Reviewed,
UniProtKB/Swiss-Prot Q9UBQ6 (EXTL2_HUMAN)
Last modified
July 7, 2009.
Version 78.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Exostosin-like 2 EC=2.4.1.223 Alternative name(s): Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase Alpha-1,4-N-acetylhexosaminyltransferase EXTL2 Alpha-GalNAcT EXTL2 EXT-related protein 2 Cleaved into the following chain: 1- Recommended name: Processed exostosin-like 2 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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 | 330 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. Ref.4 |
| Catalytic activity | UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan. |
| Pathway | |
| Subcellular location | Endoplasmic reticulum membrane; Single-pass type II membrane protein By similarity. Processed exostosin-like 2: Secreted. Note: A soluble form is found in the serum. Ref.3 |
| Tissue specificity | Ubiquitous. |
| Post-translational modification | The soluble form derives from the membrane form by proteolytic processing. |
| Sequence similarities | Belongs to the glycosyltransferase 47 family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 330 | 330 | Exostosin-like 2 | PRO_0000149655 | |||||||
| Chain | ? – 330 | Processed exostosin-like 2 | PRO_0000296227 | ||||||||
Regions | |||||||||||
| Topological domain | 1 – 22 | 22 | Cytoplasmic Potential | ||||||||
| Transmembrane | 23 – 43 | 21 | Signal-anchor for type II membrane protein Potential | ||||||||
| Topological domain | 44 – 330 | 287 | Lumenal Potential | ||||||||
Sites | |||||||||||
| Metal binding | 152 | 1 | Manganese; catalytic By similarity | ||||||||
| Site | 53 – 54 | 2 | Cleavage | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 74 | 1 | N-linked (GlcNAc...) | ||||||||
| Disulfide bond | 243 ↔ 296 | By similarity | |||||||||
Sequences
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References
| [1] | "Identification and characterization of a novel member of the EXT gene family, EXTL2." Wuyts W., Van Hul W., Hendrickx J., Speleman F., Wauters J., De Boulle K., Van Roy N., Van Agtmael T., Bossuyt P., Willems P.J. Eur. J. Hum. Genet. 5:382-389(1997) [PubMed: 9450183] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family." Saito T., Seki N., Yamauchi M., Tsuji S., Hayashi A., Kozuma S., Hori T.-A. Biochem. Biophys. Res. Commun. 243:61-66(1998) [PubMed: 9473480] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate." McCormick C., Duncan G., Goutsos K.T., Tufaro F. Proc. Natl. Acad. Sci. U.S.A. 97:668-673(2000) [PubMed: 10639137] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [4] | "The tumor suppressor EXT-like gene EXTL2 encodes an alpha1, 4-N-acetylhexosaminyltransferase that transfers N-acetylgalactosamine and N-acetylglucosamine to the common glycosaminoglycan-protein linkage region. The key enzyme for the chain initiation of heparan sulfate." Kitagawa H., Shimakawa H., Sugahara K. J. Biol. Chem. 274:13933-13937(1999) [PubMed: 10318803] [Abstract] Cited for: FUNCTION, PROTEIN SEQUENCE OF 54-83. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF000416 mRNA. Translation: AAC02898.1. AB009284 mRNA. Translation: BAA24081.1. | |
| IPI | IPI00002732. |
| PIR | JC5935. |
| RefSeq | NP_001028197.1. NP_001430.1. |
| UniGene | Hs.357637 |
3D structure databases | |
| HSSP | HSSP built from PDB template 1ON8 based on UniProtKB Q9ES89. |
| SMR | Q9UBQ6. Positions 63-327. |
| ModBase | Search... |
Protein family/group databases | |
| CAZy | GT64. Glycosyltransferase Family 64. |
Proteomic databases | |
| PRIDE | Q9UBQ6. |
Genome annotation databases | |
| Ensembl | ENSG00000162694. Homo sapiens. [Contig view] |
| GeneID | 2135. |
| KEGG | hsa:2135. |
| UCSC | uc001dtk.1. human. |
Organism-specific databases | |
| GeneCards | GC01M101049. |
| H-InvDB | HIX0000818. |
| HGNC | HGNC:3516. EXTL2. |
| MIM | 602411. gene. |
| PharmGKB | PA27928. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q9UBQ6. |
| HOVERGEN | Q9UBQ6. |
| OMA | Q9UBQ6. HICKLPG. |
Enzyme and pathway databases | |
| BRENDA | 2.4.1.223. 247. |
Gene expression databases | |
| ArrayExpress | Q9UBQ6. |
| Bgee | Q9UBQ6. |
| CleanEx | HS_EXTL2. |
| GermOnline | ENSG00000162694. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR015338. HexNAc_Trfase_a. [Graphical view] |
| Pfam | PF09258. Glyco_transf_64. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 8627. |
| SOURCE | Search... |
Entry information
| Entry name | EXTL2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UBQ6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| 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 |

Clusters with


