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

    Gene ID: 2550, updated on 10-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:4070
    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; NEDLC; 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
    mouse all
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    Genomic context

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    See GABBR1 in Genome Data Viewer
    Location:
    6p22.1
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (29602238..29633183, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (29476949..29507887, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (29570015..29600960, 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 NANOG hESC enhancer GRCh37_chr6:29562576-29563083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:29589456-29590006 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:29590007-29590556 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:29592149-29592734 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:29596552-29597357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:29598769-29599270 Neighboring gene SUMO2 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:29610193-29610692 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:29616349-29616969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:29622853-29623353 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:29627633-29628069 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29628451-29629365 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29629366-29630280 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:29630281-29631194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:29634045-29634654 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:29634655-29635264 Neighboring gene myelin oligodendrocyte glycoprotein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Direct detection of the interaction between recombinant soluble extracellular regions in the heterodimeric metabotropic gamma-aminobutyric acid receptor. Nomura R, et al. J Biol Chem, 2008 Feb 22. PMID 18165688
    2. Evidence for the gamma-amino-butyric acid type B receptor 1 (GABBR1) gene as a susceptibility factor in obsessive-compulsive disorder. Zai G, et al. Am J Med Genet B Neuropsychiatr Genet, 2005 Apr 5. PMID 15685626
    3. Changes in hippocampal GABABR1 subunit expression in Alzheimer's patients: association with Braak staging. Iwakiri M, et al. Acta Neuropathol, 2005 May. PMID 15759131
    4. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. Ma S, et al. BMC Med Genet, 2005 Mar 30. PMID 15799783, Free PMC Article
    5. Possible association between the gamma-aminobutyric acid type B receptor 1 (GABBR1) gene and schizophrenia. Zai G, et al. Eur Neuropsychopharmacol, 2005 May. PMID 15820424

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
      Title: GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
    2. Phosphonate-Modified Cellulose Nanocrystals Potentiate the Th1 Polarising Capacity of Monocyte-Derived Dendritic Cells via GABA-B Receptor.
      Title: Phosphonate-Modified Cellulose Nanocrystals Potentiate the Th1 Polarising Capacity of Monocyte-Derived Dendritic Cells via GABA-B Receptor.
    3. Adipose-derived stem cell-derived extracellular vesicles inhibit neuroblastoma growth by regulating GABBR1 activity through LINC00622-mediated transcription factor AR.
      Title: Adipose-derived stem cell-derived extracellular vesicles inhibit neuroblastoma growth by regulating GABBR1 activity through LINC00622-mediated transcription factor AR.
    4. The neurotransmitter receptor Gabbr1 regulates proliferation and function of hematopoietic stem and progenitor cells.
      Title: The neurotransmitter receptor Gabbr1 regulates proliferation and function of hematopoietic stem and progenitor cells.
    5. Structural Basis for Activation of the Heterodimeric GABAB Receptor.
      Title: Structural Basis for Activation of the Heterodimeric GABA(B) Receptor.
    6. Structure of human GABAB receptor in an inactive state.
      Title: Structure of human GABA(B) receptor in an inactive state.
    7. Structures of metabotropic GABAB receptor.
      Title: Structures of metabotropic GABA(B) receptor.
    8. Structural basis of the activation of a metabotropic GABA receptor.
      Title: Structural basis of the activation of a metabotropic GABA receptor.
    9. In a Chinese population, the C allele frequency of rs715044 of the GABBR1 gene was associated with methamphetamine use disorder.
      Title: Variants in GABBR1 Gene Are Associated with Methamphetamine Dependence and Two Years' Relapse after Drug Rehabilitation.
    10. GABA B receptor expression in myometrium
      Title: Profiling of GABA(A) and GABA(B) receptor expression in the myometrium of the human uterus.
    Submit: New GeneRIF Correction See all GeneRIFs (81)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with language delay and variable cognitive abnormalities
    MedGen: C5882689 OMIM: 620502 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ92613

