Conserved Protein Domain Family
HPS3_N

?
pfam14761: HPS3_N (This model is not part of the current CDD release)
Hermansky-Pudlak syndrome 3 protein, N-terminal
This domain is at the N-terminus of these vertebrate proteins. This region carries the clathrin-binding motif LLDFE at residues 172-176 in human BLOC-2 complex member HPS3. Mutations in the gene that encode this protein causes Hermansky-Pudlak syndrome 3 (HPS3), a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis due to the absence of platelet dense granules and lysosomal storage defects.
Statistics
?
PSSM-Id: 521424
Aligned: 7 rows
Threshold Bit Score: 743.145
Created: 16-Feb-2025
Updated: 28-Apr-2025
Structure
?
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
?
Format: Row Display: Color Bits: Type Selection:
XP_002937376    2 RLYNCHPFGSQRIVPTMQAPDLFCCGR-DSVFVtsAGGCK-VEVFTVCQ---DLCQRLCSFSTLGKVLHMAYNDVGDYLV 76  
XP_007502120    3 QLYNLHPFGSQQVVRCQQEPERVCCGGqDALFV--AAGCK-VEAFSVEArapEPCRPRCCFSTLGRVLRLSYSEPGDYLV 79  
NP_001101134    3 RLYNLHPFGSQQVVPCQREPEQFCCGGsDALFV--ASGCK-VEAFAVQGa--ELSRQRCTFSTLGRVLRMAYSEAGDYLV 77  
1_pfamImport    1 HVYNCHPFASQQIVPTEQEPGLVCCGG-DALFVvsGGGCK-IEAFQVRE---EGCTLICRFSAMGKVQTIAYCETGDYLV 75  
4_pfamImport    1 HVYNCHPFSSQQIVQVEQEPGLVCCGG-GALFVvaSGGCKvVEAYSVEE---EGCPLICRFATMGAVRSIKHSKIGDYLV 76  
XP_006007914    3 QLYNCHPFASQQIVQMKHEPDIFCCGG-DALFVvcAGGCN-IDVFALVE---EGSEFLCSFATVSRVQYLTYSEIGDYLV 77   coelacanth
XP_005247891    3 QLYNLHPFGSQQVVPCKLEPDRFCGGGrDALFV--AAGCK-VEAFAVAGq--ELCQPRCAFSTLGRVLRLAYSEAGDYLV 77   human
XP_002937376   77 TIEEKNNISSLRAYVNWRCASNENPRVSVRMVGFKMKS-PHIGSSKDQMEIIEMPLSEPPLCIACCPLQGDLLVGCKSKL 155 
XP_007502120   80 TIEEKNKAIFLRAYVNWRSRTSENSRVCIRMVGHRVEG-CFREASKDQMSIIEIPLAEPPLCISCCPVKGDLLVGCLNKL 158 
NP_001101134   78 AIEEKNKTVFLRAYVNWRSKRNDNSRVCIRMVGHKMEA-SFCESFRDQMSIIEMPMSEAPLCISCCPVKGDLLVGCTKKL 156 
1_pfamImport   76 TIEEKNQATYLRAYTNWRHQAAERTRVGVRLLGHFLRGpSVRAAPREQMEIIEIPLREPPACVACCGATGGLLVGCADSA 155 
4_pfamImport   77 TTEEKNNATYLRAYTNWRYQAEEKARVGVRLLGHLLRGaSLRSGV--QTEIIEIPLSECPVAVACCPISGDLLVACEKTL 154 
XP_006007914   78 TIEEKNKVTSLYAYINWRCQALGKSRVSVRMVGHVIGG-TMKGTPKDQMEIVEMPLAQPPQCMACCPITGDLLVGYNSNL 156  coelacanth
XP_005247891   78 AIEEKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEG-PFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKL 156  human
XP_002937376  156 IIFHLKYISIQ--DSL-ILDFDCALILHITGICPVQASFCAGYIGIMSDLEVLVMKVVS----TLsETQLTTHQDMSEVE 228 
XP_007502120  159 VLFSLKWQAVN--EEFsMLDFERSLIIHMENILPAEISFCAGYVAVTTDLEVLILRLESevtiDP-SSPTKNTLARQAAK 235 
NP_001101134  157 VLFTLKYDVVN--EEFsMLNFERSLIIHINNITPVEISFCVGYVAVMADLEVLLLKLES----DPiHGEGVNHHPQESIN 230 
1_pfamImport  156 VVFGLRGQALG--EQRaVLDFERVLVLHTPGWTASRAALCGDHVALQRDLDVLVVRLRR-----------LRPRPDRALV 222 
4_pfamImport  155 VLFTLRNHTSSsaENVsILDFERSFLLHIPKFKPKQVALCSGYVAVQAEAEVLVLKLEA---------TPENKTPEESSS 225 
XP_006007914  157 VIFSLKQHIVD--HQAsILDFERFLILHL-NVSPRQVAFCAGYVAIITDLEAAVIKLES--------AEKNTCEPPIIFS 225  coelacanth
