Conserved Protein Domain Family
LGIC_ECD_GABAAR_rho1

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cd19046: LGIC_ECD_GABAAR_rho1 
extracellular domain of gamma-aminobutyric acid receptor subunit rho-1 (GABA-rho1 or GABRR1)
This family contains extracellular domain (ECD) of the rho subunit 1 of type-A gamma-aminobutyric acid receptor (GABAAR), encoded by the GABRR1 gene, expressed in many areas of the brain, but especially high in the retina. GABRR1 exists next to GABRR2 (encoding rho subunit 2) on the chromosome region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Close proximity of the rho1 and rho2 subunit genes suggests that they emerged via a local duplication event. This subunit homo-oligomerizes to form GABAA-rho receptors (formerly classified as GABA-rho or GABAc receptor), but does not co-assemble with any of the classical GABAAR subunits. In humans, mutations in the GABRR1 gene may be responsible for some cases of autosomal recessive retinitis pigmentosa. Variation in GABRR1 is also associated with susceptibility to bipolar schizoaffective disorder, and may be associated with alcohol dependency.
Statistics
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PSSM-Id: 349847
Aligned: 4 rows
Threshold Bit Score: 360.951
Created: 20-Apr-2018
Updated: 2-Oct-2020
Structure
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Aligned Rows:
 
ligand bindingCys-looppentamer
Feature 1:ligand binding site [chemical binding site]
Evidence:
  • Comment:based on homology to other members of type-A gamma-aminobutyric acid receptor (GABAAR) family

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
Feature 1                #                  #                                                    
P24046        96 AIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFpstNNLSMTFDGRLVKkIWVPDMFFVHsKRSFIHDTTtDN 175 human
XP_015140189   9 AIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFpstNNQSMTFDGRLVKkIWVPDMFFVHsKRSFIHDTTtDN 88 
XP_017949821   9 AIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFpssNNQSMTFDGRLVKkIWVPDMFFVHsKRSFIHDTTtDN 88 
XP_005858459  73 AIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFpstNNLSMTFDGRLVKkIWVPDMFFVHsKRSFIHDTTtEN 152
Feature 1                                                                                        
P24046       176 VMLRVQPDGKVLYSLRVTVTAMCNMDFSrFPLDTQTCSLEIESYAYTEDDLMLYWKKGNdSLKTDERIsLSQFLIQEFHT 255 human
XP_015140189  89 VMLRVQPDGKVLYSLRVTVTAMCNMDFSrFPLDTQTCSLEIESYAYTEDDLMLYWKNGNdSLKTDERIsLSQFLIQEFHT 168
XP_017949821  89 IMLRVQPDGKVLYSLRVTVTAMCNMDFSrFPLDTQSCSLEIESYAYTEDDLMLYWKNGNeSLKTDDRIsLSQFLIQEFHT 168
XP_005858459 153 VMLRVQPDGTVLYSLRVTVTAMCNMDFSrFPLDTQTCSLEIESYAYTEDDLMLYWKKGNdSLKTDERIsLSQFLIQEFHT 232
Feature 1                                  
P24046       256 TTKLAFYSSTGWYNRLYINFTLRRHI 281 human
XP_015140189 169 TTKLAFYSSTGWYNRLYINFTLRRHI 194
XP_017949821 169 TTRLAFYSSTGWYNRLYINFTLRRHI 194
XP_005858459 233 TTKLAFYSSTGWYNRLYINFTLCRHI 258

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