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to G protein-coupled GABA receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables G protein-coupled GABA receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables G protein-coupled GABA receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in gamma-aminobutyric acid signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in gamma-aminobutyric acid signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neuron-glial cell signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of postsynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of presynaptic membrane potential IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synaptic transmission, GABAergic NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of G protein-coupled GABA receptor complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of G protein-coupled receptor heterodimeric complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of G protein-coupled receptor heterodimeric complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)

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    NEW Try the new Transcript table

    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_001319053.2 → NP_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, AL645936
      UniProtKB/TrEMBL
      Q59HG8
      Conserved Domains (3) summary
      cd15291
      Location:413 → 685
      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
      pfam10211
      Location:708 → 750
      Ax_dynein_light; Axonemal dynein light chain
      cd06366
      Location:2 → 393
      PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)

    2. NM_001470.4 → NP_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
      B0UXY7, O95375, O95468, O95975, O96022, Q5STL4, Q5SUJ8, Q5SUL3, Q71SG6, Q86W60, Q9UBS5, Q9UQQ0
      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R0, A0A1U9X7R1
      Related
      ENSP00000366233.4, ENST00000377034.9
      Conserved Domains (4) summary
      cd00033
      Location:106 → 158
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      cd15291
      Location:590 → 862
      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
      pfam10211
      Location:885 → 927
      Ax_dynein_light; Axonemal dynein light chain
      cd06366
      Location:171 → 570
      PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)

    3. NM_021903.3 → NP_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/TrEMBL
      Q53EM0, Q5SUJ9, Q8IW08
      Related
      ENSP00000366211.4, ENST00000377012.9
      Conserved Domains (5) summary
      cd06366
      Location:54 → 446
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00003
      Location:486 → 740
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:70 → 426
      ANF_receptor; Receptor family ligand binding region
      pfam10211
      Location:768 → 810
      Ax_dynein_light; Axonemal dynein light chain
      pfam16643
      Location:805 → 829
      cNMPbd_u2; Unstructured region on cNMP-binding protein

    4. NM_021904.4 → NP_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, AL645936
      Consensus CDS
      CCDS4664.1
      UniProtKB/TrEMBL
      A0A140T9S4
      Related
      ENSP00000366215.4, ENST00000377016.8
      Conserved Domains (3) summary
      cd15291
      Location:528 → 800
      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
      pfam10211
      Location:823 → 865
      Ax_dynein_light; Axonemal dynein light chain
      cd06366
      Location:109 → 508
      PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      29602238..29633183 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248982.3 → XP_005249039.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_005249039.1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342
      Related
      ENSP00000417332.2, ENST00000476670.3
      Conserved Domains (3) summary
      cd15291
      Location:595 → 867
      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
      cd06366
      Location:176 → 575
      PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00084
      Location:112 → 162
      Sushi; Sushi repeat (SCR repeat)

    2. XM_006715047.5 → XP_006715110.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      See identical proteins and their annotated locations for XP_006715110.1

      UniProtKB/TrEMBL
      A0A140T9S4
      Conserved Domains (3) summary
      cd15291
      Location:533 → 805
      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
      pfam10211
      Location:828 → 870
      Ax_dynein_light; Axonemal dynein light chain
      cd06366
      Location:114 → 513
      PBP1_GABAb_receptor; ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)

    3. XM_011514453.4 → XP_011512755.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_011512755.1

      UniProtKB/TrEMBL
      A0A140T9S4
      Conserved Domains (5) summary
      cd06366
      Location:107 → 499
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00003
      Location:539 → 793
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:123 → 479
      ANF_receptor; Receptor family ligand binding region
      pfam10211
      Location:821 → 863
      Ax_dynein_light; Axonemal dynein light chain
      pfam16643
      Location:858 → 882
      cNMPbd_u2; Unstructured region on cNMP-binding protein

    4. XM_024446392.2 → XP_024302160.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8
      Conserved Domains (3) summary
      cd06366
      Location:37 → 380
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam10211
      Location:699 → 744
      Ax_dynein_light; Axonemal dynein light chain
      cd15291
      Location:407 → 679
      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_047418591.1 → XP_047274547.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_011514455.2 → XP_011512757.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      See identical proteins and their annotated locations for XP_011512757.1

