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GABBR1 gamma-aminobutyric acid type B receptor subunit 1 [ Homo sapiens (human) ]

Gene ID: 2550, updated on 1-Aug-2020

Summary

Official Symbol
GABBR1provided by HGNC
Official Full Name
gamma-aminobutyric acid type B receptor subunit 1provided by HGNC
Primary source
HGNC:HGNC:4070
See related
Ensembl:ENSG00000204681 MIM:603540
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GB1; GPRC3A; GABABR1; GABBR1-3
Summary
This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
Expression
Broad expression in brain (RPKM 72.0), spleen (RPKM 14.7) and 15 other tissues See more
Orthologs

Genomic context

See GABBR1 in Genome Data Viewer
Location:
6p22.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (29602228..29633183, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29570005..29600962, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L13a pseudogene Neighboring gene olfactory receptor family 2 subfamily H member 2 Neighboring gene SUMO2 pseudogene 1 Neighboring gene myelin oligodendrocyte glycoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ92613

Gene Ontology Provided by GOA

Component Evidence Code Pubs
G protein-coupled receptor heterodimeric complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G protein-coupled receptor heterodimeric complex IPI
Inferred from Physical Interaction
more info
PubMed 
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gamma-aminobutyric acid type B receptor subunit 1
Names
GABA-B receptor, R1 subunit
gamma-aminobutyric acid (GABA) B receptor, 1
seven transmembrane helix receptor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029101.1 RefSeqGene

    Range
    5003..35948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319053.1NP_001305982.1  gamma-aminobutyric acid type B receptor subunit 1 isoform k

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and initiates translation at a downstream start codon compared to variant 1. It encodes isoform k which has a shorter N-terminus than isoform a.
    Source sequence(s)
    AB208790, AJ225028, AL539611
    UniProtKB/Swiss-Prot
    Q9UBS5
    UniProtKB/TrEMBL
    Q59HG8
    Conserved Domains (3) summary
    cd06366
    Location:1386
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam10211
    Location:705750
    Ax_dynein_light; Axonemal dynein light chain
    cd15291
    Location:413685
    7tmC_GABA-B-R1; gamma-aminobutyric acid type B receptor subunit 1, member of the class C family of seven-transmembrane G protein-coupled receptors
  2. NM_001470.4NP_001461.1  gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor

    See identical proteins and their annotated locations for NP_001461.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB208790, AJ225028, AL539611, AL645936
    Consensus CDS
    CCDS4663.1
    UniProtKB/Swiss-Prot
    Q9UBS5
    UniProtKB/TrEMBL
    A0A1U9X7R0, Q59HG8
    Related
    ENSP00000366233.4, ENST00000377034.9
    Conserved Domains (4) summary
    cd06366
    Location:171563
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00084
    Location:107157
    Sushi; Sushi repeat (SCR repeat)
    pfam10211
    Location:882927
    Ax_dynein_light; Axonemal dynein light chain
    cd15291
    Location:590862
    7tmC_GABA-B-R1; gamma-aminobutyric acid type B receptor subunit 1, member of the class C family of seven-transmembrane G protein-coupled receptors
  3. NM_021903.2NP_068703.1  gamma-aminobutyric acid type B receptor subunit 1 isoform b precursor

    See identical proteins and their annotated locations for NP_068703.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks several exons in the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. It encodes isoform b which has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AJ225028, BC041332, BC042598, DA112662
    Consensus CDS
    CCDS4665.1
    UniProtKB/Swiss-Prot
    Q9UBS5
    UniProtKB/TrEMBL
    Q5SUJ9, Q8IW08
    Related
    ENSP00000366211.4, ENST00000377012.8
    Conserved Domains (5) summary
    cd06366
    Location:54446
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00003
    Location:486740
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:70426
    ANF_receptor; Receptor family ligand binding region
    pfam10211
    Location:768810
    Ax_dynein_light; Axonemal dynein light chain
    pfam16643
    Location:805829
    cNMPbd_u2; Unstructured region on cNMP-binding protein
  4. NM_021904.3NP_068704.2  gamma-aminobutyric acid type B receptor subunit 1 isoform c precursor

