Conserved Protein Domain Family
Exostosin

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pfam03016: Exostosin 
Exostosin family
The EXT family is a family of tumor 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.
Statistics
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PSSM-Id: 397245
Aligned: 31 rows
Threshold Bit Score: 120.994
Threshold Setting Gi: 20141309
Created: 11-May-2020
Updated: 7-Aug-2020
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
Q9FWQ3        31 PCAGRRIHI---RrLPPRFNAHLLRHCDAGfpladpstpatssppceslvnhglgprthsssRSWYRTDTRLLEVFFHRR 107 Japanese rice
Q2HVN7       155 MNRSFKIYVyphK-KDDPFANVLLPVKTEP--------------------------------SGNYASESYFKKALMKSH 201 barrel medic
O65522       263 MEKKLKVYVyreG-KRPVLHKPVLK--------------------------------------GIYASEGWFMKQLKSSR 303 thale cress
Q6K621         1 MERRFKIWTyreG-EPPVAHIGp--------------------------------------gTDIYSIEGQFMYEMDDPR 41  Japanese rice
Q6Z4E6        36 ALVALVILVv--S-MDPRAQAS----------------------------------------------SWFFLSS----- 61  Japanese rice
O01704        41 cSTSKKVYIh--P-MEKRFEES-----------------------------------------PQSVIYSKILKHFLESN 76  Caenorhabditis ...
AAI65657     105 QRNGFKVYVypqQ-KGEKISES----------------------------------------------YQNILSTIEGSR 137 zebrafish
XP_015330344 119 PKNKIKVYIy---pLKKYVGEAGVPVSSTI-----------------------------------SREYNELLTAISDSD 160 cattle
Q0IFF4       100 QQERISIYVy---pLKEYVDGDTRKQAFQL-----------------------------------TKEFYTILKTIVNSP 141 yellow fever mo...
O43909       190 LTSGFPVYVydsD----------------------------------------------------QFVFGSYLDPLVKQA 217 human
Q9FWQ3       108 VAer---gCLVADPALADAVYLPY-YAGLDSLPYVLDPALLDss-aqHGAELAEFLARDrPQiLARRHGHDH-FLVLAGS 181 Japanese rice
Q2HVN7       202 --------FITKDPTKADLFFMPFsIASLRHDRRVGVGGIQD-----FIRDYVQNMIHKyPY-WNRTNGADH-FYVACHS 266 barrel medic
O65522       304 T-------FVTKDPRKAHLFYLPF-SSKMLEETLYVPGSHSDknliqFLKNYLDMISSKySF-WNKTGGSDH-FLVACHD 373 thale cress
Q6K621        42 SR------FAARRPDDAHAFLLPIsVCNLVHYVYRLNATGDLaplrgLVADYVRVVAERyPY-WNRSRGADH-VIVSCHD 113 Japanese rice
Q6Z4E6        62 --------SSSSSSSSSSTLVRPA-ASSHAASL----------------RKPSSWGGGN-----GGGGGGEH-LLVTSSS 110 Japanese rice
O01704        77 --------HYTNDPNEA-CIFLLG-IDTTDRDVRSQN----------YVKNVNDYIESLdPSvWN--NGRNHlIFNFYHG 134 Caenorhabditis ...
AAI65657     138 --------FYTSDPGQA-CVFVLS-LDTLDRDQ----LSP-------QYVHNLKTKVQSlAL-WN--NGRNHlIFNLYSG 193 zebrafish
XP_015330344 161 --------YYTDDVTRA-CLFVPS-IDLLNQNS--------------LRVKETAQALAQlSR-WDR--GTNH-LLFNMLP 212 cattle
Q0IFF4       142 --------YYTANPNEA-CLFVPT-LDTLNQNR--------------IDVNLVGKALASlPY-W--ENGENH-ILFNFIA 193 yellow fever mo...
O43909       218 FQataranVYVTENADIACLYVIL-VGEMQEPVv-------------LRPAELEKQLYSlPH-W-RTDGHNHvIINLSRK 281 human
Q9FWQ3       182 AWDYSQpvraaaaaaAEARLWGTTSLLrlpalgnLTFLTLESRAWPWQE-HAI-PHPTSFHPas-lpRLRAWLARARRAR 258 Japanese rice
Q2HVN7       267 IGRSAMd-------kAPDVKFNAIQVV-------CSSSYFLSGYIAHKD-ACLpQIWPRNEN----------PPNLVSSN 321 barrel medic
O65522       374 -WAPSE---------TRQYMAKCIRAL--------CNSDVSEGFVFGKD-VAL-PETTILVPr----RPLRALGGKPVSQ 429 thale cress
Q6K621       114 -WAPMVt-------sAHRQLYGNAIRV-------LCNANTSEGFRPRKD-ATL-PEVNLADG-----VLRRPTAGLPPEN 171 Japanese rice
Q6Z4E6       111 FGSGGG----------ARGSWSRNSTS-------KEVLFQGGGGGGGDEmTSTaAAPTPALI------IGSSSGDGVSPS 167 Japanese rice
O01704       135 TFPDYDd-------hNLNFDTGEAMIA--------RASSSENNFIKVFD-VSL-PLFHENHPyeikeSKSERNDDRIENQ 197 Caenorhabditis ...
