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Conserved domains on  [gi|568924621|ref|XP_006502415|]
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lipopolysaccharide-responsive and beige-like anchor protein isoform X5 [Mus musculus]

Protein Classification

Graphical summary

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List of domain hits

 Name Accession Description Interval E-value
DUF4704 pfam15787
Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in ...
 441-921 0e+00

Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in eukaryotes on neurobeachin and BEACH domain-containing proteins (BDCPs). Mutations in this proteins are associated with Lipopolysaccharide-responsive and beige-like anchor (LRBA) deficiency. According to structure prediction is adopts an alpha-helical solenoid structure.


:

Pssm-ID: 464870  Cd Length: 486  Bit Score: 650.50  E-value: 0e+00
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   441 SIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLFAQLDYKQYLSD-----EVDLTICTTLLAFIMELLKNSIAM 515
Cdd:pfam15787    1 AAFVHSPHALMLGGVQLCVTHSIHSILYSVGGIQVLFPLFSQLDQPVEDEQlpgtsEADYSLCATLLSLIADLLESSPTN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   516 QEQMLACKGFLVIGYSLEKSSKSHVSRAVLELCLAFSKYLSNLQNGMPLLKQLCDHILLNPAVWIHTPAKVQLMLYTYLS 595
Cdd:pfam15787   81 QQQMHQLRGFLVLGYLLQSASPKHLTLEVLNALLSLAKVLVSLPTSEVLLKDLFDHILFNPKLWIYTDYEVQKKLYSYLA 160

                          170       180       190       200       210       220       230       240
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   596 TEFIGTVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEILSLRAFLLMFIKQLVMKDSGVKED 675
Cdd:pfam15787  161 TDFVSDSRIYTNVRRVSTVQRLLDTLKQFYWVVNPRSRSGVTPKGLDGPRPSQEEILKLRLLLLSLIEQLVRKGPGISES 240

                          250       260       270       280       290       300       310       320
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   676 ELQAILNYLLTMHEDDNLMDVLQLLVALMAEHPNSMIPAFDQRNGLRVIYKLLASKSEGIRVQALKALGYFLKHLAPKRK 755
Cdd:pfam15787  241 ELQALLNYLLTCHDDENVEDVLQLLIRLLSEHPQSFLPAFDSKGGIQIFLKLLARESEPIRLQALKLLGKLLSRSPHKRK 320

                          330       340       350       360       370       380       390       400
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   756 AEVMLGHGLFSLLAERLMLQTNLITMTMYNVLFEILIEQICTQVIHKQHPDPDSTVKIQNPQILKVIATLLRNSPQCpES 835
Cdd:pfam15787  321 SEVMGAHNLFSLISERLLLFPDTLTDPTYNVLFEILLGGASPQQVYEKHSEPEKHSRFENPQILKVIFRLLRQSKDS-ES 399

                          410       420       430       440       450       460       470       480
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   836 MEVRRAFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDE-QKITEMVYAIFRILLYHAVKYEWGGWRVWVD 914
Cdd:pfam15787  400 MMLRKLFLSDLLNLLNSNRANRRTLLQMSVWQEWLFSSAYLAPIKNYEqQNETELVYSLFRILLHHALKNEKGGWRVWVD 479


                   ....*..
gi 568924621   915 TLSITHS 921
Cdd:pfam15787  480 TLAILHS 486
DUF1088 pfam06469
Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain ...
 1882-2061 3.66e-95

Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localized near Golgi apparatus and is involved in vesicular trafficking, intracellular transport, membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency, responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). NBEAs deficiency may induce spine loss with defects in synaptic efficacy and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes.


:

Pssm-ID: 461925  Cd Length: 168  Bit Score: 304.52  E-value: 3.66e-95
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1882 EGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESLCAQYSADKREEEKMCDHLIRAAKYRDHVTATQLIQKIIN 1961
Cdd:pfam06469    1 EGRLLSHAMKDHVVRVANEAEFILNRQRAEDVHKHAEFESECAQYLADRREEEKMCDHLITAAKRRDHVTATQLLQKIVN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1962 LLTDKHGAWGSSAVSRPREFWRLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHgqclnhslpiaaAADEDILAKGKQ 2041
Cdd:pfam06469   81 ILTNKHGAWGYPNQSRLSEFWRLDYWEDDLRRRRRFVRNPYGSTHPEATLKSAQEH------------ALPEDRIVKSKL 148

