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

Gene ID: 2635, updated on 14-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 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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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

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