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    GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1 [ Homo sapiens ]

    Gene ID: 2550, updated on 19-May-2012

    Summary

    Official Symbol
    GABBR1provided by HGNC
    Official Full Name
    gamma-aminobutyric acid (GABA) B receptor, 1provided by HGNC
    Primary source
    HGNC:4070
    Locus tag
    DAAP-188P13.3
    See related
    Ensembl:ENSG00000204681; HPRD:04644; MIM:603540; Vega:OTTHUMG00000031095
    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; dJ271M21.1.1; dJ271M21.1.2; FLJ92613
    Summary
    Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the mammalian central nervous system. GABA exerts its effects through ionotropic [GABA(A/C)] receptors, to produce fast synaptic inhibition, and metabotropic [GABA(B)] receptors, to produce slow, prolonged inhibitory signals. The GABA(B) receptor consists of a heterodimer of two related 7-transmembrane receptors, GABA(B) receptor 1 and GABA(B) receptor 2. The GABA(B) receptor 1 gene is mapped to chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have also been mapped in this region. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jun 2009]

    Genomic context

    Location :
    6p21.31
    Sequence :
    Chromosome: 6; NC_000006.11 (29570005..29600962, complement)
    See GABBR1 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L13a pseudogene Neighboring gene olfactory receptor, family 2, subfamily H, member 2 Neighboring gene SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) pseudogene 1 Neighboring gene myelin oligodendrocyte glycoprotein

    Genomic regions, transcripts, and products

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UBS5 Q9Y2D1 ATF5    HPRD  PubMed  
    Q9UBS5 Checkpoint protein with FHA and ring finger domains CHFR    HPRD  PubMed  
    Q9UBS5 O75899 GABBR2    HPRD  PubMed  
    Q9UBS5 Janus kinase and microtubule interacting protein 1 JAKMIP1    HPRD  PubMed  
    Q9UBS5 P46459 NSF    HPRD  PubMed  
    Q9UBS5 P63104 YWHAZ    HPRD  PubMed  
    BioGRID:108825 BioGRID:106958 ATF4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108825 BioGRID:116487 ATF5    BioGRID  PubMed Two-hybrid 
    NP_005449.5 GABBR2    BIND  PubMed GB1 interacts with GB2. 
    BioGRID:108825 BioGRID:114938 GABBR2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108825 BioGRID:127465 JAKMIP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108825 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Activation of G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
      Activation of G protein gated Potassium channels, organism-specific biosystemActivation of Kir 3 channels occurs after binding of G beta gamma subunits of GPCR. Activation of Kir3/GIRK leads to K+ efflux. The dissociation of GPCR into G alpha and G beta gamma subunits is acti...
    • Activation of GABAB receptors, organism-specific biosystem (from REACTOME)
      Activation of GABAB receptors, organism-specific biosystemGABA B receptors are metabotropic receptors that are functionally linked to C type G protein coupled receptors.? GABA B receptors are activated upon ligand binding. The GABA B1 subunit binds ligand a...
    • Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystem (from REACTOME)
      Class C/3 (Metabotropic glutamate/pheromone receptors), organism-specific biosystemThe class C G-protein-coupled receptors are a class of G-protein coupled receptors that include the metabotropic glutamate receptors and several additional receptors (Bräuner-Osborne H et al, 2007)....
    • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
      G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
    • G protein gated Potassium channels, organism-specific biosystem (from REACTOME)
      G protein gated Potassium channels, organism-specific biosystemInwardly rectifying G protein activated K+ channels (GIRK) are tetrameric assemblies of Ki3 3 family subunits (Kir 3.1, 3.2 3.3 and 3.4). The activation of G protein coupled receptor by ligand result...
    • GABA B receptor activation, organism-specific biosystem (from REACTOME)
      GABA B receptor activation, organism-specific biosystemFunctional GABA B receptors are heteromers of GABA B1 and B2 subunits, complexed with G protein alpha-i, 0, beta, and gamma subunits. They function as metabotropic receptors. When GABA is bound to th...
    • GABA receptor activation, organism-specific biosystem (from REACTOME)
      GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
      GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystem (from WikiPathways)
      GPCRs, Class C Metabotropic glutamate, pheromone, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
    • Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystem (from REACTOME)
      Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits, organism-specific biosystemGABA B receptors are coupled to Gproteins and function by increasing the K+ and decreasing the Ca2+ inside the cell. The increase in K+ increases the negative membrane potential of the cell thereby h...
    • Inwardly rectifying K+ channels, organism-specific biosystem (from REACTOME)
      Inwardly rectifying K+ channels, organism-specific biosystemInwardly rectifying K+ channels (Kir channels) show an inward rather than outward (like the voltage gated K+ channels) flow of K+ thereby contributing to maintenance of resting membrane potential an...
    • Morphine addiction, organism-specific biosystem (from KEGG)
      Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Morphine addiction, conserved biosystem (from KEGG)
      Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
    • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, organism-specific biosystem
      Neuroactive ligand-receptor interaction
    • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
      Neuroactive ligand-receptor interaction, conserved biosystem
      Neuroactive ligand-receptor interaction
    • Neuronal System, organism-specific biosystem (from REACTOME)
      Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
    • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
      Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
    • Potassium Channels, organism-specific biosystem (from REACTOME)
      Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
      Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    G-protein coupled GABA receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    signal transducer activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    gamma-aminobutyric acid signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of adenylate cyclase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dopamine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of epinephrine secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gamma-aminobutyric acid secretion IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of growth hormone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cAMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of glutamate secretion IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    response to nicotine IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic transmission TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    axolemma IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    microsome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    soluble fraction IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    synaptosome IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gamma-aminobutyric acid type B receptor subunit 1
    Names
    gamma-aminobutyric acid type B receptor subunit 1
    GABA-BR1
    GABAB, subunit 1c
    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
      5001..35958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001470.2NP_001461.1  gamma-aminobutyric acid type B receptor subunit 1 isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AJ012288, AJ225028, DA400111
      Consensus CDS
      CCDS4663.1
      UniProtKB/Swiss-Prot
      Q9UBS5
      Related
      ENSP00000366233, OTTHUMP00000029114, ENST00000377034, OTTHUMT00000076141
      Conserved Domains (4) summary
      cd06366
      Location:171563
      Blast Score: 1086
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      cd00033
      Location:106158
      Blast Score: 121
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam00003
      Location:614860
      Blast Score: 223
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:187543
      Blast Score: 612
      ANF_receptor; Receptor family ligand binding region
    2. NM_021903.2NP_068703.1  gamma-aminobutyric acid type B receptor subunit 1 isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four 5' exons and uses an alternative 5' exon, as compared to variant 1. It encodes isoform b which has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AJ225028, BC041332, BC042598, DA112662
      Consensus CDS
      CCDS4665.1
      UniProtKB/TrEMBL
      Q5SUJ9
      UniProtKB/TrEMBL
      Q8IW08
      UniProtKB/Swiss-Prot
      Q9UBS5
      Related
      ENSP00000366211, OTTHUMP00000029115, ENST00000377012, OTTHUMT00000076142
      Conserved Domains (3) summary
      cd06366
      Location:54446
      Blast Score: 1073
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00003
      Location:497743
      Blast Score: 217
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:70426
      Blast Score: 601
      ANF_receptor; Receptor family ligand binding region
    3. NM_021904.2NP_068704.2  gamma-aminobutyric acid type B receptor subunit 1 isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, compared to variant 1. It encodes isoform c which is shorter than isoform a.
      Source sequence(s)
      AJ012187, AJ225028, DA400111
      Consensus CDS
      CCDS4664.1
      UniProtKB/Swiss-Prot
      Q9UBS5
      Related
      ENSP00000366215, OTTHUMP00000029116, ENST00000377016, OTTHUMT00000076143
      Conserved Domains (3) summary
      cd06366
      Location:109501
      Blast Score: 1082
      PBP1_GABAb_receptor; Ligand-binding domain of GABAb receptors, which are metabotropic transmembrane receptors for gamma-aminobutyric acid (GABA)
      pfam00003
      Location:552798
      Blast Score: 223
      7tm_3; 7 transmembrane sweet-taste receptor of 3 GCPR
      pfam01094
      Location:125481
      Blast Score: 608
      ANF_receptor; Receptor family ligand binding region

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      29570005..29600962, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.1 Reference GRCh37.p5 ALT_REF_LOCI_1

      Range
      873547..904496, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p5 ALT_REF_LOCI_2

      Range
      1088814..1119772, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p5 ALT_REF_LOCI_3

      Range
      873362..904320, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p5 ALT_REF_LOCI_4

      Range
      873029..903954, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p5 ALT_REF_LOCI_5

      Range
      873208..904163, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p5 ALT_REF_LOCI_6

      Range
      873336..904294, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      29377091..29408050, 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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB065476.1 BAC05730.1
    genomic AJ010170.1 CAA09031.1
    genomic AJ010171.1 None
    genomic AJ010172.1 None
    genomic AJ010173.1 None
    genomic AJ010174.1 None
    genomic AJ010175.1 None
    genomic AJ010176.1 None
    genomic AJ010177.1 None
    genomic AJ010178.1 None
    genomic AJ010179.1 None
    genomic AJ010180.1 None
    genomic AJ010181.1 None
    genomic AJ010182.1 None
    genomic AJ010183.1 None
    genomic AJ010184.1 None
    genomic AJ010185.1 None
    genomic AJ010186.1 None
    genomic AJ010187.1 None
    genomic AJ010188.1 None
    genomic AJ010189.1 None
    genomic AJ010190.1 None
    genomic AJ010191.1 None
    genomic AL031983.2 CAA21453.1
      CAA21454.1
    genomic AL645936.5 (53212..84169) None
    genomic AL662826.11 (76340..107298) None
    genomic BX000688.11 CAI18604.1
      CAI18605.1
      CAI18606.1
    genomic CH471081.1 EAX03205.1
      EAX03206.1
      EAX03207.1
      EAX03208.1
      EAX03209.1
      EAX03210.1
      EAX03211.1
      EAX03212.1
    genomic CR388210.7 CAQ09394.1
    genomic CR759766.5 CAQ06608.1
      CAQ06609.1
      CAQ06610.1
    genomic CR759870.6 CAQ09877.1
      CAQ09878.1
      CAQ09879.1
    genomic CR759870.6 CAQ09877.1
      CAQ09878.1
      CAQ09879.1
    genomic CR788300.6 CAQ07761.1
      CAQ07763.1
      CAQ07764.1
    genomic CR936483.10 CAQ10081.1
      CAQ10082.1
      CAQ10083.1
    genomic CS059177.1 CAI79356.1
    mRNA AB208790.1 BAD92027.1
    mRNA AF099148.1 AAC98508.1
    mRNA AF301005.1 AAG23962.1
    mRNA AJ012185.1 CAA09939.1
    mRNA AJ012186.1 CAA09940.1
    mRNA AJ012187.1 CAA09941.1
    mRNA AJ012288.1 CAA09980.1
    mRNA AJ225028.1 CAA12359.1
    mRNA AJ225029.1 CAA12360.1
    mRNA AK223619.1 BAD97339.1
    mRNA AK290191.1 BAF82880.1
    mRNA AK312308.1 BAG35233.1
    mRNA BC023336.1 None
    mRNA BC041332.2 AAH41332.1
    mRNA BC042598.1 AAH42598.1
    mRNA BC050532.1 AAH50532.2
    mRNA DA112662.1 None
    mRNA DA400111.1 None
    mRNA Y11044.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53EM0 GenPept UniProtKB/TrEMBL:Q53EM0
    Q59HG8 GenPept UniProtKB/TrEMBL:Q59HG8
    Q5SUJ9 GenPept UniProtKB/TrEMBL:Q5SUJ9
    Q71SG6 GenPept UniProtKB/TrEMBL:Q71SG6
    Q8IW08 GenPept UniProtKB/TrEMBL:Q8IW08
    Q8NHA5 GenPept UniProtKB/TrEMBL:Q8NHA5
    Q9UBS5.1 GenPept UniProtKB/Swiss-Prot:Q9UBS5

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