      UniProtKB/TrEMBL
      A0A140TA42
      Conserved Domains (4) summary
      cd06366
      Location:176 → 568
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00003
      Location:608 → 677
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam00084
      Location:112 → 162
      Sushi; Sushi repeat (SCR repeat)
      pfam01094
      Location:192 → 548
      ANF_receptor; Receptor family ligand binding region

    7. XM_047418592.1 → XP_047274548.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_047418593.1 → XP_047274549.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42
      Related
      ENSP00000419061.1, ENST00000494877.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      867963..898900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328454.1 → XP_054184429.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054328456.1 → XP_054184431.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054328455.1 → XP_054184430.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054328458.1 → XP_054184433.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054328457.1 → XP_054184432.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054328459.1 → XP_054184434.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054328460.1 → XP_054184435.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    RNA

    1. XR_008485589.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      1088718..1119664 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329751.1 → XP_054185726.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054329752.1 → XP_054185727.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054329753.1 → XP_054185728.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054329755.1 → XP_054185730.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054329754.1 → XP_054185729.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054329756.1 → XP_054185731.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054329757.1 → XP_054185732.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_054329758.1 → XP_054185733.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      867787..898733 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330243.1 → XP_054186218.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054330244.1 → XP_054186219.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054330245.1 → XP_054186220.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054330247.1 → XP_054186222.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054330246.1 → XP_054186221.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054330248.1 → XP_054186223.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054330249.1 → XP_054186224.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_054330250.1 → XP_054186225.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      867419..898332 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330538.1 → XP_054186513.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X10

      UniProtKB/TrEMBL
      Q59HG8

    2. XM_054330535.1 → XP_054186510.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X9

      UniProtKB/TrEMBL
      A0A0G2JKF9, A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1

    3. XM_054330534.1 → XP_054186509.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1

    4. XM_054330537.1 → XP_054186512.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    5. XM_054330536.1 → XP_054186511.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    6. XM_054330540.1 → XP_054186515.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    7. XM_054330539.1 → XP_054186514.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    8. XM_054330541.1 → XP_054186516.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    9. XM_054330542.1 → XP_054186517.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    RNA

    1. XR_008485698.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      867633..898576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330786.1 → XP_054186761.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054330787.1 → XP_054186762.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054330788.1 → XP_054186763.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054330790.1 → XP_054186765.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054330789.1 → XP_054186764.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054330791.1 → XP_054186766.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054330792.1 → XP_054186767.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_054330793.1 → XP_054186768.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      867750..898696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331023.1 → XP_054186998.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054331024.1 → XP_054186999.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054331025.1 → XP_054187000.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054331027.1 → XP_054187002.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054331026.1 → XP_054187001.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054331028.1 → XP_054187003.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054331029.1 → XP_054187004.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_054331030.1 → XP_054187005.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      29476949..29507887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355056.1 → XP_054211031.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7Q3, A0A1U9X7Q8, A0A1U9X7Q9, A0A1U9X7R1, C9J342

    2. XM_054355058.1 → XP_054211033.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X3

      UniProtKB/TrEMBL
      A0A140T9S4

    3. XM_054355057.1 → XP_054211032.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X2

      UniProtKB/TrEMBL
      A0A140T9S4

    4. XM_054355060.1 → XP_054211035.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X5

      UniProtKB/TrEMBL
      Q59HG8

    5. XM_054355059.1 → XP_054211034.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X4

      UniProtKB/TrEMBL
      Q59HG8

    6. XM_054355061.1 → XP_054211036.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X6

      UniProtKB/TrEMBL
      A0A140TA42

    7. XM_054355062.1 → XP_054211037.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X7

      UniProtKB/TrEMBL
      A0A140TA42

    8. XM_054355063.1 → XP_054211038.1  gamma-aminobutyric acid type B receptor subunit 1 isoform X8

      UniProtKB/TrEMBL
      A0A140TA42

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBS5.1 GenPept UniProtKB/Swiss-Prot:Q9UBS5

    Gene LinkOut

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