Conserved Protein Domain Family
Exostosin

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pfam03016: Exostosin (this model, PSSM-Id:308581 is obsolete and has been replaced by 397245)
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: 308581
Aligned: 32 rows
Threshold Bit Score: 92.4923
Created: 17-Jul-2016
Updated: 4-Aug-2016
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:
Q2QVM7        87 SCDGRYVYVl--E-V--PRRFQ--MLTECVEGpkvfddpyhvcvvmsnsglgpvippaaagnatvdgdiipnTGWYNTDQ 159  Japanese rice
Q291L5       104 EHDRLKVYIy---pL--QEFVDekTDKVATTL-------------------------------------------SSEYF 135  Drosophila pse...
Q0VAW4        89 RGKVLKIFVh----S--PAGPTs-----------------------------------------------------eAQR 109  house mouse
O01704        37 cSTSKKVYIh---pM--EKRFEe-------------------------------------------------sPQSVIYS 62   Caenorhabditis...
O01705       175 ISSFMPVYV---DiI--TSGQSe-------------------------------------------------kEWLNVFQ 200  Caenorhabditis...
O43909       190 LTSGFPVYVydsD--------------------------------------------------------------QFVFG 207  human
Q17P41       198 LTSGFPVYLydpD-V--SSVVNs---------------------------------------------------rYDVDG 223  yellow fever m...
XP_001276893  52 KMPPLKIYLy--N-LslPYQIKiaHHQYVQAI----------------------------------------PG-NLAHT 87   Trichomonas va...
Q5IGR7       105 QRNGFKVYVypqQ-K--GEKISe------------------------------------------------------sYQ 127  zebrafish
O77783       100 PKNKIKVYIy---pL--KKYVGeaGVPVSSTI-------------------------------------------SREYN 131  cattle
Q2QVM7       160 YALEVIFHNRMrr---yeCLTSDMAAATAVYVAF-YPALELNRHKCGSSATErn----------ePPREFLRWLTSQ-PS 224  Japanese rice
Q291L5       136 QILEAVLKSR--------YYTSNPNEA-CLFLPS-LDLLSQNV----------------------FDKHLAGAALASlDF 183  Drosophila pse...
Q0VAW4       110 RILDSLEGSR--------YSALSPADA-CLLLFL-------------------------------PSQDRRGACGPLpPN 149  house mouse
O01704        63 KILKHFLESN--------HYTNDPNEA-CIFLLG-IDTTDRDVRSQN------------------YVKNVNDYIESLdPS 114  Caenorhabditis...
O01705       201 EVIP--------------NLVETPDKA-CIKIHI-SNGIASPNTTFNSI------------------------------- 233  Caenorhabditis...
O43909       208 SYLDPLVKQAFqataranVYVTENADIACLYVIL-VGEMQEPVv---------------------LRPAELEKQLYSlPH 265  human
Q17P41       224 FLKTTIKQTLGyn----aHLTDDPKKA-CIFLVLvGEALPEQETIRNNRYGVtnlengeqpggssLNVTKLKLL----PF 294  yellow fever m...
XP_001276893  88 TVFEYIVPKTIey---ykHRVYDPEDADLFYVPL-YGAIFNQHREIG----D-------------IDKIILPQLREAgPY 146  Trichomonas va...
Q5IGR7       128 NILSTIEGSR--------FYTSDPGQA-CVFVLS-LDTLDRDQ----LSP---------------QYVHNLKTKVQSlAL 178  zebrafish
O77783       132 ELLTAISDSD--------YYTDDVTRA-CLFVPS-IDLLNQNS----------------------LRVKETAQALAQlSR 179  cattle
Q2QVM7       225 -WAALGGRDH-FMVAARTTWMFRRggA-GDSLGCGNGFLSrpesgNMTVLTYESNIWERRD-FAV-PYPSYFHPssarEV 299  Japanese rice
Q291L5       184 -WER--GDNH-IIFNMLPGSAPAYn-S-VLDVNTDNAIIF-------GGGFDTWTYRPGFD-VAI-PVWSPRVG------ 242  Drosophila pse...
Q0VAW4       150 -WN--GGRNH-LVLSLYPAPCTRL----------GQAMVA-------EASPSSDIFRPGFD-IAL-PYLPEAHPlrggAP 206  house mouse
O01704       115 vWN--NGRNHlIFNFYHGTFPDYDd-H-NLNFDTGEAMIA-------RASSSENNFIKVFD-VSL-PLFHENHPyeikES 181  Caenorhabditis...
O01705       234 -----------LFNVGSPIINFQS-----KSIHVQASKIR-------SFDFPVDVNHIAVEkVDLtPLLPFQRE------ 284  Caenorhabditis...
O43909       266 -W-RTDGHNHvIINLSRKSDTQNL----LYNVSTGRAMVA-------QSTFYTVQYRPGFD-LVVsPLVHAMSE----PN 327  human
Q17P41       295 -WG-GDGRNHiLLNFARRDLSIGTgnI-FRNADTGRAMLV-------QSSFEDGQYRKGFD-LIVpPILGPPGG----DV 359  yellow fever m...
XP_001276893 147 -FDRSDGIDHaWTQMLFSHNNIPI--TpYHQHHLPSMITLg----DLDYNYTVTNSRESLRnSNF-PLTSNIN------- 211  Trichomonas va...
