Conserved Protein Domain Family
2A060601

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TIGR00917: 2A060601 
Niemann-Pick C type protein family
The model describes Niemann-Pick C type protein in eukaryotes. The defective protein has been associated with Niemann-Pick disease which is described in humans as autosomal recessive lipidosis. It is characterized by the lysosomal accumulation of unestrified cholesterol. It is an integral membrane protein, which indicates that this protein is most likely involved in cholesterol transport or acts as some component of cholesterol homeostasis. [Transport and binding proteins, Other]
Statistics
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PSSM-Id: 273337
Aligned: 3 rows
Threshold Bit Score: 1687.01
Created: 7-Oct-2014
Updated: 25-Oct-2021
Structure
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Aligned Rows:
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
AAB63982   25 CVWYGECGIAYGDkRYNCEYSGPPKPLPKDGYDLVQELCpGFFFGNVS--LCCDVRQLQTLKDNLQLPLQFLSRCPSCFY 102  human
AAF25228   30 PFPYNTTEGCSMN-GLNASYIESGLYPPYHNQILAPGTC-QYSHPEYSetSCCTNGQTLVLLSNMVMGSAVFARCPACLF 107  Dictyostelium dis...
AAF24537   19 CAMYDICGARSDGkVLNCPFNIPSVKPDDLLSSKIQSLC-----PTITgnVCCTETQFDTLRSQVQQAIPFIVGCPACLR 93   thale cress
AAB63982  103 NLLNLFCELTCSPRQSQFLNVTATEDyvdpvtnQTKtNVKELQYYVGQSFANAMYNACRDVEAPSSNDK------ALGLL 176  human
AAF25228  108 NVWDLWCASSCSPYQQSFMVPTSIDS-------KTG-QILSVDFVIHPDYAWGLYNSCSGVNSDGAPPFgtifhtPQDFF 179  Dictyostelium dis...
AAF24537   94 NFLNLFCELTCSPDQSLFINVTSTTKv------KNNsTVDGIQYYITDDFGAGMYESCKNVKFGSSNSR------ALDFL 161  thale cress
AAB63982  177 CG-KDADACNATNWIEYMFNKDNGQAPFTITPVFSDFP-VHGMEPMN--------------------------------- 221  human
AAF25228  180 SGiFALNPAFSINWVFNETGYISPTAPCAESCSCDQCGdACGPPPTVgeiglfnnslpqtylfnheipflsvwmiwtfim 259  Dictyostelium dis...
AAF24537  162 Ga-GAKNFKEWFTFIGQKAGVNLPGSPYGIAFLPTP-PvSSGMRPMN--------------------------------- 206  thale cress
AAB63982  222 ---------------------------------NATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILG---L 265  human
AAF25228  260 ftlvltygtsmglvlfgnvkffdstkvkviaslVLSISFISAILIPFISGKVPLHDSSCQWKMPSDQLWNCSLALG---V 336  Dictyostelium dis...
AAF24537  207 ---------------------------------VSIYSCGDESLGCSCGDCPSAATCSSKAEVPTQKKHSCSIKIGsleV 253  thale cress
AAB63982  266 DAMYVIMWITYMAFLLVFFG--AFFAVWCYRKRYFVSEYTPIDSNIAFSVNASD--------KGEASCCDPVSAAFEGCL 335  human
AAF25228  337 GIYELITFIFLFVISIVIIVlyHIGSNNRPIPGSSSNASVVYDALISSNSSNND--------NSNSNNNEQQQQQPSTII 408  Dictyostelium dis...
AAF24537  254 KCVDFILAILYIVLVSLFLGggLLHPVRGKKKTSQMGTLSEASGERNSVNQQKPdtiqsqmlQNTPQRNWGQLSTVQGHL 333  thale cress
AAB63982  336 RRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFDQHFGPFFRTEQLIIRAPlt 415  human
AAF25228  409 QRFFYWYGHKVASKPLIVILICIIITAGLGIGIIKLEIEQDPVKLWVAPDSRAALDKTYFDNNFGPFYRVEQIIITPK-- 486  Dictyostelium dis...
AAF24537  334 ANFYGKYGIWVARHPTLVLCLSVSVVLLLCVGLIRFKVETRPDKLWVGSGSRAAEEKQFFDTHLAPFYRIEQLIIATVqt 413  thale cress
AAB63982  416 DKhiyqpypsgadVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYntnCTILSVLNYFQNSHSVL 495  human
AAF25228  487 NQ-----------TKYPTVIEYDLLLELFEIELSLMSLEAEYEGELITLDSLCFKPTKRG---CLIESTSGLWQRNISKL 552  Dictyostelium dis...
AAF24537  414 SSh----------EKAPEILTDDNIKLLFDIQKKVSQLFSN----------P---SNHPYn--VFMYRTCKKLFNMYFKM 468  thale cress
AAB63982  496 DHKKGDDFFVyaDYHTHFLYCVRAPaslndtsllhdPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNny-yNDT 574  human
AAF25228  553 NYTQSEEGVL--TYYENCQSSLLQP-----------DCMDSVGAPVQPRVVLGGWENNNSSAASAFVVTFLLN----NPT 615  Dictyostelium dis...
AAF24537  469 KPENYDDYGGv-DHVKYCFEHFTSTe----------SCLSAFKGPLDPTTALGGFSGNSFSEASAFLVTYPVDnfvdNKG 537  thale cress
AAB63982  575 EKLQRAQAWEKEFINFVKNYKNPNLT-----ISFTAERSIEDELNRESDSDVFTVVIS---------------------- 627  human
AAF25228  616 DMVNTAMAWEQVWLDHISAIAATSEIf---dITYSAERSVQDELSREGNADIPTILIS---------------------- 670  Dictyostelium dis...