                          170       180
                   ....*....|....*....|
gi 568924621  2042 SIKSQALGNQNSENEALLEG 2061
Cdd:pfam06469  149 VFRSQRLASQNSETELVLDG 168
PH-like super family cl17171
Pleckstrin homology-like domain; The PH-like family includes the PH domain, both the Shc-like ...
 2080-2122 3.35e-08

Pleckstrin homology-like domain; The PH-like family includes the PH domain, both the Shc-like and IRS-like PTB domains, the ran-binding domain, the EVH1 domain, a domain in neurobeachin and the third domain of FERM. All of these domains have a PH fold, but lack significant sequence similarity. They are generally involved in targeting to protein to the appropriate cellular location or interacting with a binding partner. This domain family possesses multiple functions including the ability to bind inositol phosphates and to other proteins.


The actual alignment was detected with superfamily member cd01201:

Pssm-ID: 473070  Cd Length: 112  Bit Score: 53.39  E-value: 3.35e-08
                          10        20        30        40
                  ....*....|....*....|....*....|....*....|...
gi 568924621 2080 PVSLSTPAQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKID 2122
Cdd:cd01201     2 KILLSVNCSLVTPLDVIEGRLLITKTHLYFVDDFTISEDGKIV 44
Laminin_G_3 super family cl48183
Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin ...
 229-376 1.23e-07

Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin A-like lectin/glucanases superfamily.


The actual alignment was detected with superfamily member pfam13385:

Pssm-ID: 463865 [Multi-domain]  Cd Length: 151  Bit Score: 53.16  E-value: 1.23e-07
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   229 NGFTFHTWLRMDpvnniNVDKDKPYLycFRTSKGLGYSAHFVG-GCLIITSIKSKGKGFQHCVKFDFKPQKWYMVTIVhi 307
Cdd:pfam13385   17 SDFTVSAWVKPD-----SLPGWARAI--ISSSGGGGYSLGLDGdGRLRFAVNGGNGGWDTVTSGASVPLGQWTHVAVT-- 87

                           90       100       110       120       130       140       150
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|.
gi 568924621   308 ynrWKNSELRCYVNGELASYGEIT--WFVNTSDTFdkcFLGSSetADANRVFCGQMTAVYLFSDALNAAQI 376
Cdd:pfam13385   88 ---YDGGTLRLYVNGVLVGSSTLTggPPPGTGGPL---YIGRS--PGGDDYFNGLIDEVRIYDRALSAAEI 150
 
Name Accession Description Interval E-value
DUF4704 pfam15787
Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in ...
 441-921 0e+00

Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in eukaryotes on neurobeachin and BEACH domain-containing proteins (BDCPs). Mutations in this proteins are associated with Lipopolysaccharide-responsive and beige-like anchor (LRBA) deficiency. According to structure prediction is adopts an alpha-helical solenoid structure.


Pssm-ID: 464870  Cd Length: 486  Bit Score: 650.50  E-value: 0e+00
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   441 SIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLFAQLDYKQYLSD-----EVDLTICTTLLAFIMELLKNSIAM 515
Cdd:pfam15787    1 AAFVHSPHALMLGGVQLCVTHSIHSILYSVGGIQVLFPLFSQLDQPVEDEQlpgtsEADYSLCATLLSLIADLLESSPTN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   516 QEQMLACKGFLVIGYSLEKSSKSHVSRAVLELCLAFSKYLSNLQNGMPLLKQLCDHILLNPAVWIHTPAKVQLMLYTYLS 595
Cdd:pfam15787   81 QQQMHQLRGFLVLGYLLQSASPKHLTLEVLNALLSLAKVLVSLPTSEVLLKDLFDHILFNPKLWIYTDYEVQKKLYSYLA 160

                          170       180       190       200       210       220       230       240
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   596 TEFIGTVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEILSLRAFLLMFIKQLVMKDSGVKED 675
Cdd:pfam15787  161 TDFVSDSRIYTNVRRVSTVQRLLDTLKQFYWVVNPRSRSGVTPKGLDGPRPSQEEILKLRLLLLSLIEQLVRKGPGISES 240

                          250       260       270       280       290       300       310       320
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   676 ELQAILNYLLTMHEDDNLMDVLQLLVALMAEHPNSMIPAFDQRNGLRVIYKLLASKSEGIRVQALKALGYFLKHLAPKRK 755
Cdd:pfam15787  241 ELQALLNYLLTCHDDENVEDVLQLLIRLLSEHPQSFLPAFDSKGGIQIFLKLLARESEPIRLQALKLLGKLLSRSPHKRK 320