Q5IGR7       179 -WN--NGRNHlIFNLYSGTWPDYT--E-DLGFDIGQAMLA-------KASISTENFRPNFD-ISI-PLFSKEHPrtggDR 243  zebrafish
O77783       180 -WDR--GTNH-LLFNMLPGGPPDYn-T-ALDVPRDRALLA-------GGGFSTWTYRQGYD-VSI-PVYSPLSA-----E 239  cattle
Q2QVM7       300 SAWQATAR-AARRPWLFAFAGA-----R----RANGTLAIRDH-------IIDECt-----ASPPGRCGMLDCSHgleGS 357  Japanese rice
Q291L5       243 --HQHPHA-AAQRKFLLVVAQLnv-lpR----FLRTLRDLSSAhae-qllLLGPCn----gMDLSTRCSFSQHRKlm--- 306  Drosophila pse...
Q0VAW4       207 GKLQQHSP-QPGATLLAVAEEKg----R----WRITSTHASAC-------LWDRH---------CEQDPGPQQTY----- 256  house mouse
O01704       182 KSERNDDRiENQRKYLVSFKGKryvygI----GSGTRNLVHHLhngddivMVTTCk----hNNDWQVYQDDRCQRdndEY 253  Caenorhabditis...
O01705       285 -NLISLIV-DNTELNFSAFSSLs------------AEPSRRPI-------VIVKC--------SQENCSLER-------- 327  Caenorhabditis...
O43909       328 FMEIPPQV-PVKRKYLFTFQGE-----K----IESLRSSLQEAr-----sFEEEMe----gDPPADYDDRIIATLkavQD 388  human
Q17P41       360 WQECSAML-PARRKYLLSFQGEmn--vQ----NQSNLHHVDDEaetvddfILEHLkemssgHTQDKFLLQFECIPateQR 432  yellow fever m...
XP_001276893 212 -QVDIIDS-DNTRPITAFFIGQ-----IelsgFDEQATPIRRG-------MAEEMh----rIPHAVIINAKRYDPih--- 270  Trichomonas va...
Q5IGR7       244 GYLKYNTI-PPFRKYMLVFKGKryltgI----GSDTRNALYHVhnaedvvLLTTCk----hGKDWQKHKDARCDKdnaEY 314  zebrafish
O77783       240 VDLPEKGP-GPRRYFLLSSQVAlhpeyR----EDLAALQARHGea---vlVLDKCs----nLSEGVPAARRRCHQ---QQ 304  cattle
Q2QVM7       358 ITcrs------------------------prrL----VALFASARFCLQ--PPGDS----FMRR--SSIDTVLAGCIPVF 401  Japanese rice
Q291L5       307 -------------------------------eY----PRLLSHGKFCFV--GRSLR----LGQP--DLVEIMSESCIPVI 343  Drosophila pse...
Q0VAW4       257 --------------------------------P----GETLPNATFCLI--PGHRS----ATSC---FLQALQAGCIPVL 291  house mouse
O01704       254 DRw----------------------------eY----DELLANSTFCLV--PRGRR----LGSF--RFLETLRSGCVPVV 293  Caenorhabditis...
O01705       328 --------------------------------R----RQLIGSSTFCFL--LPSEM----FFQ---DFLSSLQLGCIPII 362  Caenorhabditis...
O43909       389 SKldqvlveftcknqpkpslptewalcgeredR----LELLKLSTFALIi-TPGDPrlviSSGCatRLFEALEVGAVPVV 463  human
Q17P41       433 DPstvrdws----------------lcgtdnsR----KSVLKEATFTLLmaPGGNSisstLLQA--RLYEALRAGAIPVI 490  yellow fever m...
XP_001276893 271 ------------------------------svYnynfSRMMLSSEYCIV--PHGDG----PTTK--RLFDTFRTLCIPIV 312  Trichomonas va...
Q5IGR7       315 DKy----------------------------dY----REMLHNSTFCLV--PRGRR----LGSF--RFLEALQAACVPVM 354  zebrafish
O77783       305 AFd-----------------------------Y----PQVLQEATFCMV--LRGAR----LGQA--VLSDVLRAGCVPVI 343  cattle
Q2QVM7       402 FheastfkkQYQWHERDAdadndnatvDRRRYSVVIDPDDVVEgRVRIEEVL 453  Japanese rice
Q291L5       344 A--------IDNYVLPFEdv------iDWSLASVRIREFELHS-IMQKLKAI 380  Drosophila pseudoobscura
Q0VAW4       292 L--------SPRWELPFSev------iDWTKAAIIADERLPLQ-VLAALREM 328  house mouse
O01704       294 I--------SDSWILPFSet------iDWNSAAIVVAERDALS-IPELLMST 330  Caenorhabditis elegans
O01705       363 L--------SNSQLLPFQdl------iDWRRATYRLPLARLPE-AHFIVQSF 399  Caenorhabditis elegans
O43909       464 L--------GEQVQLPYQdm------lQWNEAALVVPKPRVTE-VHFLLRSL 500  human
Q17P41       491 Lg-------GDQIELPYAet------iEWRRAAVSLPKARITE-LHFLLRAI 528  yellow fever mosquito
XP_001276893 313 L--------SDQIRFPFEnl-----fiDYSKVVIQIPAFHPED-IGvamslp 350  Trichomonas vaginalis G3
Q5IGR7       355 L--------SNGWELPFSev------iDWNTAAVIGDERLLLQ-IPSTVRSI 391  zebrafish
O77783       344 I--------ADSYVLPFSev------lDWKRASVVVPEEKMSD-VYSILQSI 380  cattle
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