Conserved Protein Domain Family
HPS3_C

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pfam14763: HPS3_C (This model is not part of the current CDD release)
Hermansky-Pudlak syndrome 3 protein, C-terminal region
This domain found in the HPS3 protein is composed a an alpha solenoid repeat. This region carries a number of tyrosine sorting motifs and the second of two di-leucine sorting boxes at residues 711-717 well as the ER membrane-retention signal KKPL at residues 1000-1003 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
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PSSM-Id: 521425
Aligned: 23 rows
Threshold Bit Score: 830.009
Created: 16-Feb-2025
Updated: 28-Apr-2025
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:
TDH08875      540 TLYQEMVEYSQRYAETNPqaQSLRHLLSEAHLLLRASLLQtpeqqgniegnpavslqtdtdgpAEKQTavQTGIQELEEA 619 
XP_028928299  508 QLYREMVDYSQTYKTGTT--QSCIHLLSEAHLLLRAALMD-----------------------PDLTD--SGEREKLLEA 560 
XP_007502120  503 QLYKEMVDYSKTYKNVRT--QSCIHLLSEAHLLVRAALMD-----------------------PCLTE--PGEKEELLEA 555 
NP_001139795  364 QLYKEMVDYSNSYKTVKT--ESCLHLLSEAHLLVRAALMD-----------------------GSQLE--PAEKAELLEA 416 
XP_007518124  498 QLYKEMVDYSNTYKTVKT--QSCIHLLSEAHLIVRAALMD-----------------------AAQLE--PGEKEELLGA 550 
XP_020637525  503 QLYREMVEYSKTYENVRT--ESCIHLLSEAHLLVRTALMD-----------------------PDLME--SEEKEDLLEA 555 
6_pfamImport    1 QLYKEMVEYSKTYENVGT--ESCIHLLSEAHLLVRAALMD-----------------------PSLME--SEEREKLLAA 53  
XP_006033013  438 QLYKEMVDYSRTYENSRT--ESCIHLLSEAHLLVRAALMD-----------------------PSLIE--SEEEEELLAS 490 
XP_033813685  499 QLYKEMVEYSRKYETIRT--QSSIHLLSEAHLLIRAALMD-----------------------PSLKE--SPEKEELLAA 551 
XP_002937376  487 QLYKEMVEYSKRYETAKT--QGSIHLLNEAHLLVRAALMD-----------------------PNLEE--SLAKTELVAA 539 
TDH08875      620 LRQNCAQLGDCFSRGSQKDCHLALPYYRMSGLSVTDIIARNHPLPS-SPHSYGPGFLFYLKHYLLEETEQILSQETADEV 698 
XP_028928299  561 FRDSCGHLGDCYSRLDSMHSHLALPYYKMSGLTMAEVLDRIDSTAEdGSQKYEKGFIFYINHSLFEDLDEELSEEKAAKV 640 
XP_007502120  556 FRESCGHLGDCYSRLDTQYSHLALPYYKMSGLSMTDVLTRIDSVLEdGSQNPERGLLFYINHSLYENVDEELSEELATKV 635 
NP_001139795  417 FKESCGHLGDCYSRLTTEQSHLALPYYKMSGLSLAEVLARVDWTEEsESQKYERGLVFYINHSLYENLDEELSKELAAKV 496 
XP_007518124  551 FKESCGHLGDCYSRLDTQYSHLALPYYKMSGLSVAEVLARVDWA---GSQKYEKGLLFYINHSLYENLDEELSEELAARV 627 
XP_020637525  556 FRESCALLGDCYSRFDTKDFHLALPYYKMSGLSMTEVLGRIDPALEdKTQKYEKGFIFYLHHSLYEDIGEDLSEELAAKV 635 
6_pfamImport   54 FRESCAQLGDCYSRFDIKDYHLALPYYKMSGLSITEVLKRIDSLVEgGTQKYEKGFIFYLNHSLYEDLNEELSKESAAKV 133 
XP_006033013  491 FKESCALLGDCFSRFDTKDYHLSLPYYKMSDLSMTEILKRVDS-EEdRAQKYEKGFIFYLNHSLYEELNEELSKESAAKV 569 
XP_033813685  552 FRESCGYLGDCYSRFNTKFSHLALPYYKMSALSMSDILKQGNSVIGgGREDYGKGFLFYLKHSLSEDLDEDLSEELAAKV 631 
XP_002937376  540 FKESCAHLGDWFSRLGTKHSHLALPYYKMSCLSISDIINRVVGMEM--LPGYGRGFLFYLKHVLFEEQDEQLSEAVAVKV 617 
TDH08875      699 IDIFSQSEPSQLVSVCASPPMINISPAQTLQVLQHLEATAGVSVPLTITMATMMLRLDDLPQYSQLMERHAEMLLVYGFI 778 
XP_028928299  641 IKILSVAEPKQLPHAICSPCLKNLDPVIATKALRKLGSSGPSAVLVTLTTASLALKMGNHDMFTSEMNRHPEMKLVYGFI 720 
XP_007502120  636 IQIFSIAEPKQLPHALCSPCMKNMDPLIAMKHLKKLNPAGMSSVLVALSKAAVALKIGDLNTYKKEMKCHTEMKLVCGFI 715 
NP_001139795  497 AQIFHMAEPKQLPHVLSSPSMKNIDPLTALHYLRKLDSCGVSPVLVTLTKAAVALKMGDLDMYRNEMKSHSEMKLVYGFI 576 
XP_007518124  628 VQMFHVAEPKQLPHILCTPSMKKIDPLTALNYLMKLDSSRCSAILVALTKAAVALKMGDVDLCRNELKAHTEMNLVGGFT 707 
XP_020637525  636 LQIFYLAEPNQMPHIICSPSMKNVCPKIAMEYLQRVEVV-VPSVVVTLTKASMALKMGDLDRCQNELDNYAEMMLVCGFI 714 
6_pfamImport  134 LQIFHLAEPNHLPHVLCSPFMKNVCPGMAMEILQEVEMI-MPSVLLTLTKAAMALKMGDLKAYKNELDCYTEMRLACGFI 212 
XP_006033013  570 LQIFHLAEPNQLPHVLCSPCMKNVCPSTAMEYLQKVERI-VPTLVVTLTKAAMALKMGDLETYKHEMDRYTETKLAYGFI 648 
XP_033813685  632 LQIFSTVEPTQLPHALCSTSLKNVPPRTAMDCLQKLDTA-HPSVMVTLAKAATALKIKDLVAYRTEMERHTEMMMVYGFM 710 
XP_002937376  618 IEIFNAVDKAQLPHVLCSPCLAHVCPTKAMVYLQNL----QPSALVSLIKANMARRMNDLDTCKNEIQHHSEMMLLCAFM 693 
TDH08875      779 EEPRLLLHggggGQHTHIRPTALTRQLAKSQPGLLVAAMVALHENNKVQLEQAGHIFKELgCEN--------CLQVDFWE 850 
XP_028928299  721 LEPRLLVQ----QRKGQLVPTEFAVHLKENRPGLLVASLVGLQENDKIGVEEAEPLIKAL-CEHdqd--gvpQLLIDFWE 793 
XP_007502120  716 LEPRLLVQ----QKKGQVVPTELAAHLKETQPELLVASILGLQKNNKIEVEEADAFFKVL-CGKded--vipQLLVDFWE 788 
NP_001139795  577 LEPRLLIQ----QWKGQIVPTELAIDLKETQPGLLVASVLGLQKNDKIGIVETDSFFKVL-CGKded--avpQLLIDFWE 649 
XP_007518124  708 LEPRLLVQ----QKKGQIIPTELAIHLKETQPGLLVASILGLQKNHHLEIEEADSFFKVL-CGNseg--vipQLLVDFWE 780 
XP_020637525  715 VEPRLLRQ----QIKGQMVPTELAVYLRQKRRGFLVASVLALHENNKMELEEADSYIKML-TAQded--avpQLLVDFWE 787 
6_pfamImport  213 GEPRLLRQ----QREGRIVPTELAIHLKETQPGFLVASMLALHENNKIELEEADSYFKML-CGKned--ttpQLLVDFWE 285 
XP_006033013  649 AEPRLLRQ----QRRGQVIPTELALYLKETQRGLLVASVLALYENSKIELEEANAYFKML-CGKndd--svpQLLVDFWE 721 
XP_033813685  711 IEPRLLMH----HMNGEIVSTELAIHLKKTQPGLLVASMVALYENSKIGLQEADLFLKVL-CEQhadgdrtpQLLVDFWE 785 
XP_002937376  694 DEPRLLMN----HKGKEVIPTALAFYFKDTVPGLLVASLVALHENNKISLTEAELFFQAL-CEKmddednvpQMLVDFWE 768 
TDH08875      851 AMLMASSQEAVIQELLFRLVSVYIDRLtnttsdahpnephaPSRRRSLKSADDLMNSCSHYGALYPWLTVLNPAQNTSSQ 930 
XP_028928299  794 AHLIACSQDVVLQELFFKLTSQYIWRLtr----------rqAPDTKPLKTSEDLINSCSHFGLIYPWVTCLTSTDPSPDK 863 
XP_007502120  789 AQLVASLPEIVLQNLFFKLLSQYIWRLsq----------rqSPDTKPLRNPEDLINSCSHYGLIYPWVTFLTSPDSLHDQ 858 
NP_001139795  650 AQLVACLPNVVLEELFFKLISQYVWRLse----------rrCPDTVPLRTAEDLINACSHYGLVNPWVHVLTTSDSLADK 719 
