Reviewed, UniProtKB/Swiss-Prot Q00973 (B4GN1_HUMAN)

Names and origin

Protein names

Recommended name:
    Beta-1,4 N-acetylgalactosaminyltransferase 1
    EC=2.4.1.92
Alternative name(s):
    (N-acetylneuraminyl)-galactosylglucosylceramide
    GM2/GD2 synthase
    GalNAc-T

Gene names

Name:	B4GALNT1
Synonyms:	GALGT, SIAT2

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	533 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Involved in the biosynthesis of gangliosides GM2, GD2 and GA2.
Catalytic activity	UDP-N-acetyl-D-galactosamine + 1-O-(O-(N-acetyl-alpha-neuraminosyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl)-ceramide = UDP + 1-O-(O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminosyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl)-ceramide.
Pathway	Protein modification; protein glycosylation.
Subunit structure	Homodimer; disulfide-linked. Ref.3
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein.
Sequence similarities	Belongs to the glycosyltransferase 2 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Ref.1 Traceable author statement. Source: ProtInc lipid glycosylation Inferred from electronic annotation. Source: InterPro
Cellular component	integral to Golgi membrane Inferred from electronic annotation. Source: InterPro membrane fraction Ref.1 Traceable author statement. Source: ProtInc
Molecular function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 533	533	Beta-1,4 N-acetylgalactosaminyltransferase 1		PRO_0000059100
Regions
	Topological domain	1 – 7	7	Cytoplasmic Potential
	Transmembrane	8 – 25	18	Signal-anchor for type II membrane protein Potential
	Topological domain	26 – 533	508	Lumenal Potential
Amino acid modifications
	Glycosylation	79	1	N-linked (GlcNAc...) Potential
	Glycosylation	179	1	N-linked (GlcNAc...) Potential
	Glycosylation	274	1	N-linked (GlcNAc...) Potential
	Disulfide bond	80		Interchain (with C-412) Ref.3
	Disulfide bond	82		Interchain (with C-529) Ref.3
	Disulfide bond	412		Interchain (with C-80) Ref.3
	Disulfide bond	429 ↔ 476		Ref.3
	Disulfide bond	529		Interchain (with C-82) Ref.3
Natural variations
	Natural variant	35	1	L → V: dbSNP rs774896.		VAR_012052
	Natural variant	172	1	G → R: dbSNP rs810205.		VAR_012053
	Natural variant	516	1	A → V: dbSNP rs17454674.		VAR_049237

Sequences

	Sequence		Length	Mass (Da)
	Q00973-1 [UniParc]. Last modified November 1, 1995. Version 2. Checksum: 533946E05E2A102B	FASTA	533	58,882
	10 20 30 40 50 60 MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE LPDLAPEPRY 70 80 90 100 110 120 AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ 130 140 150 160 170 180 EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL 190 200 210 220 230 240 TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF 250 260 270 280 290 300 STEGHEAAFT IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR 310 320 330 340 350 360 RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK YVLWVDDDFV 370 380 390 400 410 420 FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL SVEPGAPGLG NCLRQRRGFH 430 440 450 460 470 480 HELVGFPGCV VTDGVVNFFL ARTDKVREVG FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV 490 500 510 520 530 VDHASKLKLP WTSRDAGAET YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ

References

[1]	"Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides." Nagata Y., Yamashiro S., Yodoi J., Lloyd K.O., Shiku H., Furukawa K. J. Biol. Chem. 267:12082-12089(1992) [PubMed: 1601877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides." Nagata Y., Yamashiro S., Yodoi J., Lloyd K.O., Shiku H., Furukawa K. J. Biol. Chem. 269:7045-7045(1994) [PubMed: 8120069] [Abstract] Cited for: SEQUENCE REVISION TO 412-533.
[3]	"Disulfide bonds of GM2 synthase homodimers. Antiparallel orientation of the catalytic domains." Li J., Yen T.Y., Allende M.L., Joshi R.K., Cai J., Pierce W.M., Jaskiewicz E., Darling D.S., Macher B.A., Young W.W. Jr. J. Biol. Chem. 275:41476-41486(2000) [PubMed: 11018043] [Abstract] Cited for: DISULFIDE BONDS.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4 N-acetylgalactosaminyltransferase 1

Cross-references

Sequence databases
EMBLGenBankDDBJ	M83651 mRNA. Translation: AAA35516.1.
IPI	IPI00025473.
PIR	A44128. A54379.
RefSeq	NP_001469.1.
UniGene	Hs.591019
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT12. Glycosyltransferase Family 12.
Proteomic databases
PRIDE	Q00973.
Genome annotation databases
Ensembl	ENSG00000135454. Homo sapiens. [Contig view]
GeneID	2583.
KEGG	hsa:2583.
Organism-specific databases
GeneCards	GC12M056306.
H-InvDB	HIX0010749.
HGNC	HGNC:4117. B4GALNT1.
HPA	HPA008968. HPA015128.
MIM	601873. gene.
PharmGKB	PA28532.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q00973.
HOVERGEN	Q00973.
OMA	Q00973. APGLGNC.
Enzyme and pathway databases
BRENDA	2.4.1.92. 247.
Gene expression databases
Bgee	Q00973.
CleanEx	HS_B4GALNT1.
GermOnline	ENSG00000135454. Homo sapiens.
Family and domain databases
InterPro	IPR001173. Glyco_trans_2. IPR011143. GM2_synthase. [Graphical view]
Pfam	PF00535. Glycos_transf_2. 1 hit. [Graphical view]
PIRSF	PIRSF000474. GM2_GD2_synthase. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	10219.
SOURCE	Search...

Entry information

Entry name

B4GN1_HUMAN

Accession

Primary (citable) accession number: Q00973

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 1, 1994
Last sequence update:	November 1, 1995
Last modified:	June 16, 2009
This is version 89 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)