Identification |
HMDB Protein ID
| CDBP01550 |
Secondary Accession Numbers
| Not Available |
Name
| Exostosin-1 |
Description
| Not Available |
Synonyms
|
- Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
- Multiple exostoses protein 1
- Putative tumor suppressor protein EXT1
|
Gene Name
| EXT1 |
Protein Type
| Enzyme |
Biological Properties |
General Function
| Involved in transferase activity, transferring hexosyl groups |
Specific Function
| Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor.
|
GO Classification
|
Biological Process |
skeletal system development |
axon guidance |
embryonic skeletal joint development |
endoderm development |
mesoderm development |
olfactory bulb development |
ossification |
gastrulation |
signal transduction |
glycosaminoglycan biosynthetic process |
protein glycosylation |
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process |
Cellular Component |
integral to endoplasmic reticulum membrane |
Golgi membrane |
Component |
membrane |
cell part |
membrane part |
intrinsic to membrane |
intrinsic to organelle membrane |
intrinsic to endoplasmic reticulum membrane |
Function |
transferase activity |
transferase activity, transferring hexosyl groups |
transferase activity, transferring glycosyl groups |
catalytic activity |
Molecular Function |
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity |
heparan sulfate N-acetylglucosaminyltransferase activity |
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity |
protein homodimerization activity |
|
Cellular Location
|
- Golgi apparatus membrane
- Endoplasmic reticulum membrane
- Single-pass type II membrane protein
- Single-pass type II membrane protein
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | protein glycosylation | Not Available | Not Available | Glycosaminoglycan biosynthesis - heparan sulfate / heparin | Not Available |  |
|
Gene Properties |
Chromosome Location
| 8 |
Locus
| 8q24.11 |
SNPs
| EXT1 |
Gene Sequence
|
>2241 bp
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTG
TTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGCCGGAGAGAAGAACAC
AGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAG
CCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATT
TCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATG
GAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACT
TTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGG
CCTGACTACACCGAGGACGTGGGGTTTGACATCGGCCAGGCGATGCTGGCCAAAGCCAGC
ATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGG
AAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAG
AAGTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGC
AGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTC
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATA
GGCGATGAGAGATTGTTATTACAGATTCCTTCTACAATCAGGTCTATTCATCAGGATAAA
ATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG
AAGATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGT
AACAGTTTAATATGGAACAAACATCCTGGAGGATTGTTCGTACTACCACAGTATTCATCT
TATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTC
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTT
CTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCCCAGATCATAGTTCTATGGAATTGTGAC
AAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA
GGAGAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCC
GTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTGGATTTCGCCTTCACA
GTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTG
ACAGGAGCTGCTATTTACCACAAATATTATCACTACCTATACTCCCATTACCTGCCAGCC
AGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG
GTGTCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAG
ACAATGATGGGACAGACTTCTCGGGCTTCCCGTTGGGCTGACCCTGACCACTTTGCCCAG
CGACAGAGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCACTCT
CAGATGAGGCTCGACCCCGTCCTCTTTAAAGACCAGGTCTCTATTTTGAGGAAGAAATAC
CGAGACATTGAGCGACTTTGA
|
Protein Properties |
Number of Residues
| 746 |
Molecular Weight
| 86254.015 |
Theoretical pI
| 9.036 |
Pfam Domain Function
|
|
Signals
|
Not Available
|
Transmembrane Regions
|
Not Available
|
Protein Sequence
|
>Exostosin-1
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL
|
External Links |
GenBank ID Protein
| 1168162 |
UniProtKB/Swiss-Prot ID
| Q16394 |
UniProtKB/Swiss-Prot Entry Name
| EXT1_HUMAN |
PDB IDs
|
Not Available |
GenBank Gene ID
| S79639 |
GeneCard ID
| EXT1 |
GenAtlas ID
| EXT1 |
HGNC ID
| HGNC:3512 |
References |
General References
| Not Available |