Exostosin-like 2
Details
- Name
- Exostosin-like 2
- Synonyms
- 2.4.1.223
- Alpha-1,4-N-acetylhexosaminyltransferase EXTL2
- Alpha-GalNAcT EXTL2
- EXT-related protein 2
- EXTR2
- Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
- Gene Name
- EXTL2
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0013226|Exostosin-like 2 MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVKEDKMLMLRREIKSQGK STMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNIGEKAPDELWNSLGPHPIP VIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDLVFAFSVWQQFPDQIVGFVPR KHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFFNSKYLELFQRQPAAVHALIDDT QNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKETNSGYSGMWHRAEHALQRSYCINKL VNIYDSMPLRYSNIMISQFGFPYANYKRKI
- Number of residues
- 330
- Molecular Weight
- 37465.365
- Theoretical pI
- Not Available
- GO Classification
- Functionsalpha-1,4-N-acetylgalactosaminyltransferase activity / glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity / metal ion bindingProcessesglycosaminoglycan biosynthetic process / heparan sulfate proteoglycan biosynthetic process / N-acetylglucosamine metabolic process / UDP-N-acetylgalactosamine metabolic processComponentsendoplasmic reticulum / endoplasmic reticulum membrane / extracellular exosome / integral component of membrane
- General Function
- Metal ion binding
- Specific 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.
- Pfam Domain Function
- Glyco_transf_64 (PF09258)
- Transmembrane Regions
- 23-43
- Cellular Location
- Endoplasmic reticulum membrane
- Gene sequence
>lcl|BSEQ0013227|Exostosin-like 2 (EXTL2) ATGAGGTGTTGCCACATCTGCAAACTTCCTGGGAGAGTAATGGGGATTCGAGTGCTTCGA TTATCTTTGGTGGTCATCCTCGTATTATTACTGGTAGCTGGTGCTTTGACTGCCTTACTT CCCAGTGTTAAAGAAGACAAGATGCTCATGTTGCGTAGGGAAATAAAATCCCAGGGCAAG TCCACCATGGACTCCTTTACTCTCATAATGCAGACGTACAACAGAACAGATCTCTTATTG AAACTTTTAAATCATTATCAGGCTGTACCAAATCTGCACAAAGTGATTGTGGTATGGAAC AATATTGGAGAGAAGGCACCAGATGAATTATGGAATTCTCTAGGGCCCCACCCTATCCCT GTGATCTTCAAACAACAGACAGCAAACAGGATGAGAAATCGACTCCAGGTCTTTCCTGAA CTGGAAACCAATGCAGTGTTGATGGTAGATGATGACACACTCATCAGCACCCCAGACCTT GTTTTTGCTTTCTCAGTTTGGCAGCAATTTCCTGATCAAATTGTAGGATTTGTTCCTAGA AAGCACGTCTCTACTTCATCAGGTATCTACAGTTATGGAAGTTTTGAAATGCAAGCACCA GGGTCTGGAAATGGTGACCAGTACTCTATGGTGCTGATTGGAGCCTCATTCTTCAATAGC AAATATCTTGAATTATTTCAGAGGCAACCTGCAGCTGTCCATGCTTTGATAGATGATACT CAAAACTGTGATGATATTGCCATGAATTTTATCATTGCCAAGCATATTGGCAAGACTTCA GGGATATTTGTGAAGCCTGTAAACATGGACAATTTGGAAAAAGAAACCAACAGTGGCTAT TCTGGAATGTGGCATCGAGCTGAGCACGCTCTGCAGAGGTCTTATTGTATAAATAAGCTT GTTAATATCTATGATAGCATGCCCTTAAGATACTCCAACATTATGATTTCCCAGTTTGGT TTTCCATATGCCAACTACAAAAGAAAAATATAA
- Chromosome Location
- 1
- Locus
- Not Available
- External Identifiers
Resource Link UniProtKB ID Q9UBQ6 UniProtKB Entry Name EXTL2_HUMAN HGNC ID HGNC:3516 - General References
- Wuyts W, Van Hul W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Van Agtmael T, Bossuyt P, Willems PJ: Identification and characterization of a novel member of the EXT gene family, EXTL2. Eur J Hum Genet. 1997 Nov-Dec;5(6):382-9. [Article]
- Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem Biophys Res Commun. 1998 Feb 4;243(1):61-6. [Article]
- McCormick C, Duncan G, Goutsos KT, Tufaro F: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):668-73. [Article]
- Kitagawa H, Shimakawa H, Sugahara K: 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. J Biol Chem. 1999 May 14;274(20):13933-7. [Article]
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