NCBI Home Page NCBI Site Search page NCBI Guide that lists and describes the NCBI resources
Conserved domains on  [gi|1953526485|ref|NP_001376557|]
View 

exostosin-2 isoform 2 [Homo sapiens]

Protein Classification

exostosin( domain architecture ID 10503393)

exostosin is a family 47 glycosyltransferase that is required for the biosynthesis of heparan-sulfate

Graphical summary

 Zoom to residue level

show extra options »

Show site features     Horizontal zoom: ×

List of domain hits

Name Accession Description Interval E-value
Glyco_transf_64 pfam09258
Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction ...
456-697 3.15e-124

Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction of N-acetylglucosamine and N-acetylgalactosamine from the respective UDP-sugars to the non-reducing end of [glucuronic acid]beta 1-3[galactose]beta 1-O-naphthalenemethanol, an acceptor substrate analog of the natural common linker of various glycosylaminoglycans. They are also required for the biosynthesis of heparan-sulphate.


:

Pssm-ID: 430488  Cd Length: 241  Bit Score: 369.70  E-value: 3.15e-124
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 456 FTAIVLT-YDRVESLFRVITEVSKVPSLSKLLVVWNNqNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAV 534
Cdd:pfam09258   1 FTAVINTyYSRIDLLLKLLQRYAGSPHLAKIIVLWNN-PKPPPELSRWPGTGVPVTVIRQKRNSLNNRFLPYPEIETDAV 79
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 535 LAIDDDIiMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPG 614
Cdd:pfam09258  80 LSLDDDI-LLSTDEIDFAFRVWRSFPDRIVGFPPRSHFWDLSSGRWGYTSEWTNEYSMVLTGAAFYHRYYLYLYTHSLPK 158
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 615 DIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEH 694
Cdd:pfam09258 159 SLRTLVDETQNCEDILMNFLVANVTRKPPVKVTQRKQFKEGKNSGKVGLSSRPGHFLQRSKCINKFAAVFGYMPLVYSQI 238

                  ...
gi 1953526485 695 RAD 697
Cdd:pfam09258 239 RLD 241
Exostosin pfam03016
Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on ...
100-380 8.12e-59

Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on 8q24.1, EXT2 on 11p11-13, and EXT3 on 19p have been associated with the autosomal dominant disorder known as hereditary multiple exostoses (HME). This is the most common known skeletal dysplasia. The chromosomal locations of other EXT genes suggest association with other forms of neoplasia. EXT1 and EXT2 have both been shown to encode a heparan sulphate polymerase with both D-glucuronyl (GlcA) and N-acetyl-D-glucosaminoglycan (GlcNAC) transferase activities. The nature of the defect in heparan sulphate biosynthesis in HME is unclear.


:

Pssm-ID: 397245  Cd Length: 290  Bit Score: 200.73  E-value: 8.12e-59
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 100 PKNKIKVYIYALKKYVDD---FGVSVSNTISREYNELLMAISDS--DYYTDDINRA-CLFVPSIDVLNQNTLRIKETAQA 173
Cdd:pfam03016   1 SCKGLKVYVYDLPPRFNEdllQPCRSLTGWYSAEQFLLESILHSriECRTSDPDEAdCFFVPFYASLDASRHLLNSALTD 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 174 M---------AQLSRWDR--GTNHLLFNMLPGGPPdYNTALDVPRDRALLA--GGGFSTWTYRQGYDVSIPVYSPLSAEV 240
Cdd:pfam03016  81 LfrelldwlkSQYPYWNRsgGRDHFIVSGHPAWSF-RRTAPDVDWGRAMLLnlTVLFSEDQFRPGKDVALPYPTPFHPDI 159
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 241 -DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALqvkhgesvlVLDKCTNLSEGVLSVRKRCHKhQVFDYPQVLQEATFCV 319
Cdd:pfam03016 160 gQWQDISPSNRRKTLLFFAGNRRRGYSGKIRPL---------LLEECKGNPDADICGGLQCTP-GRDKYMELLRSSRFCL 229
                         250       260       270       280       290       300
                  ....*....|....*....|....*....|....*....|....*....|....*....|.
gi 1953526485 320 VLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSI 380
Cdd:pfam03016 230 QPPGDTPTSPRLFDALLAGCIPVIISDGWELPFADVIDWRKFSVFVPENDIPELKSILRSL 290
 
Name Accession Description Interval E-value
Glyco_transf_64 pfam09258
Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction ...
456-697 3.15e-124

Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction of N-acetylglucosamine and N-acetylgalactosamine from the respective UDP-sugars to the non-reducing end of [glucuronic acid]beta 1-3[galactose]beta 1-O-naphthalenemethanol, an acceptor substrate analog of the natural common linker of various glycosylaminoglycans. They are also required for the biosynthesis of heparan-sulphate.


