Human Gene GABRP (ENST00000518525.5) from GENCODE V44
  Description: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. (from UniProt O00591)
RefSeq Summary (NM_014211): The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. The subunit encoded by this gene is expressed in several non-neuronal tissues including the uterus and ovaries. This subunit can assemble with known GABA A receptor subunits, and the presence of this subunit alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].
Gencode Transcript: ENST00000518525.5
Gencode Gene: ENSG00000094755.17
Transcript (Including UTRs)
   Position: hg38 chr5:170,782,682-170,814,047 Size: 31,366 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr5:170,788,616-170,812,258 Size: 23,643 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:170,782,682-170,814,047)mRNA (may differ from genome)Protein (440 aa)
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GBRP_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit pi; AltName: Full=GABA(A) receptor subunit pi; Flags: Precursor;
FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone.
SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex.
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Most abundant in the uterus, also expressed in lung, thymus and prostate.
SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub-subfamily.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.95 RPKM in Minor Salivary Gland
Total median expression: 70.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -161.30464-0.348 Picture PostScript Text
3' UTR -433.971789-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR008100 - GABAAp_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

ModBase Predicted Comparative 3D Structure on O00591
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007165 signal transduction
GO:0034220 ion transmembrane transport
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex


-  Descriptions from all associated GenBank mRNAs
  AK055205 - Homo sapiens cDNA FLJ30643 fis, clone CTONG2003782, highly similar to Gamma-aminobutyric-acid receptor pi subunit precursor.
AK296805 - Homo sapiens cDNA FLJ57389 complete cds, highly similar to Gamma-aminobutyric-acid receptor pi subunit precursor.
AK300303 - Homo sapiens cDNA FLJ58477 complete cds, highly similar to Gamma-aminobutyric-acid receptor pi subunit precursor.
AK292901 - Homo sapiens cDNA FLJ75397 complete cds, highly similar to Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.
U95367 - Human GABA-A receptor pi subunit mRNA, complete cds.
BC109105 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi, mRNA (cDNA clone MGC:126386 IMAGE:40035263), complete cds.
BC109106 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi, mRNA (cDNA clone MGC:126387 IMAGE:40035265), complete cds.
JD214951 - Sequence 195975 from Patent EP1572962.
JD108808 - Sequence 89832 from Patent EP1572962.
BC074810 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi, mRNA (cDNA clone MGC:104080 IMAGE:30915531), complete cds.
BC074865 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi, mRNA (cDNA clone MGC:103848 IMAGE:30915230), complete cds.
JD532005 - Sequence 513029 from Patent EP1572962.
JD177087 - Sequence 158111 from Patent EP1572962.
KJ896853 - Synthetic construct Homo sapiens clone ccsbBroadEn_06247 GABRP gene, encodes complete protein.
JD250908 - Sequence 231932 from Patent EP1572962.
JD072705 - Sequence 53729 from Patent EP1572962.
JD493547 - Sequence 474571 from Patent EP1572962.
JD358216 - Sequence 339240 from Patent EP1572962.
JD502852 - Sequence 483876 from Patent EP1572962.
JD490831 - Sequence 471855 from Patent EP1572962.
JD063465 - Sequence 44489 from Patent EP1572962.
JD227773 - Sequence 208797 from Patent EP1572962.
JD527612 - Sequence 508636 from Patent EP1572962.
JD301545 - Sequence 282569 from Patent EP1572962.
JD360692 - Sequence 341716 from Patent EP1572962.
JD521473 - Sequence 502497 from Patent EP1572962.
JD148689 - Sequence 129713 from Patent EP1572962.
JD385072 - Sequence 366096 from Patent EP1572962.
JD200990 - Sequence 182014 from Patent EP1572962.
JD256112 - Sequence 237136 from Patent EP1572962.
JD040734 - Sequence 21758 from Patent EP1572962.
JD177598 - Sequence 158622 from Patent EP1572962.
JD318626 - Sequence 299650 from Patent EP1572962.
JD509732 - Sequence 490756 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

-  Other Names for This Gene
  Alternate Gene Symbols: A8KA36, D3DQL2, ENST00000518525.1, ENST00000518525.2, ENST00000518525.3, ENST00000518525.4, GBRP_HUMAN, O00591, Q32MJ1, U95367, uc003mau.1, uc003mau.2, uc003mau.3, uc003mau.4
UCSC ID: ENST00000518525.5
RefSeq Accession: NM_014211
Protein: O00591 (aka GBRP_HUMAN or GAAP_HUMAN)
CCDS: CCDS4375.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.