNRHFISNKP SKVLSPEYLW DDRKPQPPSL KLIRFSTLDK DISCLRS
Length:347
Mass (Da):40,127
Last modified:May 10, 2005 - v2
Checksum:i99987D43B22344A0
GO
Isoform 2 (identifier: Q8N5D6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     120-347: KYTHFIQSFL...LDKDISCLRS → NPSWSQPRSS...SWLPGGRKAT

Note: No experimental confirmation available.
Show »
Length:294
Mass (Da):32,687
Checksum:i4FC38271E20C577F
GO
Isoform 3 (identifier: Q8N5D6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     46-63: FNMKLHYKREKPLQPVVW → L

Note: No experimental confirmation available.
Show »
Length:330
Mass (Da):37,945
Checksum:iDBF7B5A9A1BCDE3D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti163R → Q in AAF06145 (PubMed:10506200).Curated1
Sequence conflicti202L → F in AAF06145 (PubMed:10506200).Curated1
Sequence conflicti254S → R in AAF06145 (PubMed:10506200).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02245220L → F.4 PublicationsCorresponds to variant rs2073924dbSNPEnsembl.1
Natural variantiVAR_02506821S → G.1 PublicationCorresponds to variant rs35578482dbSNPEnsembl.1
Natural variantiVAR_02506979L → P.1 PublicationCorresponds to variant rs12350913dbSNPEnsembl.1
Natural variantiVAR_025070163R → W.1 PublicationCorresponds to variant rs34260370dbSNPEnsembl.1
Natural variantiVAR_025071200D → N.1 PublicationCorresponds to variant rs34903033dbSNPEnsembl.1
Natural variantiVAR_025072238Q → P.1 PublicationCorresponds to variant rs35366884dbSNPEnsembl.1
Natural variantiVAR_025073248T → I.1 PublicationCorresponds to variant rs35184631dbSNPEnsembl.1
Natural variantiVAR_025074291I → F.1 PublicationCorresponds to variant rs35403335dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05537546 – 63FNMKL…QPVVW → L in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_013750120 – 347KYTHF…SCLRS → NPSWSQPRSSSCVGTGCTTT SSLTTLQPFPGSRWVPTGFS APSPSRVTPTGRRHPCAGWR PSASTLLRGLTGRWTTSSAL MWTWCFGTRGALRPWETWWL PFTQATTPFPASSSPMSAGV FPLPLWQTAKGTSIMVGQSS GGRWPGYMSLLGAATWPSWR TRPMASWLPGGRKAT in isoform 2. 1 PublicationAdd BLAST228

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF163572 Transcribed RNA. Translation: AAF06145.1.
AY358175 mRNA. Translation: AAQ88542.1.
AK074639 mRNA. Translation: BAC11106.1.
AK291498 mRNA. Translation: BAF84187.1.
AK303825 mRNA. Translation: BAH14061.1.
AK314097 mRNA. Translation: BAG36792.1.
DQ145941 Genomic DNA. Translation: AAZ38721.1.
AL162417 Genomic DNA. Translation: CAI13418.1.
AL162417 Genomic DNA. Translation: CAI13420.1.
CH471090 Genomic DNA. Translation: EAW88045.1.
BC032499 mRNA. Translation: AAH32499.1.
CCDSiCCDS65175.1. [Q8N5D6-3]
CCDS65176.1. [Q8N5D6-2]
CCDS6960.1. [Q8N5D6-1]
RefSeqiNP_001269558.1. NM_001282629.1. [Q8N5D6-2]
NP_001269561.1. NM_001282632.1. [Q8N5D6-3]
NP_001275501.1. NM_001288572.1.
NP_001275502.1. NM_001288573.1.
NP_068836.2. NM_021996.5. [Q8N5D6-1]
UniGeneiHs.495419.

