Reviewed,
UniProtKB/Swiss-Prot Q8NHY0 (B4GN2_HUMAN)
Last modified
June 16, 2009.
Version 51.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Beta-1,4 N-acetylgalactosaminyltransferase 2 EC=2.4.1.- Alternative name(s): Sd(a) beta-1,4-GalNAc transferase UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase | ||||
| Gene names |
| ||||
| 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 | 566 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Involved in the synthesis of the Sd(a) antigen (Sia-alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain. Ref.1 Ref.2 |
| Pathway | |
| Subcellular location | Golgi apparatus membrane; Single-pass type II membrane protein Potential. |
| Tissue specificity | Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum. Ref.1 |
| Sequence similarities | Belongs to the glycosyltransferase 2 family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Golgi apparatus Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal-anchor Transmembrane |
| Molecular function | Glycosyltransferase Transferase |
| Gene Ontology (GO) | |
| Biological process | UDP-N-acetylgalactosamine metabolic process Ref.1 Ref.2 Inferred from direct assay. Source: UniProtKB lipid glycosylationInferred from electronic annotation. Source: InterPro negative regulation of cell-cell adhesionInferred from direct assay. Source: UniProtKB |
| Cellular component | integral to Golgi membrane Inferred from electronic annotation. Source: InterPro |
| Molecular function | acetylgalactosaminyltransferase activity Ref.1 Ref.2 Inferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NHY0-1) 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: Q8NHY0-2) The sequence of this isoform differs from the canonical sequence as follows: 1-64: MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGDLCLELRGADPAWGPFAAHGRSRRQ → MTSG |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 566 | 566 | Beta-1,4 N-acetylgalactosaminyltransferase 2 | PRO_0000059103 | |||||
Regions | |||||||||
| Topological domain | 1 – 67 | 67 | Cytoplasmic Potential | ||||||
| Transmembrane | 68 – 88 | 21 | Signal-anchor for type II membrane protein Potential | ||||||
| Topological domain | 89 – 566 | 478 | Lumenal Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 64 | 64 | MGSAG…RSRRQ → MTSG in isoform 2. | VSP_017131 | |||||
| Natural variant | 40 | 1 | D → A: dbSNP rs7207403. | VAR_049238 | |||||
| Natural variant | 459 | 1 | P → H in a colorectal cancer sample; somatic mutation. Ref.4 | VAR_035990 | |||||
| Natural variant | 466 | 1 | C → R: dbSNP rs7224888. | VAR_049239 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning, gene organization and expression of the human UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase responsible for the biosynthesis of the blood group Sda/Cad antigen: evidence for an unusual extended cytoplasmic domain." Montiel M.D., Krzewinski-Recchi M.A., Delannoy P., Harduin-Lepers A. Biochem. J. 373:369-379(2003) [PubMed: 12678917] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY. |
| [2] | "Molecular cloning of the human beta1,4 N-acetylgalactosaminyltransferase responsible for the biosynthesis of the Sd(a) histo-blood group antigen: the sequence predicts a very long cytoplasmic domain." Lo Presti L., Cabuy E., Chiricolo M., Dall'Olio F. J. Biochem. 134:675-682(2003) [PubMed: 14688233] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION. |
| [3] | "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). |
| [4] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-459. |
| + | Additional computationally mapped references. |
Web resources
| GGDB GlycoGene database |
| Functional Glycomics Gateway - GTase Beta-1,4 N-acetylgalactosaminyltransferase 2 |
Cross-references
Sequence databases | |
|---|---|
| AJ517770 mRNA. Translation: CAD57148.1. AJ517771 mRNA. Translation: CAD57149.1. AF510036 mRNA. Translation: AAM34756.1. BC113675 mRNA. Translation: AAI13676.1. BC113677 mRNA. Translation: AAI13678.1. | |
| IPI | IPI00169373. IPI00718973. |
| RefSeq | NP_703147.1. |
| UniGene | Hs.374679 |
3D structure databases | |
| ModBase | Search... |
Protein family/group databases | |
| CAZy | GT12. Glycosyltransferase Family 12. |
PTM databases | |
| PhosphoSite | Q8NHY0. |
Proteomic databases | |
| PRIDE | Q8NHY0. |
Genome annotation databases | |
| Ensembl | ENSG00000167080. Homo sapiens. [Contig view] |
| GeneID | 124872. |
| KEGG | hsa:124872. |
Organism-specific databases | |
| GeneCards | GC17P044566. |
| H-InvDB | HIX0039091. |
| HGNC | HGNC:24136. B4GALNT2. |
| HPA | HPA015721. |
| PharmGKB | PA134988070. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q8NHY0. |
| HOVERGEN | Q8NHY0. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.165. 247. |
Gene expression databases | |
| ArrayExpress | Q8NHY0. |
| Bgee | Q8NHY0. |
| CleanEx | HS_B4GALNT2. |
| GermOnline | ENSG00000167080. 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 | 81412. |
Entry information
| Entry name | B4GN2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NHY0 Secondary accession number(s): Q14CP1, Q86Y40 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 17 Human chromosome 17: 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 |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with