XP_005247891  157 VLFSLKYQIIN--EEFsLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLES----GPkNGERVHHHPHKTNN 230  human
XP_002937376  229 AFQ--EKD-NLSTSA------S-----QLpESCDFVICQRPMELISEECKMCGIGVSPEDC---------TQVCHLLY-- 283 
XP_007502120  236 AGE--KGD-AHSVPA------T-----QL-ESEDFVICQKPTELLGEVCRQSGPSVTLESTglndekasaSCVQPILY-- 298 
NP_001101134  231 PLE--QTE-DVSNET------S-----QL-ESEDFVICLKPLELFGEKCKQSGISVKLESTgledekvkyLHVQHLLY-- 293 
1_pfamImport  223 PADtaAGG-GADLGAeggptgG-----SLpDPEDFYLCPRNQELLGEEARECGVSVTLESTsleqesraeLGVTYVLYrn 296 
4_pfamImport  226 SSD--TPK-GLCRHRe-----D-----PLeEQADFLFIPRHLELLGDRAKDCGITVSIEKTgled--rgqYTLSYVLF-- 288 
XP_006007914  226 AKKv-QDK-GMDSQV------TqvamsQE-EQDGFVIFRQPVELLGTDASTSGLLITLESTgleneqsscLQVCHILY-- 294  coelacanth
XP_005247891  231 RIR--RTEeGISNEI------S-----QL-ESDDFVICQKPLELLGEKSEQSGLSVTLESTgladekrkySHFQHLLY-- 294  human
XP_002937376  284 RRFAPDFTEGIHVENTRLHSLQLLPMYK-TGiSFATDPKSATPQ---KEVLVMFCFFSMPHTGFLYSIGSTVKLLSLYQY 359 
XP_007502120  299 RCFTPDVSSYVFPDDTKLHSLQLLPIFQmAG-SVTADGKSSSQE---KELLSLFCFFSLPHIGYLYMAAKSVELMSVYQY 374 
NP_001101134  294 RRFAPDISFYGLSDNIKLHSLQLLPIHQ-TG--FHPDEKDLSQK---KEVPSLFCFFSLPHAGYLYMVVKSVTLLSVYWY 367 
1_pfamImport  297 RRFAPDFSEGCSVEDTRLHSLQLLPIF--AG----PSDQDVADEvkhREPTSVFCFFSLPNTGYLYSIESSVELVSTYLY 370 
4_pfamImport  289 RRLTPDFFQGCSVEETQLHSLQLRPLF--TS-SLSPGKQSVSEE----EPACIFCFFSLPTTGYLYSLRGGVELLSTYHY 361 
XP_006007914  295 RQFAPDYSQISSAEETSLHSLQLVPMYY-TG-NLVSDGQPKRNE---RKLLSLFCFFSLPHFGYLYNIKSTIELISTYQY 369  coelacanth
XP_005247891  295 RRFAPDISSYVLSDDIKLHSLQLLPIYQ-TG-SLTSDGKNLSQE---KELLSLFCFFSLPHVGYLYMVVKSVELMSVYQY 369  human
XP_002937376  360 PETSQQAVLTPQFLHVITRNNLQCFTVRCSAAAVREEDPYIDTTMKSCPPVSMDVCTLRMQLFIGLKAIAHFKNYLIILT 439 
XP_007502120  375 PEKSRQAVLTPQFLHVITSNNLQCFTVRCSAAAARDADPYVDTTLKACPPVSLDICALRMQLFIGLKAICHFKNHIILLT 454 
NP_001101134  368 PEKSQQAVLTPQFLHVITSQSLQCFTVRCSAAVAHEEDLYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLT 447 
1_pfamImport  371 PEKAQQAALTGLFLHVITRNALMCFSVRCGAVAARCLDPYIDTMLKSCPYTSRTRTEHRLSVFLS-RTVCHWDKRIFLAV 449 
4_pfamImport  362 PDKVLEAMLTDYLLHVITKSALQSFTVHCAAVAARMEDPYIDTTMKACPPSNLEVCALRSQVFIGLRSLSGFGRHVILLS 441 
XP_006007914  370 PDKSQQVVLSPQFLHVITRNSLQCFTVRCSAVAARDEDPYVDTTLKACPPVTMGVCALRIQLFIGLQALCHFKNHIILLT 449  coelacanth
XP_005247891  370 PEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLT 449  human
XP_002937376  440 KTNMEATEERRvSTSQRQRSKK--PVKNKTAQ 469 
XP_007502120  455 KAGSEDTPDRR-KSSKRLLSRKdvSAQLKAST 485 
NP_001101134  448 KAEPEDIPERR-ESPKRLLSRKdaSVKSRIPH 478 
1_pfamImport  450 GIEPSSSPGLEsLLSKAYLSKKlaAPRPKEPE 481 
4_pfamImport  442 TTDSDTPEEAE--RTRQRRSRKwaLSSPKEPS 471 
XP_006007914  450 KAD-----GREgGRGLRRKSSKmaAGK----Q 472  coelacanth
XP_005247891  450 KAEPEAIPERR-QSPKRLLSRKdtSVKIKIPP 480  human
| Disclaimer | Privacy statement | Accessibility |
NCBI Home NCBI Search NCBI SiteMap