XP_007518124  781 AQLVACIPDVVLQELFLKLTSQYIWRLan----------rqPPDTTPLRTSEDLINACGHYGLIYPWVNILISSNPSPDR 850 
XP_020637525  788 ALLVVCAQENVVQKLQFRLAAEYISRLsr----------kqMPDTKPLKTTEDLINSCGHYGLIFPWVLFMMSLAPPSNQ 857 
6_pfamImport  286 ALLVAGPEREILPELLFKLTSQYIWRLsr----------kqLPDSKPLKTTEDLINSCNHYGLIFPWVTFMMSLGPACDK 355 
XP_006033013  722 ALVVCC-QGEVLQDLLLKLISQYVWRLsg----------mqYPDTVPLKTAEDLINSCDHYGLIFPWVIFMMSLGPQSDE 790 
XP_033813685  786 ALLVACPREAVLQDLLFKLISHYICRIag----------rqPPDTKPLKTPEELINSCSHYGLICPWITYMVSKELLPDN 855 
XP_002937376  769 ARLSAYPPESVLQDILFKLTSYYVWRIcr----------phHLCVKPLRSPEDLRNSCSHFGLISPWISKMVSKESALCN 838 
TDH08875      931 -HQEALYKLQSLLCGPSLSVGSVVPLMERLSEESLWGFSLHLLCTTRRGQYDRSIEKLLDRCPQAIIAYANHQLQDK-HM 1008
XP_028928299  864 sYSEDLSRLQSLLCSPSFDITCVLPFVEPLLEDKGVGLSVRVLCSARLKEHEKSIDILLETCPEAVIPYANHELREE-KK 942 
XP_007502120  859 nYAEDLSKLQSLICGPSFDVASILPFLEPLSEDTSAGLSIHLLCLTRLKEHERAIDSLLDRCPEAVIPYAHHELKEEgHR 938 
NP_001139795  720 nYTDDLLKLQSLICSPSLDVASIIPFLEPLSEDTVAGLSTHALCHTRLQEYEQCIDTLLERCPEAVIAYANQELKED-HW 798 
XP_007518124  851 kYSEDLSKLQSLICGPSFDIASIIPSLEPLSEDTATGLSIHVLCRTRLKEYDWCIDMLLERCPEAVIPYANHELKED-SR 929 
XP_020637525  858 nSSEDLSKLQSLFCSPYISADSLLSLLDALPADTVSGLSVHILCDTRLGLYEKAIDRLLEKCPEAVIPYAQHELKNE-RQ 936 
6_pfamImport  356 -NPEDLSKVQSLLCGPSVDVASVLPFLELLSEDSNDGLSVHVLCTTRAGEYEKSIDKLLEKCPEALIPYAQHELKDE-NR 433 
XP_006033013  791 vYPEDLSKLQSLLCGPSVNATSVLPFLEPLLEDSNAGLSIHVLCTTRMGECEKSIDKLLERCPEAVISYAQHELKDE-NR 869 
XP_033813685  856 dSAEELSKLQSLLCGPSFDITSVLPFLEPLEENCIASLSVSVLCVTRLGEYEKAINKLLDQCPEAVISYASHELKDA-NQ 934 
XP_002937376  839 -HCGEFLKLQSLLSGPSMDVKLFLPFLKLIPEDSNSSLSIHILCATRLMQYEKSIDKLLDCCPEAIIAYAKHEVKEG-SQ 916 
TDH08875     1009 VLWWQKLLPELCNRTR-AAADNSILLSALKETLVVVAMETSPTEFLELMPDDGTAFYFLPHLLTCSQSH 1076
XP_028928299  943 ALWWKKLLPELCERTRlGGDRYEVHLTSLKETLSVVAMELELRDFVNILPESGTVAFFLPYLLCCSQKK 1011
XP_007502120  939 ALWWKKLLPDLCQRLReGGEKYDVHLSSLKETLAVVAAELELRDFLNILPEDGTAAFFLPYLLYSSRKK 1007
NP_001139795  799 ILWWKKLLPELCQRVKsGGERSHLHLSLLKETLSVIAVGLDLRDFLNVLPEDGAAAFFLPYLLFCSRKK 867 
XP_007518124  930 TLWWEKLLPELCQRMKcGGERCQLYLSSLKETLSVVAVELELRDFLNVLPEDGTVAFFLPYLLYCSRKK 998 
XP_020637525  937 ALWWNKLLPELCNRTRnAGEHYPVLLSSLQETLSVIAMELELKDFLNFLPEDGNAAFFMPHLLQCSRRK 1005
6_pfamImport  434 ALWWNRLLPELCKRTRyAGDDYSILLSSLKETLSIVAMELELRDFLNVLPDDGTAAFFLPHLLQCSKRK 502 
XP_006033013  870 ALWWTKLLPDLCKRTRcPGEDYSILVSALKETLSVVATELELKDFLNVLPEDGTAAFFVPHLLQCSQRK 938 
XP_033813685  935 ILWWTKLLPELCSRIRhGGSENRILISALRDTLSVVSMELDLKDFLNVLPEDGSATFFLPYLLHQSRKK 1003
XP_002937376  917 TIWWNKLLPELCNRIRsSQSNNEVFISSLKDTLEIMAMELDTKDFLNALPDDGTAAFFLPYLLNQSKKK 985 
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