InnateDB Protein
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IDBP-33536.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EXT1
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Protein Name
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exostosin 1
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Synonyms
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EXT; LGCR; LGS; TRPS2; TTV;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000367446
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InnateDB Gene
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IDBG-33534 (EXT1)
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Protein Structure
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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. {ECO:0000269PubMed:11518722}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Golgi apparatus membrane {ECO:0000269PubMed:10679296}; Single-pass type II membrane protein {ECO:0000269PubMed:10679296}. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus.
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Disease Associations |
Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. {ECO:0000269PubMed:10441575, ECO:0000269PubMed:10480354, ECO:0000269PubMed:11169766, ECO:0000269PubMed:8981950, ECO:0000269PubMed:9326317, ECO:0000269PubMed:9463333, ECO:0000269PubMed:9521425, ECO:0000269Ref.9}. Note=The disease is caused by mutations affecting the gene represented in this entry.Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino- phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow- growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
5
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0008375
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acetylglucosaminyltransferase activity
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GO:0015020
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glucuronosyltransferase activity
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GO:0016757
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transferase activity, transferring glycosyl groups
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GO:0016758
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transferase activity, transferring hexosyl groups
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GO:0042328
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heparan sulfate N-acetylglucosaminyltransferase activity
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GO:0042803
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protein homodimerization activity
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GO:0046982
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protein heterodimerization activity
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GO:0050508
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glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
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GO:0050509
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N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004263
Exostosin-like
IPR015338
EXTL2, alpha-1,4-N-acetylhexosaminyltransferase
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF03016
PF09258
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q16394
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PhosphoSite |
PhosphoSite-Q16394
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TrEMBL |
V5QSK8
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UniProt Splice Variant |
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Entrez Gene |
2131
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UniGene |
Hs.613910
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RefSeq |
NP_000118
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HUGO |
HGNC:3512
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OMIM |
608177
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CCDS |
CCDS6324
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HPRD |
00598
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IMGT |
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EMBL |
AK313129
BC001174
CH471060
HM117252
KF037951
KF158988
KF597062
S79639
U70539
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GenPept |
AAB62283
AAC51154
AAH01174
ADI56520
AGT15863
AGV77097
AHB20150
BAG35949
EAW91972
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