AAF24537  538 NKTEKAVAWEKAFIQLAKDELLPMVQaknltLSFSSESSIEEELKRESTADVITIAVIcfsfilywvsnmsfmssishvs 617  thale cress
AAB63982  628 -----YAIMFLYISLALG----HIKSCRRLLVDSKVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVG 698  human
AAF25228  671 -----YFVMFFYVSLSLGsyypFPTRFLSLFVRSRFALGFCGIIIVAASIVISVGVCSMANLKATLIISEVIPFLVLAIG 745  Dictyostelium dis...
AAF24537  618 llqisYLVMFAYISLTLG----DSPRLKSFYITSKVLLGLSGVLLVMLSVLGSVGFFSAVGMKSTLIIMEVIPFLVLAVI 693  thale cress
AAB63982  699 VDN------------------IFILVQAYQRDERLQGE--------------------TLDQQLGRVLGEVAPSMFLSSF 740  human
AAF25228  746 VDN------------------IFIIVNTFESLHVVRYDphtra-----------ailpTSEDSLARTLAKVGPSIALASL 796  Dictyostelium dis...
AAF24537  694 VSIsniacnfnmladvvatffILFLIFFYFYLEYFYRQvgvdnmcilvhavkrqeqelPLERRISNALMEVGPSITLASL 773  thale cress
AAB63982  741 SETVAFFLGALSVMPAVHTFSLFAG--------------------LAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCC 800  human
AAF25228  797 SESLAFLLGSLTKMPAVQAFSYYAA--------------------LAIFVDFLLQVSAFSALLVLDSKRASSRRIDCLPC 856  Dictyostelium dis...
AAF24537  774 AEILAFAVGAFIKMPAVRVFSMFAVyslnafiiyfltsicimlaaLAVLLDFLLQITAFVALIVFDFRRTEDKRVDCFPC 853  thale cress
AAB63982  801 VRGAEDG-----------------------------------TSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGV 845  human
AAF25228  857 IALEDGDnsdmeddddeeneklpfaradinanfknsqptystSSSPKKTTLLQVVFKKFYAPFLLHPITKMLVIIFFVGL 936  Dictyostelium dis...
AAF24537  854 IKTSKSSisa------------------------------ekGVGQRKAGLLTRYMKEVHAPVLSHWIVKIVVIAFFFGL 903  thale cress
AAB63982  846 LSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQqifn 925  human
AAF25228  937 LLTGINFAFQVSIGLDQRVALPSNSYLQGYFNNMANLLEVGPPFYIVIKGDYNYTDFESQNKLCTMGGCDKDSIVN---- 1012 Dictyostelium dis...
AAF24537  904 AMAGIALSTRIEPGLEQQIVLPQDSYLQIARASLTP-------------------------------------------- 939  thale cress
AAB63982  926 aaQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNasVVDPACVRCRplTPEGKQRPQGGDFMRFLPMFLSD 1005 human
AAF25228 1013 --VFNNAPFINKGISSWLDDYISFAQAQGSCCLKYPNGSICYN--GADPSCAPCF--SNNAQGRPDPQSFIQYLPFFLNV 1086 Dictyostelium dis...
AAF24537  940 -----ELSYIAKPAASWLDDFLVWLSPEAFGCCRKFTNGTFCP---PDDQCFRHAdlSSD---RPSTTQFKEKLPWFLNA 1008 thale cress
AAB63982 1006 NPNPKCGKGGHAAYSSAVNILLghgTrVGATYFMTYHTVLQTSADFIDALKKARLIASnvtetmginGSAYRVFPYSVFY 1085 human
AAF25228 1087 SNTASCPLAGLAYTSDAHIVNG---T-IVASRFDGYHTTLRTQDDYINAVQTAYYLAD---------NSDLDVEVYSIIY 1153 Dictyostelium dis...
AAF24537 1009 LPSADCAKGGHGAYSSSVDLQGyanGiIQASSFRTYHTPLNKQVDFVNSMRAAQEFSAkv-----srSLKMEIYPYSVFY 1083 thale cress
AAB63982 1086 VFYEQYLTIIDDTIFNLGVSLGAIFLVTMVLLgCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISV 1165 human
AAF25228 1154 VYFDQYLTIKSVAIMDILLALGGVFIVCLILL-LNPLVSFLVVISVGMICVDLLGIMALWNISLNAVSVVNVVMAIGIGI 1232 Dictyostelium dis...
AAF24537 1084 MFFEQYLDIWKTALINLSI---AI--V--FHIqLNALSVVNLIMSVGIAVEFCVHITHAFSVSP--LSVCTSIIHKQFAI 1154 thale cress
AAB63982 1166 EFCSHITRAFTVS-MKGSRVERAEEALAHMGSSVFSGITLTKFGGIVVLAFAKSQIFQIFYFRMYLAMVLLGATHGLIFL 1244 human
AAF25228 1233 EFCVHIASTFINApKHFSRDQKAKYAVTEMGSSIISGIFITKLLGVVVLGFSTSEIFTVYYFRMYLSIVFLGGLHGLVFL 1312 Dictyostelium dis...
AAF24537 1155 VTLTVRNAQISTG----DRNHRMKEALGGMGASVFSGITLTKLVGVIVLGFSRSEVFVVYYFKMYLALVLLGFLHGLVFL 1230 thale cress
AAB63982 1245 PVLLSYIG 1252 human
AAF25228 1313 PVLLSLFG 1320 Dictyostelium discoideum
AAF24537 1231 PVSHGVLE 1238 thale cress
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