Pssm-ID: 430488  Cd Length: 241  Bit Score: 369.70  E-value: 3.15e-124
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 456 FTAIVLT-YDRVESLFRVITEVSKVPSLSKLLVVWNNqNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAV 534
Cdd:pfam09258   1 FTAVINTyYSRIDLLLKLLQRYAGSPHLAKIIVLWNN-PKPPPELSRWPGTGVPVTVIRQKRNSLNNRFLPYPEIETDAV 79
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 535 LAIDDDIiMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPG 614
Cdd:pfam09258  80 LSLDDDI-LLSTDEIDFAFRVWRSFPDRIVGFPPRSHFWDLSSGRWGYTSEWTNEYSMVLTGAAFYHRYYLYLYTHSLPK 158
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 615 DIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEH 694
Cdd:pfam09258 159 SLRTLVDETQNCEDILMNFLVANVTRKPPVKVTQRKQFKEGKNSGKVGLSSRPGHFLQRSKCINKFAAVFGYMPLVYSQI 238

                  ...
gi 1953526485 695 RAD 697
Cdd:pfam09258 239 RLD 241
Exostosin pfam03016
Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on ...
100-380 8.12e-59

Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on 8q24.1, EXT2 on 11p11-13, and EXT3 on 19p have been associated with the autosomal dominant disorder known as hereditary multiple exostoses (HME). This is the most common known skeletal dysplasia. The chromosomal locations of other EXT genes suggest association with other forms of neoplasia. EXT1 and EXT2 have both been shown to encode a heparan sulphate polymerase with both D-glucuronyl (GlcA) and N-acetyl-D-glucosaminoglycan (GlcNAC) transferase activities. The nature of the defect in heparan sulphate biosynthesis in HME is unclear.


Pssm-ID: 397245  Cd Length: 290  Bit Score: 200.73  E-value: 8.12e-59
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 100 PKNKIKVYIYALKKYVDD---FGVSVSNTISREYNELLMAISDS--DYYTDDINRA-CLFVPSIDVLNQNTLRIKETAQA 173
Cdd:pfam03016   1 SCKGLKVYVYDLPPRFNEdllQPCRSLTGWYSAEQFLLESILHSriECRTSDPDEAdCFFVPFYASLDASRHLLNSALTD 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 174 M---------AQLSRWDR--GTNHLLFNMLPGGPPdYNTALDVPRDRALLA--GGGFSTWTYRQGYDVSIPVYSPLSAEV 240
Cdd:pfam03016  81 LfrelldwlkSQYPYWNRsgGRDHFIVSGHPAWSF-RRTAPDVDWGRAMLLnlTVLFSEDQFRPGKDVALPYPTPFHPDI 159
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 241 -DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALqvkhgesvlVLDKCTNLSEGVLSVRKRCHKhQVFDYPQVLQEATFCV 319
Cdd:pfam03016 160 gQWQDISPSNRRKTLLFFAGNRRRGYSGKIRPL---------LLEECKGNPDADICGGLQCTP-GRDKYMELLRSSRFCL 229
                         250       260       270       280       290       300
                  ....*....|....*....|....*....|....*....|....*....|....*....|.
gi 1953526485 320 VLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSI 380
Cdd:pfam03016 230 QPPGDTPTSPRLFDALLAGCIPVIISDGWELPFADVIDWRKFSVFVPENDIPELKSILRSL 290
 
Name Accession Description Interval E-value
Glyco_transf_64 pfam09258
Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction ...
456-697 3.15e-124

Glycosyl transferase family 64 domain; Members of this family catalyze the transfer reaction of N-acetylglucosamine and N-acetylgalactosamine from the respective UDP-sugars to the non-reducing end of [glucuronic acid]beta 1-3[galactose]beta 1-O-naphthalenemethanol, an acceptor substrate analog of the natural common linker of various glycosylaminoglycans. They are also required for the biosynthesis of heparan-sulphate.