                          330       340       350       360       370       380       390       400
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   756 AEVMLGHGLFSLLAERLMLQTNLITMTMYNVLFEILIEQICTQVIHKQHPDPDSTVKIQNPQILKVIATLLRNSPQCpES 835
Cdd:pfam15787  321 SEVMGAHNLFSLISERLLLFPDTLTDPTYNVLFEILLGGASPQQVYEKHSEPEKHSRFENPQILKVIFRLLRQSKDS-ES 399

                          410       420       430       440       450       460       470       480
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   836 MEVRRAFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDE-QKITEMVYAIFRILLYHAVKYEWGGWRVWVD 914
Cdd:pfam15787  400 MMLRKLFLSDLLNLLNSNRANRRTLLQMSVWQEWLFSSAYLAPIKNYEqQNETELVYSLFRILLHHALKNEKGGWRVWVD 479


                   ....*..
gi 568924621   915 TLSITHS 921
Cdd:pfam15787  480 TLAILHS 486
DUF1088 pfam06469
Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain ...
 1882-2061 3.66e-95

Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localized near Golgi apparatus and is involved in vesicular trafficking, intracellular transport, membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency, responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). NBEAs deficiency may induce spine loss with defects in synaptic efficacy and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes.


Pssm-ID: 461925  Cd Length: 168  Bit Score: 304.52  E-value: 3.66e-95
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1882 EGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESLCAQYSADKREEEKMCDHLIRAAKYRDHVTATQLIQKIIN 1961
Cdd:pfam06469    1 EGRLLSHAMKDHVVRVANEAEFILNRQRAEDVHKHAEFESECAQYLADRREEEKMCDHLITAAKRRDHVTATQLLQKIVN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1962 LLTDKHGAWGSSAVSRPREFWRLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHgqclnhslpiaaAADEDILAKGKQ 2041
Cdd:pfam06469   81 ILTNKHGAWGYPNQSRLSEFWRLDYWEDDLRRRRRFVRNPYGSTHPEATLKSAQEH------------ALPEDRIVKSKL 148

                          170       180
                   ....*....|....*....|
gi 568924621  2042 SIKSQALGNQNSENEALLEG 2061
Cdd:pfam06469  149 VFRSQRLASQNSETELVLDG 168
PH_BEACH cd01201
Pleckstrin homology domain in BEACH domain containing proteins; The BEACH domain is present in ...
 2080-2122 3.35e-08

Pleckstrin homology domain in BEACH domain containing proteins; The BEACH domain is present in several eukaroyotic proteins CHS, neurobeachin (Nbea), LRBA (also called BGL, beige-like, or CDC4L), FAN, KIAA1607, and LvsA-LvsF. CHS is a rare, autosomal recessive disorder that can cause severe immunodeficiency and albinism in mammals and beige is the name for the CHS disease in mice. The CHS disease is associated with the presence of giant, perinuclear vesicles (lysosomes, melanosomes, and others) and CHS protein is thought to play an important role in the fusion, fission, or trafficking of these vesicles. All BEACH proteins contain the following domains: PH, BEACH, and WD40. The WD40 domain is involved in mediating protein-protein interactions involved in targeting proteins to subcellular compartments. The combined PH-BEACH motifs may present a single continuous structural unit involved in protein binding. Some members have an additional N-terminal Laminin G-like (LamG) domains Ca++ mediated receptors or an additional C-terminal FYVE zinc-binding domain which targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P. PH domains have diverse functions, but in general are involved in targeting proteins to the appropriate cellular location or in the interaction with a binding partner. They share little sequence conservation, but all have a common fold, which is electrostatically polarized. Less than 10% of PH domains bind phosphoinositide phosphates (PIPs) with high affinity and specificity. PH domains are distinguished from other PIP-binding domains by their specific high-affinity binding to PIPs with two vicinal phosphate groups: PtdIns(3,4)P2, PtdIns(4,5)P2 or PtdIns(3,4,5)P3 which results in targeting some PH domain proteins to the plasma membrane. A few display strong specificity in lipid binding. Any specificity is usually determined by loop regions or insertions in the N-terminus of the domain, which are not conserved across all PH domains. PH domains are found in cellular signaling proteins such as serine/threonine kinase, tyrosine kinases, regulators of G-proteins, endocytotic GTPases, adaptors, as well as cytoskeletal associated molecules and in lipid associated enzymes.


Pssm-ID: 275391  Cd Length: 112  Bit Score: 53.39  E-value: 3.35e-08
                          10        20        30        40
                  ....*....|....*....|....*....|....*....|...
gi 568924621 2080 PVSLSTPAQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKID 2122
Cdd:cd01201     2 KILLSVNCSLVTPLDVIEGRLLITKTHLYFVDDFTISEDGKIV 44
Laminin_G_3 pfam13385
Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin ...
 229-376 1.23e-07

Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin A-like lectin/glucanases superfamily.


Pssm-ID: 463865 [Multi-domain]  Cd Length: 151  Bit Score: 53.16  E-value: 1.23e-07
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   229 NGFTFHTWLRMDpvnniNVDKDKPYLycFRTSKGLGYSAHFVG-GCLIITSIKSKGKGFQHCVKFDFKPQKWYMVTIVhi 307
Cdd:pfam13385   17 SDFTVSAWVKPD-----SLPGWARAI--ISSSGGGGYSLGLDGdGRLRFAVNGGNGGWDTVTSGASVPLGQWTHVAVT-- 87

                           90       100       110       120       130       140       150
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|.
gi 568924621   308 ynrWKNSELRCYVNGELASYGEIT--WFVNTSDTFdkcFLGSSetADANRVFCGQMTAVYLFSDALNAAQI 376
Cdd:pfam13385   88 ---YDGGTLRLYVNGVLVGSSTLTggPPPGTGGPL---YIGRS--PGGDDYFNGLIDEVRIYDRALSAAEI 150
PH_BEACH pfam14844
PH domain associated with Beige/BEACH; This PH domain is found in proteins containing the ...
 2087-2131 4.75e-06

PH domain associated with Beige/BEACH; This PH domain is found in proteins containing the Beige/BEACH domain (pfam02138), it immediately precedes the Beige/BEACH domain.


Pssm-ID: 434260  Cd Length: 99  Bit Score: 46.87  E-value: 4.75e-06
                           10        20        30        40
                   ....*....|....*....|....*....|....*....|....*
gi 568924621  2087 AQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKIDPKAVILPFK 2131
Cdd:pfam14844    1 CELVTPMGVVRGKLSITTDHIYFTADDEDEALDSVQESESLGYDK 45
 
Name Accession Description Interval E-value
DUF4704 pfam15787
Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in ...
 441-921 0e+00

Neurobeachin/BDCP, DUF4704 alpha solenoid region; This domain of unknown function is found in eukaryotes on neurobeachin and BEACH domain-containing proteins (BDCPs). Mutations in this proteins are associated with Lipopolysaccharide-responsive and beige-like anchor (LRBA) deficiency. According to structure prediction is adopts an alpha-helical solenoid structure.


Pssm-ID: 464870  Cd Length: 486  Bit Score: 650.50  E-value: 0e+00
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   441 SIFVHSPHALMLQDVKAVLTHSIQSAMHSIGGVQVLFPLFAQLDYKQYLSD-----EVDLTICTTLLAFIMELLKNSIAM 515
Cdd:pfam15787    1 AAFVHSPHALMLGGVQLCVTHSIHSILYSVGGIQVLFPLFSQLDQPVEDEQlpgtsEADYSLCATLLSLIADLLESSPTN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   516 QEQMLACKGFLVIGYSLEKSSKSHVSRAVLELCLAFSKYLSNLQNGMPLLKQLCDHILLNPAVWIHTPAKVQLMLYTYLS 595
Cdd:pfam15787   81 QQQMHQLRGFLVLGYLLQSASPKHLTLEVLNALLSLAKVLVSLPTSEVLLKDLFDHILFNPKLWIYTDYEVQKKLYSYLA 160

                          170       180       190       200       210       220       230       240
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   596 TEFIGTVNIYNTIRRVGTVLLIMHTLKYYYWAVNPQDRSGITPKGLDGPRPNQKEILSLRAFLLMFIKQLVMKDSGVKED 675
Cdd:pfam15787  161 TDFVSDSRIYTNVRRVSTVQRLLDTLKQFYWVVNPRSRSGVTPKGLDGPRPSQEEILKLRLLLLSLIEQLVRKGPGISES 240

                          250       260       270       280       290       300       310       320
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   676 ELQAILNYLLTMHEDDNLMDVLQLLVALMAEHPNSMIPAFDQRNGLRVIYKLLASKSEGIRVQALKALGYFLKHLAPKRK 755
Cdd:pfam15787  241 ELQALLNYLLTCHDDENVEDVLQLLIRLLSEHPQSFLPAFDSKGGIQIFLKLLARESEPIRLQALKLLGKLLSRSPHKRK 320

                          330       340       350       360       370       380       390       400
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   756 AEVMLGHGLFSLLAERLMLQTNLITMTMYNVLFEILIEQICTQVIHKQHPDPDSTVKIQNPQILKVIATLLRNSPQCpES 835
Cdd:pfam15787  321 SEVMGAHNLFSLISERLLLFPDTLTDPTYNVLFEILLGGASPQQVYEKHSEPEKHSRFENPQILKVIFRLLRQSKDS-ES 399

                          410       420       430       440       450       460       470       480
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   836 MEVRRAFLSDMIKLFNNSRENRRSLLQCSVWQEWMLSLCYFNPKNSDE-QKITEMVYAIFRILLYHAVKYEWGGWRVWVD 914
Cdd:pfam15787  400 MMLRKLFLSDLLNLLNSNRANRRTLLQMSVWQEWLFSSAYLAPIKNYEqQNETELVYSLFRILLHHALKNEKGGWRVWVD 479


                   ....*..
gi 568924621   915 TLSITHS 921
Cdd:pfam15787  480 TLAILHS 486
DUF1088 pfam06469
Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain ...
 1882-2061 3.66e-95

Neurobeachin-like, DUF1088; This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localized near Golgi apparatus and is involved in vesicular trafficking, intracellular transport, membrane dynamics, endosomal recycling, and receptor signalling. BDCPs are associated with lysosome size, apoptosis, autophagy, granule size, or synapse formation. Mutations in this domain have been related to autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency, responsible for common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). NBEAs deficiency may induce spine loss with defects in synaptic efficacy and plasticity, being associated with autism spectrum disorder (ASD) and ASD-related syndromes.


Pssm-ID: 461925  Cd Length: 168  Bit Score: 304.52  E-value: 3.66e-95
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1882 EGRLLSQTMKDHLVRVANEAEFILSRQRAEDIHRHAEFESLCAQYSADKREEEKMCDHLIRAAKYRDHVTATQLIQKIIN 1961
Cdd:pfam06469    1 EGRLLSHAMKDHVVRVANEAEFILNRQRAEDVHKHAEFESECAQYLADRREEEKMCDHLITAAKRRDHVTATQLLQKIVN 80

                           90       100       110       120       130       140       150       160
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621  1962 LLTDKHGAWGSSAVSRPREFWRLDYWEDDLRRRRRFVRNPLGSTHPEATLKTAVEHgqclnhslpiaaAADEDILAKGKQ 2041
Cdd:pfam06469   81 ILTNKHGAWGYPNQSRLSEFWRLDYWEDDLRRRRRFVRNPYGSTHPEATLKSAQEH------------ALPEDRIVKSKL 148

                          170       180
                   ....*....|....*....|
gi 568924621  2042 SIKSQALGNQNSENEALLEG 2061
Cdd:pfam06469  149 VFRSQRLASQNSETELVLDG 168
PH_BEACH cd01201
Pleckstrin homology domain in BEACH domain containing proteins; The BEACH domain is present in ...
 2080-2122 3.35e-08

Pleckstrin homology domain in BEACH domain containing proteins; The BEACH domain is present in several eukaroyotic proteins CHS, neurobeachin (Nbea), LRBA (also called BGL, beige-like, or CDC4L), FAN, KIAA1607, and LvsA-LvsF. CHS is a rare, autosomal recessive disorder that can cause severe immunodeficiency and albinism in mammals and beige is the name for the CHS disease in mice. The CHS disease is associated with the presence of giant, perinuclear vesicles (lysosomes, melanosomes, and others) and CHS protein is thought to play an important role in the fusion, fission, or trafficking of these vesicles. All BEACH proteins contain the following domains: PH, BEACH, and WD40. The WD40 domain is involved in mediating protein-protein interactions involved in targeting proteins to subcellular compartments. The combined PH-BEACH motifs may present a single continuous structural unit involved in protein binding. Some members have an additional N-terminal Laminin G-like (LamG) domains Ca++ mediated receptors or an additional C-terminal FYVE zinc-binding domain which targets proteins to membrane lipids via interaction with phosphatidylinositol-3-phosphate, PI3P. PH domains have diverse functions, but in general are involved in targeting proteins to the appropriate cellular location or in the interaction with a binding partner. They share little sequence conservation, but all have a common fold, which is electrostatically polarized. Less than 10% of PH domains bind phosphoinositide phosphates (PIPs) with high affinity and specificity. PH domains are distinguished from other PIP-binding domains by their specific high-affinity binding to PIPs with two vicinal phosphate groups: PtdIns(3,4)P2, PtdIns(4,5)P2 or PtdIns(3,4,5)P3 which results in targeting some PH domain proteins to the plasma membrane. A few display strong specificity in lipid binding. Any specificity is usually determined by loop regions or insertions in the N-terminus of the domain, which are not conserved across all PH domains. PH domains are found in cellular signaling proteins such as serine/threonine kinase, tyrosine kinases, regulators of G-proteins, endocytotic GTPases, adaptors, as well as cytoskeletal associated molecules and in lipid associated enzymes.


Pssm-ID: 275391  Cd Length: 112  Bit Score: 53.39  E-value: 3.35e-08
                          10        20        30        40
                  ....*....|....*....|....*....|....*....|...
gi 568924621 2080 PVSLSTPAQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKID 2122
Cdd:cd01201     2 KILLSVNCSLVTPLDVIEGRLLITKTHLYFVDDFTISEDGKIV 44
Laminin_G_3 pfam13385
Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin ...
 229-376 1.23e-07

Concanavalin A-like lectin/glucanases superfamily; This domain belongs to the Concanavalin A-like lectin/glucanases superfamily.


Pssm-ID: 463865 [Multi-domain]  Cd Length: 151  Bit Score: 53.16  E-value: 1.23e-07
                           10        20        30        40        50        60        70        80
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
gi 568924621   229 NGFTFHTWLRMDpvnniNVDKDKPYLycFRTSKGLGYSAHFVG-GCLIITSIKSKGKGFQHCVKFDFKPQKWYMVTIVhi 307
Cdd:pfam13385   17 SDFTVSAWVKPD-----SLPGWARAI--ISSSGGGGYSLGLDGdGRLRFAVNGGNGGWDTVTSGASVPLGQWTHVAVT-- 87

                           90       100       110       120       130       140       150
                   ....*....|....*....|....*....|....*....|....*....|....*....|....*....|.
gi 568924621   308 ynrWKNSELRCYVNGELASYGEIT--WFVNTSDTFdkcFLGSSetADANRVFCGQMTAVYLFSDALNAAQI 376
Cdd:pfam13385   88 ---YDGGTLRLYVNGVLVGSSTLTggPPPGTGGPL---YIGRS--PGGDDYFNGLIDEVRIYDRALSAAEI 150
PH_BEACH pfam14844
PH domain associated with Beige/BEACH; This PH domain is found in proteins containing the ...
 2087-2131 4.75e-06

PH domain associated with Beige/BEACH; This PH domain is found in proteins containing the Beige/BEACH domain (pfam02138), it immediately precedes the Beige/BEACH domain.


Pssm-ID: 434260  Cd Length: 99  Bit Score: 46.87  E-value: 4.75e-06
                           10        20        30        40
                   ....*....|....*....|....*....|....*....|....*
gi 568924621  2087 AQLVAPSVVVKGTLSVTSSELYFEVDEEDPNFKKIDPKAVILPFK 2131
Cdd:pfam14844    1 CELVTPMGVVRGKLSITTDHIYFTADDEDEALDSVQESESLGYDK 45
 
Blast search parameters
Data Source: Precalculated data, version = cdd.v.3.21
Preset Options:Database: CDSEARCH/cdd   Low complexity filter: no  Composition Based Adjustment: yes   E-value threshold: 0.01

References:

  • Wang J et al. (2023), "The conserved domain database in 2023", Nucleic Acids Res.51(D)384-8.
  • Lu S et al. (2020), "The conserved domain database in 2020", Nucleic Acids Res.48(D)265-8.
  • Marchler-Bauer A et al. (2017), "CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.", Nucleic Acids Res.45(D)200-3.
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