    See identical proteins and their annotated locations for NP_068704.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region compared to variant 1. It encodes isoform c which is shorter than isoform a.
    Source sequence(s)
    AB208790, AJ012187, AJ225028, AL539611
    Consensus CDS
    CCDS4664.1
    UniProtKB/Swiss-Prot
    Q9UBS5
    UniProtKB/TrEMBL
    Q59HG8
    Related
    ENSP00000366215.4, ENST00000377016.8
    Conserved Domains (3) summary
    cd06366
    Location:109501
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam10211
    Location:820865
    Ax_dynein_light; Axonemal dynein light chain
    cd15291
    Location:528800
    7tmC_GABA-B-R1; gamma-aminobutyric acid type B receptor subunit 1, member of the class C family of seven-transmembrane G protein-coupled receptors

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    29602228..29633183 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248982.2XP_005249039.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_005249039.1

    Conserved Domains (6) summary
    cd06366
    Location:176568
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00003
    Location:608862
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam00084
    Location:112162
    Sushi; Sushi repeat (SCR repeat)
    pfam01094
    Location:192548
    ANF_receptor; Receptor family ligand binding region
    pfam10211
    Location:890932
    Ax_dynein_light; Axonemal dynein light chain
    pfam16643
    Location:927951
    cNMPbd_u2; Unstructured region on cNMP-binding protein
  2. XM_011514453.3XP_011512755.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

    See identical proteins and their annotated locations for XP_011512755.1

    Conserved Domains (5) summary
    cd06366
    Location:107499
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00003
    Location:539793
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:123479
    ANF_receptor; Receptor family ligand binding region
    pfam10211
    Location:821863
    Ax_dynein_light; Axonemal dynein light chain
    pfam16643
    Location:858882
    cNMPbd_u2; Unstructured region on cNMP-binding protein
  3. XM_006715047.4XP_006715110.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

    See identical proteins and their annotated locations for XP_006715110.1

    Conserved Domains (5) summary
    cd06366
    Location:114506
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00003
    Location:546800
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam01094
    Location:130486
    ANF_receptor; Receptor family ligand binding region
    pfam10211
    Location:828870
    Ax_dynein_light; Axonemal dynein light chain
    pfam16643
    Location:865889
    cNMPbd_u2; Unstructured region on cNMP-binding protein
  4. XM_024446392.1XP_024302160.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

    Conserved Domains (3) summary
    cd06366
    Location:37380
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam10211
    Location:699744
    Ax_dynein_light; Axonemal dynein light chain
    cd15291
    Location:407679
    7tmC_GABA-B-R1; gamma-aminobutyric acid type B receptor subunit 1, member of the class C family of seven-transmembrane G protein-coupled receptors
  5. XM_011514455.1XP_011512757.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

    See identical proteins and their annotated locations for XP_011512757.1

    Related
    ENSP00000366176.3, ENST00000376977.7
    Conserved Domains (4) summary
    cd06366
    Location:176568
    PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
    pfam00003
    Location:608677
    7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
    pfam00084
    Location:112162
    Sushi; Sushi repeat (SCR repeat)
    pfam01094
    Location:192548
    ANF_receptor; Receptor family ligand binding region

RNA

  1. XR_001743302.1 RNA Sequence

  2. XR_001743303.1 RNA Sequence

    Related
    ENST00000491829.5

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_167244.2 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    867953..898900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    1088708..1119664 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p13 ALT_REF_LOCI_3

    Range
    867777..898733 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p13 ALT_REF_LOCI_4

    Range
    867409..898332 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p13 ALT_REF_LOCI_5

    Range
    867623..898576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p13 ALT_REF_LOCI_6

    Range
    867740..898696 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p13 ALT_REF_LOCI_7

    Range
    941945..942223 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021905.2: Suppressed sequence

    Description
    NM_021905.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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