Pssm-ID: 430488  Cd Length: 241  Bit Score: 369.70  E-value: 3.15e-124
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 456 FTAIVLT-YDRVESLFRVITEVSKVPSLSKLLVVWNNqNKNPPEDSLWPKIRVPLKVVRTAENKLSNRFFPYDEIETEAV 534
Cdd:pfam09258   1 FTAVINTyYSRIDLLLKLLQRYAGSPHLAKIIVLWNN-PKPPPELSRWPGTGVPVTVIRQKRNSLNNRFLPYPEIETDAV 79
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 535 LAIDDDIiMLTSDELQFGYEVWREFPDRLVGYPGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPG 614
Cdd:pfam09258  80 LSLDDDI-LLSTDEIDFAFRVWRSFPDRIVGFPPRSHFWDLSSGRWGYTSEWTNEYSMVLTGAAFYHRYYLYLYTHSLPK 158
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 615 DIKNWVDAHMNCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFASVFGTMPLKVVEH 694
Cdd:pfam09258 159 SLRTLVDETQNCEDILMNFLVANVTRKPPVKVTQRKQFKEGKNSGKVGLSSRPGHFLQRSKCINKFAAVFGYMPLVYSQI 238

                  ...
gi 1953526485 695 RAD 697
Cdd:pfam09258 239 RLD 241
Exostosin pfam03016
Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on ...
100-380 8.12e-59

Exostosin family; The EXT family is a family of tumour suppressor genes. Mutations of EXT1 on 8q24.1, EXT2 on 11p11-13, and EXT3 on 19p have been associated with the autosomal dominant disorder known as hereditary multiple exostoses (HME). This is the most common known skeletal dysplasia. The chromosomal locations of other EXT genes suggest association with other forms of neoplasia. EXT1 and EXT2 have both been shown to encode a heparan sulphate polymerase with both D-glucuronyl (GlcA) and N-acetyl-D-glucosaminoglycan (GlcNAC) transferase activities. The nature of the defect in heparan sulphate biosynthesis in HME is unclear.


Pssm-ID: 397245  Cd Length: 290  Bit Score: 200.73  E-value: 8.12e-59
                          10        20        30        40        50        60        70        80
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 100 PKNKIKVYIYALKKYVDD---FGVSVSNTISREYNELLMAISDS--DYYTDDINRA-CLFVPSIDVLNQNTLRIKETAQA 173
Cdd:pfam03016   1 SCKGLKVYVYDLPPRFNEdllQPCRSLTGWYSAEQFLLESILHSriECRTSDPDEAdCFFVPFYASLDASRHLLNSALTD 80
                          90       100       110       120       130       140       150       160
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 174 M---------AQLSRWDR--GTNHLLFNMLPGGPPdYNTALDVPRDRALLA--GGGFSTWTYRQGYDVSIPVYSPLSAEV 240
Cdd:pfam03016  81 LfrelldwlkSQYPYWNRsgGRDHFIVSGHPAWSF-RRTAPDVDWGRAMLLnlTVLFSEDQFRPGKDVALPYPTPFHPDI 159
                         170       180       190       200       210       220       230       240
                  ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 1953526485 241 -DLPEKGPGPRQYFLLSSQVGLHPEYREDLEALqvkhgesvlVLDKCTNLSEGVLSVRKRCHKhQVFDYPQVLQEATFCV 319
Cdd:pfam03016 160 gQWQDISPSNRRKTLLFFAGNRRRGYSGKIRPL---------LLEECKGNPDADICGGLQCTP-GRDKYMELLRSSRFCL 229
                         250       260       270       280       290       300
                  ....*....|....*....|....*....|....*....|....*....|....*....|.
gi 1953526485 320 VLRGARLGQAVLSDVLQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQSI 380
Cdd:pfam03016 230 QPPGDTPTSPRLFDALLAGCIPVIISDGWELPFADVIDWRKFSVFVPENDIPELKSILRSL 290
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
Help | Disclaimer | Write to the Help Desk
NCBI | NLM | NIH