Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GABRA5 contributors: mct - updated : 19-12-2017
HGNC name gamma-aminobutyric acid (GABA) A receptor, alpha 5
HGNC id 4079
Location 15q12      Physical location : 27.111.865 - 27.194.356
Synonym symbol(s) alpha5-GABAA R
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text clustered with GABRB3 and GABRG3
STRUCTURE 11.00 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Map cen - D15S1364 - D15S113 - D15S891 -D5S1234 - D15S1365 - D15S540 - D15S740 - GABRG3 - D15S97 - GABRA5 - GABRG3 - D15S822 - D15S975 - D15S156 - D15S219 - APBA2 - (D5S217 - D15S661 ) - D15S737 - D15S12 - D15S931 - qter
Authors Christian (98) Maddox (99) (PEDH/OCA2 partial)
Physical map
HBII-438A 15q11.2 HBII-438A C/D box snoRNA PWCR1 15q11.2 Prader-Willi syndrome chromosome region 1 X102 15q11.2 X102 protein IPW 15q11.2-q12 imprinted in Prader-Willi syndrome PAR1 15q11-q13 imprinted in Prader-Willi syndrome HBII-52 15q11.2 HBII-52 snoRNA PAR4 15q11.2 PAR4 gene HBII-438B 15q11.2 HBII-438B C/D box snoRNA UBE3A 15q11-q12 ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ATP10A 15q11-q13 ATPase, Class V, type 10A MRPS18CP5 15q11.2 mitochondrial ribosomal protein S18C pseudogene 5 GABRB3 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, beta 3 GABRA5 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, alpha 5 LOC390550 15 LOC390550 GABRG3 15q11.2-q12 gamma-aminobutyric acid (GABA) A receptor, gamma 3 OCA2 15q11.2-q12 oculocutaneous albinism II (pink-eye dilution homolog, mouse) LOC388091 15 LOC388091 HERC2 15q13 hect domain and RLD 2 RPL41P2 15q11-q13 ribosomal protein L41, pseudogene 2 LOC390551 15 similar to hect domain and RLD 2 LOC390552 15 similar to hypothetical protein FLJ36144 LOC388092 15 similar to hypothetical protein LOC342156 15q12 similar to ATP-binding cassette, sub-family B, member 10, mitochondrial precursor (ATP-binding cassette transporter 10) (ABC transporter 10 protein) (Mitochondrial ATP-binding cassette 2) (M-ABC2) LOC388093 15 similar to hypothetical protein MGC5244 LOC390553 15 hypothetical gene supported by NM_012089 LOC388094 15 similar to hypothetical protein LOC390554 15 similar to hypothetical protein FLJ36144 LOC388095 15 hypothetical gene supported by NM_004667
RNA
TRANSCRIPTS type messenger
text three alternative first exon (Glatt)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a ligand binding site in the N terminal region,
  • four transmembrane segments (4TM),
  • one of which forming the wall of the channel
  • a large intracellular loop
  • mono polymer pentamer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • gamma-aminobutyric acid (GABA) A receptor, ionotropic, alpha 5, mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
  • modulates the induction of long-term potentiation at ventral but not dorsal CA1 hippocampal synapses
  • likely play a role in the loss of GABAergic inhibition and contribute to long-lasting secondary allodynia and hyperalgesia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of a pentameric receptor mediating inhibitory neurotransmission
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • GABRA5-activity increases during inflammation and this increase is critical for inflammation-induced memory deficits
  • GABRA5 concentrate extrasynaptically through RDX-mediated anchorage at the actin cytoskeleton
  • intimate association of GABRA5 with GPHN, resulting in constant synaptic levels of GABRA5 throughout circuit formation that regulates neuronal development
  • CDK5 cooperates with GABRA5 to regulate neuronal development
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    mapped within the commonly deleted PWS/AS region
    constitutional germinal mutation     loss of function
    in autism-like behaviors
    Susceptibility
  • susceptibility to bipolar affective disorder (? MAFD10)
  • to Panic disorder (PD)
  • Variant & Polymorphism SNP
  • rs2075716, and rs35399885, are associated to PD
  • Candidate gene GABA A-receptor subunit genes are candidate genes for autism (see GABRB3)
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gabra5-null mice and alpha5 subunit((H105R)) knock-in mice exhibit signs of hippocampal dysfunction, but are capable of improved performance in several learning and memory tasks
  • in alpha5(H105R) mice a behavioral-cognitive phenotype affecting basal locomotion and the memory for location of objects indicative of hippocampal dysfunction resulting from moderately decreased alpha5-subunit contents
  • deletion of Gabra5 caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations