Q8N5D6 (GBGT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	347 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: InterPro glycolipid biosynthetic process Traceable author statement. Source: ProtInc
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 347	347	Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1		PRO_0000157295
Regions
	Topological domain	1 – 5	5	Cytoplasmic Potential
	Transmembrane	6 – 26	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	27 – 347	321	Lumenal Potential
Sites
	Metal binding	206	1	Manganese By similarity
	Metal binding	208	1	Manganese By similarity
Amino acid modifications
	Modified residue	337	1	Phosphothreonine Ref.8
	Modified residue	347	1	Phosphoserine Ref.8
	Glycosylation	108	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	120 – 347	228	KYTHF…SCLRS → NPSWSQPRSSSCVGTGCTTT SSLTTLQPFPGSRWVPTGFS APSPSRVTPTGRRHPCAGWR PSASTLLRGLTGRWTTSSAL MWTWCFGTRGALRPWETWWL PFTQATTPFPASSSPMSAGV FPLPLWQTAKGTSIMVGQSS GGRWPGYMSLLGAATWPSWR TRPMASWLPGGRKAT in isoform 2.		VSP_013750
	Natural variant	20	1	L → F. Ref.2 Ref.3 Ref.4 Ref.7 Corresponds to variant rs2073924 [ dbSNP | Ensembl ].		VAR_022452
	Natural variant	21	1	S → G. Ref.4 Corresponds to variant rs35578482 [ dbSNP | Ensembl ].		VAR_025068
	Natural variant	79	1	L → P. Ref.4 Corresponds to variant rs12350913 [ dbSNP | Ensembl ].		VAR_025069
	Natural variant	163	1	R → W. Ref.4 Corresponds to variant rs34260370 [ dbSNP | Ensembl ].		VAR_025070
	Natural variant	200	1	D → N. Ref.4 Corresponds to variant rs34903033 [ dbSNP | Ensembl ].		VAR_025071
	Natural variant	238	1	Q → P. Ref.4 Corresponds to variant rs35366884 [ dbSNP | Ensembl ].		VAR_025072
	Natural variant	248	1	T → I. Ref.4 Corresponds to variant rs35184631 [ dbSNP | Ensembl ].		VAR_025073
	Natural variant	291	1	I → F. Ref.4 Corresponds to variant rs35403335 [ dbSNP | Ensembl ].		VAR_025074
Experimental info
	Sequence conflict	163	1	R → Q in AAF06145. Ref.1
	Sequence conflict	202	1	L → F in AAF06145. Ref.1
	Sequence conflict	254	1	S → R in AAF06145. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 10, 2005. Version 2. Checksum: 99987D43B22344A0	FASTA	347	40,127
	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
	Isoform 2 [UniParc]. Checksum: 4FC38271E20C577F	FASTA	294	32,687
	10 20 30 40 50 60 MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL HYKREKPLQP 70 80 90 100 110 120 VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL QHIYQPLNLT IGVTVFAVGN 130 140 150 160 170 180 PSWSQPRSSS CVGTGCTTTS SLTTLQPFPG SRWVPTGFSA PSPSRVTPTG RRHPCAGWRP 190 200 210 220 230 240 SASTLLRGLT GRWTTSSALM WTWCFGTRGA LRPWETWWLP FTQATTPFPA SSSPMSAGVF 250 260 270 280 290 PLPLWQTAKG TSIMVGQSSG GRWPGYMSLL GAATWPSWRT RPMASWLPGG RKAT

References

	« Hide 'large scale' referencesShow '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: 10506200] [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. , 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: 12975309] [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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PHE-20. Tissue: Adrenal gland and Embryo.
[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. , 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: 15164053] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PHE-20. Tissue: Pancreas.
[8]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-337 AND SER-347, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	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. 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.
IPI	IPI00328941. IPI00384020.
RefSeq	NP_068836.2. NM_021996.4.
UniGene	Hs.495419.
3D structure databases
ProteinModelPortal	Q8N5D6.
SMR	Q8N5D6. Positions 65-347.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N5D6. 1 interaction.
STRING	Q8N5D6.
Protein family/group databases
CAZy	GT6. Glycosyltransferase Family 6.
Polymorphism databases
DMDM	67464687.
Proteomic databases
PRIDE	Q8N5D6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372040; ENSP00000361110; ENSG00000148288.
GeneID	26301.
KEGG	hsa:26301.
UCSC	uc004ccw.1. human.
Organism-specific databases
CTD	26301.
GeneCards	GC09M136028.
HGNC	HGNC:20460. GBGT1.
MIM	606074. gene.
neXtProt	NX_Q8N5D6.
PharmGKB	PA134967297.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10480.
GeneTree	ENSGT00400000022032.
HOVERGEN	HBG003563.
InParanoid	Q8N5D6.
OMA	KANGIMA.
OrthoDB	EOG4D26Q7.
PhylomeDB	Q8N5D6.
Gene expression databases
ArrayExpress	Q8N5D6.
Bgee	Q8N5D6.
CleanEx	HS_GBGT1.
Genevestigator	Q8N5D6.
GermOnline	ENSG00000148288. Homo sapiens.
Family and domain databases
InterPro	IPR005076. Glyco_trans_6. [Graphical view]
KO	K00722.
PANTHER	PTHR10462. Glyco_trans_6. 1 hit.
Pfam	PF03414. Glyco_transf_6. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	48653.
SOURCE	Search...

Entry information

Entry name

GBGT1_HUMAN

Accession

Primary (citable) accession number: Q8N5D6
Secondary accession number(s): A8K633 , B2RA95, Q45F07, Q5T7U9, Q5T7V1, Q8N2K4, Q9UKI5

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 10, 2005
Last sequence update:	May 10, 2005
Last modified:	January 25, 2012
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.