Genome annotation databases

EnsembliENST00000372040; ENSP00000361110; ENSG00000148288. [Q8N5D6-1]
ENST00000372043; ENSP00000361113; ENSG00000148288. [Q8N5D6-2]
ENST00000540636; ENSP00000437663; ENSG00000148288. [Q8N5D6-3]
GeneIDi26301.
KEGGihsa:26301.
UCSCiuc004ccw.5. human. [Q8N5D6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

SeattleSNPs
Functional Glycomics Gateway - GTase

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF163572 Transcribed RNA. Translation: AAF06145.1.
AY358175 mRNA. Translation: AAQ88542.1.
AK074639 mRNA. Translation: BAC11106.1.
AK291498 mRNA. Translation: BAF84187.1.
AK303825 mRNA. Translation: BAH14061.1.
AK314097 mRNA. Translation: BAG36792.1.
DQ145941 Genomic DNA. Translation: AAZ38721.1.
AL162417 Genomic DNA. Translation: CAI13418.1.
AL162417 Genomic DNA. Translation: CAI13420.1.
CH471090 Genomic DNA. Translation: EAW88045.1.
BC032499 mRNA. Translation: AAH32499.1.
CCDSiCCDS65175.1. [Q8N5D6-3]
CCDS65176.1. [Q8N5D6-2]
CCDS6960.1. [Q8N5D6-1]
RefSeqiNP_001269558.1. NM_001282629.1. [Q8N5D6-2]
NP_001269561.1. NM_001282632.1. [Q8N5D6-3]
NP_001275501.1. NM_001288572.1.
NP_001275502.1. NM_001288573.1.
NP_068836.2. NM_021996.5. [Q8N5D6-1]
UniGeneiHs.495419.

3D structure databases

ProteinModelPortaliQ8N5D6.
SMRiQ8N5D6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8N5D6. 1 interactor.
STRINGi9606.ENSP00000361110.

Protein family/group databases

CAZyiGT6. Glycosyltransferase Family 6.

PTM databases

iPTMnetiQ8N5D6.
PhosphoSitePlusiQ8N5D6.

Polymorphism and mutation databases

BioMutaiGBGT1.
DMDMi67464687.

Proteomic databases

PaxDbiQ8N5D6.
PRIDEiQ8N5D6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372040; ENSP00000361110; ENSG00000148288. [Q8N5D6-1]
ENST00000372043; ENSP00000361113; ENSG00000148288. [Q8N5D6-2]
ENST00000540636; ENSP00000437663; ENSG00000148288. [Q8N5D6-3]
GeneIDi26301.
KEGGihsa:26301.
UCSCiuc004ccw.5. human. [Q8N5D6-1]

Organism-specific databases

CTDi26301.
DisGeNETi26301.
GeneCardsiGBGT1.
HGNCiHGNC:20460. GBGT1.
HPAiHPA051298.
MIMi606074. gene.
neXtProtiNX_Q8N5D6.
OpenTargetsiENSG00000148288.
PharmGKBiPA134967297.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFQJ. Eukaryota.
ENOG4111IPQ. LUCA.
GeneTreeiENSGT00400000022032.
HOVERGENiHBG003563.
InParanoidiQ8N5D6.
KOiK00722.
OMAiCPEIFNM.
OrthoDBiEOG091G09TO.
PhylomeDBiQ8N5D6.
TreeFamiTF330991.

Enzyme and pathway databases

UniPathwayiUPA00378.
BRENDAi2.4.1.88. 2681.

Miscellaneous databases

GeneWikiiGBGT1.
GenomeRNAii26301.
PROiQ8N5D6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148288.
CleanExiHS_GBGT1.
ExpressionAtlasiQ8N5D6. baseline and differential.
GenevisibleiQ8N5D6. HS.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERiPTHR10462. PTHR10462. 1 hit.
PfamiPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiGBGT1_HUMAN
AccessioniPrimary (citable) accession number: Q8N5D6
Secondary accession number(s): A8K633
, B2RA95, B7Z8S5, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q9UKI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: November 30, 2016
This is version 124 of the entry and version 2 of the sequence. [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

Caution

In contrast to its mouse or canine ortholog, it does not mediate the formation of Forssman glycolipid (also called Forssman antigen; FG), which does not exist in human. It is unknown whether it has no enzyme activity at all or has some distinct substrate specificity compared to the canine and mouse protein.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.