Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8N5D6 (GBGT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

EC=2.4.1.-
Alternative name(s):
Forssman glycolipid synthase-like protein
Gene names
Name:GBGT1
ORF Names:UNQ2513/PRO6002
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length347 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Cofactor

Manganese By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein Potential.

Tissue specificity

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

Domain

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.

Sequence similarities

Belongs to the glycosyltransferase 6 family.

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.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N5D6-1)

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.
Isoform 2 (identifier: Q8N5D6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     120-347: KYTHFIQSFL...LDKDISCLRS → NPSWSQPRSS...SWLPGGRKAT
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8N5D6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     46-63: FNMKLHYKREKPLQPVVW → L
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 347347Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
PRO_0000157295

Regions

Topological domain1 – 55Cytoplasmic Potential
Transmembrane6 – 2621Helical; Signal-anchor for type II membrane protein; Potential
Topological domain27 – 347321Lumenal Potential

Sites

Metal binding2061Manganese By similarity
Metal binding2081Manganese By similarity

Amino acid modifications

Glycosylation1081N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence46 – 6318FNMKL…QPVVW → L in isoform 3.
VSP_055375
Alternative sequence120 – 347228KYTHF…SCLRS → NPSWSQPRSSSCVGTGCTTT SSLTTLQPFPGSRWVPTGFS APSPSRVTPTGRRHPCAGWR PSASTLLRGLTGRWTTSSAL MWTWCFGTRGALRPWETWWL PFTQATTPFPASSSPMSAGV FPLPLWQTAKGTSIMVGQSS GGRWPGYMSLLGAATWPSWR TRPMASWLPGGRKAT in isoform 2.
VSP_013750
Natural variant201L → F. Ref.2 Ref.3 Ref.4 Ref.7
Corresponds to variant rs2073924 [ dbSNP | Ensembl ].
VAR_022452
Natural variant211S → G. Ref.4
Corresponds to variant rs35578482 [ dbSNP | Ensembl ].
VAR_025068
Natural variant791L → P. Ref.4
Corresponds to variant rs12350913 [ dbSNP | Ensembl ].
VAR_025069
Natural variant1631R → W. Ref.4
Corresponds to variant rs34260370 [ dbSNP | Ensembl ].
VAR_025070
Natural variant2001D → N. Ref.4
Corresponds to variant rs34903033 [ dbSNP | Ensembl ].
VAR_025071
Natural variant2381Q → P. Ref.4
Corresponds to variant rs35366884 [ dbSNP | Ensembl ].
VAR_025072
Natural variant2481T → I. Ref.4
Corresponds to variant rs35184631 [ dbSNP | Ensembl ].
VAR_025073
Natural variant2911I → F. Ref.4
Corresponds to variant rs35403335 [ dbSNP | Ensembl ].
VAR_025074

Experimental info

Sequence conflict1631R → Q in AAF06145. Ref.1
Sequence conflict2021L → F in AAF06145. Ref.1
Sequence conflict2541S → R in AAF06145. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 10, 2005. Version 2.
Checksum: 99987D43B22344A0

FASTA34740,127
        10         20         30         40         50         60 
MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL HYKREKPLQP 

        70         80         90        100        110        120 
VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL QHIYQPLNLT IGVTVFAVGK 

       130        140        150        160        170        180 
YTHFIQSFLE SAEEFFMRGY RVHYYIFTDN PAAVPGVPLG PHRLLSSIPI QGHSHWEETS 

       190        200        210        220        230        240 
MRRMETISQH IAKRAHREVD YLFCLDVDMV FRNPWGPETL GDLVAAIHPS YYAVPRQQFP 

       250        260        270        280        290        300 
YERRRVSTAF VADSEGDFYY GGAVFGGQVA RVYEFTRGCH MAILADKANG IMAAWREESH 

       310        320        330        340 
LNRHFISNKP SKVLSPEYLW DDRKPQPPSL KLIRFSTLDK DISCLRS 

« Hide

Isoform 2 [UniParc].

Checksum: 4FC38271E20C577F
Show »

FASTA29432,687
Isoform 3 [UniParc].

Checksum: DBF7B5A9A1BCDE3D
Show »

FASTA33037,945

References

« Hide 'large scale' references
[1]"Characterization of the human Forssman synthetase gene: an evolving association between glycolipid synthesis and host-microbial interactions."
Xu H., Storch T., Yu M., Elliott S.P., Haslam D.B.
J. Biol. Chem. 274:29390-29398(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), LACK OF FORSSMAN SYNTHASE ACTIVITY, TISSUE SPECIFICITY.
Tissue: Substantia nigra.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-20.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT PHE-20.
Tissue: Adrenal gland, Embryo and Lung.
[4]SeattleSNPs variation discovery resource
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PHE-20; GLY-21; PRO-79; TRP-163; ASN-200; PRO-238; ILE-248 AND PHE-291.
[5]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-20.
Tissue: Pancreas.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

SeattleSNPs
Functional Glycomics Gateway - GTase

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS65176.1. [Q8N5D6-2]
CCDS6960.1. [Q8N5D6-1]
RefSeqNP_001269558.1. NM_001282629.1. [Q8N5D6-2]
NP_001275501.1. NM_001288572.1.
NP_001275502.1. NM_001288573.1.
NP_068836.2. NM_021996.5. [Q8N5D6-1]
UniGeneHs.495419.

3D structure databases

ProteinModelPortalQ8N5D6.
SMRQ8N5D6. Positions 66-338.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActQ8N5D6. 1 interaction.
STRING9606.ENSP00000361110.

Protein family/group databases

CAZyGT6. Glycosyltransferase Family 6.

Polymorphism databases

DMDM67464687.

Proteomic databases

PaxDbQ8N5D6.
PRIDEQ8N5D6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372040; ENSP00000361110; ENSG00000148288. [Q8N5D6-1]
ENST00000372043; ENSP00000361113; ENSG00000148288. [Q8N5D6-2]
ENST00000540636; ENSP00000437663; ENSG00000148288.
GeneID26301.
KEGGhsa:26301.
UCSCuc004ccw.3. human. [Q8N5D6-1]

Organism-specific databases

CTD26301.
GeneCardsGC09M136028.
HGNCHGNC:20460. GBGT1.
HPAHPA051298.
MIM606074. gene.
neXtProtNX_Q8N5D6.
PharmGKBPA134967297.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG43612.
HOVERGENHBG003563.
InParanoidQ8N5D6.
KOK00722.
OMAPCPEIFN.
OrthoDBEOG72JWGX.
PhylomeDBQ8N5D6.
TreeFamTF330991.

Enzyme and pathway databases

UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ8N5D6.
BgeeQ8N5D6.
CleanExHS_GBGT1.
GenevestigatorQ8N5D6.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR005076. Glyco_trans_6.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PANTHERPTHR10462. PTHR10462. 1 hit.
PfamPF03414. Glyco_transf_6. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GeneWikiGBGT1.
GenomeRNAi26301.
NextBio48653.
PROQ8N5D6.
SOURCESearch...

Entry information

Entry nameGBGT1_HUMAN
AccessionPrimary (citable) accession number: Q8N5D6
Secondary accession number(s): A8K633 expand/collapse secondary AC list , B2RA95, B7Z8S5, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q9UKI5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2005
Last sequence update: May 10, 2005
Last modified: July 9, 2014
This is version 104 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM