Protein Details: Gamma-aminobutyric acid receptor subunit rho-1

Protein ID

ICDB_Pro_0429

Protein Name

Gamma-aminobutyric acid receptor subunit rho-1

Gene Name

GABRR1

Organism

Homo sapiens (Human)

Length

479 amino acids

AlphaFoldDB

AF-P24046-F1-model_v4.pdb

Function

Rho subunit of the pentameric ligand-gated chloride channels responsible for mediating the effects of gamma-aminobutyric acid (GABA);the major inhibitory neurotransmitter in the brain. Rho-containing GABA-gated chloride channels are a subclass of GABA(A) receptors (GABAARs) entirely composed of rho subunits;where GABA molecules bind at the rho intersubunit interfaces. When activated by GABA;rho-GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient. Rho-1 subunits are primarily expressed in retina where rho-1-containing GABAARs may play a role in retinal neurotransmission. Rho-1 GABAARs are also involved in neuronal tonic (extrasynaptic) and phasic (synaptic) transmission in the Purkinje neurons of the cerebellum (By similarity). Rho-1 GABAARs may also contribute to the regulation of glial development in the cerebellum by controlling extrasynaptic transmission (By similarity).

Sequence

MLAVPNMRFGIFLLWWGWVLATESRMHWPGREVHEMSKKGRPQRQRREVHEDAHKQVSPILRRSPDITKSPLTKSEQLLRIDDHDFSMRPGFGGPAIPVGVDVQVESLDSISEVDMDFTMTLYLRHYWKDERLSFPSTNNLSMTFDGRLVKKIWVPDMFFVHSKRSFIHDTTTDNVMLRVQPDGKVLYSLRVTVTAMCNMDFSRFPLDTQTCSLEIESYAYTEDDLMLYWKKGNDSLKTDERISLSQFLIQEFHTTTKLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMVMLSWVSFWIDRRAVPARVPLGITTVLTMSTIITGVNASMPRVSYIKAVDIYLWVSFVFVFLSVLEYAAVNYLTTVQERKEQKLREKLPCTSGLPPPRTAMLDGNYSDGEVNDLDNYMPENGEKPDRMMVQLTLASERSSPQRKSQRSSYVSMRIDTHAIDKYSRIIFPAAYILFNLIYWSIFS

PDB Structures

8OP9 8OQ6 8OQ7 8OQ8 8OQA

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

BINDING 125; /ligand="4-aminobutanoate": "ligand shared between two neighboring rho subunits"; /note="in chain A"; /evidence="ECO:0000269|PubMed:37659407;ECO:0007744|PDB:8OP9"; BINDING 189; /ligand="4-aminobutanoate": "ligand shared between two neighboring rho subunits"; /note="in chain A"; /evidence="ECO:0000269|PubMed:37659407;ECO:0007744|PDB:8OP9"; BINDING 217; /ligand="4-aminobutanoate": "ligand shared between two neighboring rho subunits"; /note="in chain B"; /evidence="ECO:0000269|PubMed:37659407;ECO:0007744|PDB:8OP9"

Disease

Epilepsy and Autism Spectrum Disorder

Location

Highly expressed in the retina (PubMed:1849271). Expressed in a lesser extent in brain;lung and thymus (PubMed:1849271).

DOI ID

10.1073/pnas.88.7.2673; 10.1038/ng1285; 10.1038/nature02055; 10.1101/gr.2596504; 10.1016/j.neuron.2023.08.006

RefSeq

NP_001243632.1 [P24046-2]; NP_001243633.1 [P24046-3]; NP_001254511.1 [P24046-3]; NP_002033.2 [P24046-1]; XP_016866178.1 [P24046-3]