AAI65657     194 TWPDYTe--------DLGFDIGQAMLA--------KASISTENFRPNFD-ISI-PLFSKEHPrt-ggDRGYLKYNTIPPF 254 zebrafish
XP_015330344 213 GGPPDYn-------tALDVPRDRALLA--------GGGFSTWTYRQGYD-VSI-PVYSPLSA------EVDLPEKGPGPR 269 cattle
Q0IFF4       194 GSAPDFn-------tVLDVNTDRAMIL--------GSGFDSWTFRPGFD-LPM-PMFSSILE--------HHQLNSMNTD 248 yellow fever mo...
O43909       282 SDTQNL---------LYNVSTGRAMVA--------QSTFYTVQYRPGFD-LVVsPLVHAMSE-----PNFMEIPPQVPVK 338 human
Q9FWQ3       259 RPALMLFSGG-----VSRPSRPNIRGS-------ILAECa------NRTDACVVVDCSG---GRCShdp----------- 306 Japanese rice
Q2HVN7       322 RKKLAFFAGEv---------NSPVRIN-------LVETWkn----dTEIFVHNGRLKTP--------------------- 360 barrel medic
O65522       430 RQILAFFAGGm---------HGYLRPL-------LLQNWgg----nRDPDMKIFSEIPK---SKGKk------------- 473 thale cress
Q6K621       172 RTTLAFFAGG---------RHGHIRES-------LLRHWlignkggAAADGDGDGDMRVheyLPAGe------------- 222 Japanese rice
Q6Z4E6       168 RVAVTAAAAEp---------TPALAPA-------PAPEWgv----gDAASGDDIIQVMP--------------------- 206 Japanese rice
O01704       198 RKYLVSFKGKryvygIGSGTRNLVHHLhngddivMVTTCkh----nNDWQVYQDDRCQRdndEYDRw------------- 260 Caenorhabditis ...
AAI65657     255 RKYMLVFKGKryltgIGSDTRNALYHVhnaedvvLLTTCkh----gKDWQKHKDARCDKdnaEYDKy------------- 317 zebrafish
XP_015330344 270 RYFLLSSQVAlhpeyREDLAALQARHGea---vlVLDKCsn----lSEGVPAARRRCHQ---QQAFd------------- 326 cattle
Q0IFF4       249 RKFLLISSQLni-fqRQYRIMQELTYDfpn-dilLLQRCp-----tTTDIRCNFPQGNEy-------------------- 301 yellow fever mo...
O43909       339 RKYLFTFQGE-----KIESLRSSLQEAr-----sFEEEMeg----dPPADYDDRIIATLkavQDSKldqvlveftcknqp 404 human
Q9FWQ3       307 --------------irYMRPMLHSRFCLQ-PPGDT----PTRR--STFDAILAGCVPVFFedaaarrQYGWHLPPe---R 362 Japanese rice
Q2HVN7       361 ----------------YGDELLGSKFCFH-VRGYE----VNTA--RIGDSLYYGCVPVII-------ANYYDLPFadvlN 410 barrel medic
O65522       474 ---------------sYMEYMKSSKYCIC-PKGHE----VNSP--RVVEALFYECVPVII-------SDNFVPPFfevlN 524 thale cress
Q6K621       223 ---------------dYHAQMAAARFCLC-PSGFE----VASP--RVVESVFAGCVPVII-------SEGYPPPFgdvlD 273 Japanese rice
Q6Z4E6       207 ----------------QAQRRRDVKLELL-ELGLA----KARA--TIREAIYLECVPVVI-------GDDYTLPFadvlN 256 Japanese rice
O01704       261 ---------------eYDELLANSTFCLV-PRGRR----LGSF--RFLETLRSGCVPVVI-------SDSWILPFsetiD 311 Caenorhabditis ...
AAI65657     318 ---------------dYREMLHNSTFCLV-PRGRR----LGSF--RFLEALQAACVPVML-------SNGWELPFseviD 368 zebrafish
XP_015330344 327 ----------------YPQVLQEATFCMV-LRGAR----LGQA--VLSDVLRAGCVPVII-------ADSYVLPFsevlD 376 cattle
Q0IFF4       302 ---------------eYPGVLENGQFCLI-ARGVR----LSQP--TLMDALAAGCIPVIM-------ADNLILPFsdilD 352 yellow fever mo...
O43909       405 kpslptewalcgeredRLELLKLSTFALIiTPGDPrlviSSGCatRLFEALEVGAVPVVL-------GEQVQLPYqdmlQ 477 human
Q9FWQ3       363 YDEFSVYIPKESvvfgGVKIAETL 386 Japanese rice
Q2HVN7       411 WKSFSVVVTTLDip-lLKKILKGI 433 barrel medic
O65522       525 WESFAVFVLEKDip-dLKNILVSI 547 thale cress
Q6K621       274 WGKMSVAVPAARip-eLRAILRRV 296 Japanese rice
Q6Z4E6       257 WAAFSVRVAVGDip-rLKEILAAV 279 Japanese rice
O01704       312 WNSAAIVVAERDal-sIPELLMST 334 Caenorhabditis elegans
AAI65657     369 WNTAAVIGDERLll-qIPSTVRSI 391 zebrafish
XP_015330344 377 WKRASVVVPEEKms-dVYSILQSI 399 cattle
Q0IFF4       353 WDLISIRIYENNlh-sVITTLKAV 375 yellow fever mosquito
O43909       478 WNEAALVVPKPRvt-eVHFLLRSL 500 human
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