Beta-1,4 N-acetylgalactosaminyltransferase 1

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Q00973 (B4GN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 127. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

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) [Reference proteome]

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.
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-alpha-D-galactosamine + O-(N-acetyl-alpha-neuraminyl)-(2->3)-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-ceramide = UDP + O-2-(acetylamino)-2-deoxy-beta-D-galactopyranosyl-(1->4)-O-(N-acetyl-alpha-neuraminyl-(2->3))-O-beta-D-galactopyranosyl-(1->4)-beta-D-glucopyranosyl-(1<->1)-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 Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	carbohydrate metabolic process Traceable author statement Ref.1. Source: ProtInc ganglioside biosynthetic process Inferred from electronic annotation. Source: Compara glycosphingolipid metabolic process Traceable author statement Ref.1. Source: ProtInc lipid glycosylation Inferred from electronic annotation. Source: InterPro lipid storage Inferred from electronic annotation. Source: Compara protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway spermatogenesis Inferred from electronic annotation. Source: Compara
Cellular_component	integral to Golgi membrane Inferred from electronic annotation. Source: InterPro membrane Traceable author statement Ref.1. Source: ProtInc plasma membrane Inferred from electronic annotation. Source: Compara
Molecular_function	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Traceable author statement PubMed 8702839. 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

Cytoplasmic Potential

Transmembrane

8 – 25

Helical; Signal-anchor for type II membrane protein; Potential

Topological domain

26 – 533

508

Lumenal Potential

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Glycosylation

179

N-linked (GlcNAc...) Potential

Glycosylation

274

N-linked (GlcNAc...) Potential

Disulfide bond

Interchain (with C-412) Ref.3

Disulfide bond

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

L → V.
Corresponds to variant rs774896 [ dbSNP | Ensembl ].

VAR_012052

Natural variant

172

G → R.
Corresponds to variant rs810205 [ dbSNP | Ensembl ].

VAR_012053

Natural variant

516

A → V.
Corresponds to variant rs17454674 [ dbSNP | Ensembl ].

VAR_049237

Sequences

Sequence

Length

Mass (Da)

Tools

Q00973 [UniParc].

Last modified November 1, 1995. Version 2.
Checksum: 533946E05E2A102B
Show »

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

« Hide

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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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
EMBL GenBank DDBJ	M83651 mRNA. Translation: AAA35516.1.
IPI	IPI00025473.
PIR	A44128. A54379.
RefSeq	NP_001469.1. NM_001478.4.
UniGene	Hs.159481.
3D structure databases
ProteinModelPortal	Q00973.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000341562.
Protein family/group databases
CAZy	GT12. Glycosyltransferase Family 12.
PTM databases
PhosphoSite	Q00973.
Polymorphism databases
DMDM	1168736.
Proteomic databases
PaxDb	Q00973.
PRIDE	Q00973.
Protocols and materials databases
DNASU	2583.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000341156; ENSP00000341562; ENSG00000135454.
GeneID	2583.
KEGG	hsa:2583.
UCSC	uc001spg.1. human.
Organism-specific databases
CTD	2583.
GeneCards	GC12M058019.
HGNC	HGNC:4117. B4GALNT1.
HPA	HPA008968. HPA015128.
MIM	601873. gene.
neXtProt	NX_Q00973.
PharmGKB	PA28532.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40821.
HOGENOM	HOG000220853.
HOVERGEN	HBG004812.
InParanoid	Q00973.
KO	K00725.
OMA	IEHYLMP.
PhylomeDB	Q00973.
Enzyme and pathway databases
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q00973.
Bgee	Q00973.
CleanEx	HS_B4GALNT1.
Genevestigator	Q00973.
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
GenomeRNAi	2583.
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:	May 1, 2013
This is version 127 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.

Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

Protein family/group databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents