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    GBP3 guanylate binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 2635, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GBP3provided by HGNC
    Official Full Name
    guanylate binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:4184
    See related
    Ensembl:ENSG00000117226 MIM:600413; AllianceGenome:HGNC:4184
    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
    Summary
    This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
    Expression
    Broad expression in duodenum (RPKM 41.6), small intestine (RPKM 35.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GBP3 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89006680..89022866, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (88850078..88866271, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89472363..89488549, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene kynurenine aminotransferase 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:89456881-89457544 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1052 Neighboring gene uncharacterized LOC124904215 Neighboring gene RBMX like 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:89487936-89489135 Neighboring gene NANOG hESC enhancer GRCh37_chr1:89496021-89496522 Neighboring gene uncharacterized LOC105378841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:89516373-89516957 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:89521826-89523025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1295 Neighboring gene guanylate binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 5145 Neighboring gene prostaglandin E synthase 3 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The function of guanylate binding protein 3 (GBP3) in human cancers by pan-cancer bioinformatics. Jiang T, et al. Math Biosci Eng, 2023 Mar 20. PMID 37161254
    2. A new splice variant of the human guanylate-binding protein 3 mediates anti-influenza activity through inhibition of viral transcription and replication. Nordmann A, et al. FASEB J, 2012 Mar. PMID 22106366
    3. GBP3 promotes glioblastoma resistance to temozolomide by enhancing DNA damage repair. Xu H, et al. Oncogene, 2022 Jul. PMID 35780181
    4. The interferon-inducible GBP1 gene: structure and mapping to human chromosome 1. Strehlow I, et al. Gene, 1994 Jul 8. PMID 7518790
    5. A novel GTP-binding protein hGBP3 interacts with NIK/HGK. Luan Z, et al. FEBS Lett, 2002 Oct 23. PMID 12387898

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The function of guanylate binding protein 3 (GBP3) in human cancers by pan-cancer bioinformatics.
      Title: The function of guanylate binding protein 3 (GBP3) in human cancers by pan-cancer bioinformatics.
    2. GBP3 promotes glioblastoma resistance to temozolomide by enhancing DNA damage repair.
      Title: GBP3 promotes glioblastoma resistance to temozolomide by enhancing DNA damage repair.
    3. GBP3 over-expression promotes glioma growth in mice and is inversely correlated with patients survival rate.
      Title: GBP3 promotes glioma cell proliferation via SQSTM1/p62-ERK1/2 axis.
    4. Data show that the novel splice variant of guanylate binding protein 3 hGBP-3, named hGBP-3DeltaC, showed the most prominent antiviral activity in epithelial cells.
      Title: A new splice variant of the human guanylate-binding protein 3 mediates anti-influenza activity through inhibition of viral transcription and replication.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ10961, DKFZp686E0974, DKFZp686L15228

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to interleukin-1 IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to tumor necrosis factor IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in cellular response to type II interferon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytolysis in another organism ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to virus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of pyroptotic inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    guanylate-binding protein 3
    Names
    GTP-binding protein 3
    guanine nucleotide-binding protein 3
    guanylate-binding protein 3 delta C

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001319179.2 → NP_001306108.1  guanylate-binding protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK001823, AK309096, AL160008, BC144650, BP281050, CA450307
      Conserved Domains (3) summary
      pfam02841
      Location:203 → 495
      GBP_C; Guanylate-binding protein, C-terminal domain
      cd16269
      Location:209 → 495
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:1 → 201
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_001319180.2 → NP_001306109.1  guanylate-binding protein 3 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK001823, AK309096, AL160008, BP281050, CA450307
      Conserved Domains (3) summary
      pfam02841
      Location:148 → 440
      GBP_C; Guanylate-binding protein, C-terminal domain
      cd16269
      Location:154 → 440
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:10 → 146
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. NM_001319181.2 → NP_001306110.1  guanylate-binding protein 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL160008, BP281050, JF927951
      UniProtKB/TrEMBL
      Q5D1D5
      Conserved Domains (3) summary
      pfam02841
      Location:282 → 529
      GBP_C; Guanylate-binding protein, C-terminal domain
      pfam02263
      Location:18 → 280
      GBP; Guanylate-binding protein, N-terminal domain
      cd16269
      Location:288 → 529
      GBP_C; Guanylate-binding protein, C-terminal domain

    4. NM_018284.3 → NP_060754.2  guanylate-binding protein 3 isoform 1

      See identical proteins and their annotated locations for NP_060754.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL160008, CR936755, CR936758
      Consensus CDS
      CCDS717.2
      UniProtKB/Swiss-Prot
      A2A317, A6NF86, B2RTW0, F8UW81, Q05D54, Q5T8L8, Q5T8L9, Q6P3V3, Q9H0R5, Q9NV33
      UniProtKB/TrEMBL
      Q5D1D5
      Related
      ENSP00000359512.4, ENST00000370481.9
      Conserved Domains (3) summary
      pfam02841
      Location:282 → 574
      GBP_C; Guanylate-binding protein, C-terminal domain
      pfam02263
      Location:18 → 280
      GBP; Guanylate-binding protein, N-terminal domain
      cd16269
      Location:288 → 574
      GBP_C; Guanylate-binding protein, C-terminal domain

    RNA

    1. NR_135007.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK001823, AK309096, BC063819, BP281050, CA450307
      Related
      ENST00000489444.6

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      89006680..89022866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011541233.2 → XP_011539535.1  guanylate-binding protein 3 isoform X2

      See identical proteins and their annotated locations for XP_011539535.1

      Conserved Domains (3) summary
      pfam02841
      Location:203 → 495
      GBP_C; Guanylate-binding protein, C-terminal domain
      cd16269
      Location:209 → 495
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:1 → 201
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_011541234.3 → XP_011539536.1  guanylate-binding protein 3 isoform X3

      Conserved Domains (3) summary
      pfam02841
      Location:210 → 493
      GBP_C; Guanylate-binding protein, C-terminal domain
      cd16269
      Location:210 → 493
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:18 → 209
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_006710574.4 → XP_006710637.1  guanylate-binding protein 3 isoform X1

      UniProtKB/TrEMBL
      Q5D1D5
      Related
      ENSP00000520850.1, ENST00000850557.1
      Conserved Domains (2) summary
      cd16269
      Location:288 → 547
      GBP_C; Guanylate-binding protein, C-terminal domain
      pfam02263
      Location:18 → 280
      GBP; Guanylate-binding protein, N-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      88850078..88866271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335965.1 → XP_054191940.1  guanylate-binding protein 3 isoform X2

    2. XM_054335966.1 → XP_054191941.1  guanylate-binding protein 3 isoform X3

    3. XM_054335964.1 → XP_054191939.1  guanylate-binding protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0R5.3 GenPept UniProtKB/Swiss-Prot:Q9H0R5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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