Conserved Protein Domain Family
DUF1088
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pfam06469: DUF1088 (This model is not part of the current CDD release)
Neurobeachin-like, DUF1088
This domain is found in the neurobeachins (NBEAs) and BEACH domain containing proteins (BDCPs). NBEAS are localised 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.
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Statistics
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PSSM-Id: 517289
Aligned: 4 rows
Threshold Bit Score: 285.301
Created: 14-Feb-2025
Updated: 28-Apr-2025
Structure
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Aligned Rows:
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PubMed ReferencesClick to see Conserved Features Help
Sequence Alignment
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Format: Row Display: Color Bits: Type Selection: 
A8XSV3       1534 EGRLMAHATRDHVLRVANEADFILNRLRAEDVSKHAQFEAESREQLNARYEEYSRCDLLIVSGRLRDSLNATRLLDKMSA 1613 Caenorhabditi...
2_pfamImport    1 EGRLLCHAMKDHIVRVANEAEFILNRQRAEDVHKHAEFESSCAQYAADRKEEEKMCDHLISAAKHRDHVTANQLKQKIVN 80  
1_pfamImport    1 EGRLLCHAMKDHVVRVANEAEFILNRQRAEDVHKHAEFESHCSQYAADRREEEKMCDHLITAAKRRDHVTANQLKQKIVN 80  
3_pfamImport    1 EGRLLSHAMKDHIVRVANEAEFILNRMRADDVLKHADFESQCAQTLLDRREEERMCDHLITAARRRDNVIAGRLLEKICN 80  

A8XSV3       1614 ILTDgddsKSGS------------QFWKLDVWEDDSRRRKRFVPNPYGSRHEEANLPEGEKNEEPEiseqERIRKILKGL 1681 Caenorhabditi...
2_pfamImport   81 ILTN----KHGAwgipc--qsqlhDFWRLDYWEDDLRRRRRFVRNPFGSTHLDIACKSSQEYALKE----EKVVKSKLVF 150 
1_pfamImport   81 ILTN----KHGAwgmps--qsrlqDFWRLDYWEDDLRRRRRFVRNPYGSTHLDVACKSLQEYGECN----ISVVKSKLVF 150 
3_pfamImport   81 ILSN----KHGAwgyvdpassklsEFWKLDAWEDDARRRKRLVHNPRGSSHPQATLKAAIEHGAPD----DAILQARNEF 152 

A8XSV3       1682 FSQRHATTTSTg-gQELVDES 1701 Caenorhabditis briggsae
2_pfamImport  151 RSPTLASQNPE---TELVLDG 168 
1_pfamImport  151 RNPVVPIQNPE---TELILDG 168 
3_pfamImport  153 HAQLAASYSQQvqsTDLLDDG 173
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