GBP3 Gene (Protein Coding)

Guanylate Binding Protein 3

GC01M089006
GIFtS:
39
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... See more...

Aliases for GBP3 Gene

Aliases for GBP3 Gene

  • Guanylate Binding Protein 3 2 3 5
  • Guanine Nucleotide-Binding Protein 3 3 4
  • Guanylate-Binding Protein 3 3 4
  • GTP-Binding Protein 3 3 4
  • Guanylate-Binding Protein 3 Delta C 3
  • EC 3.6.5.- 4
  • FLJ10961 2
  • GBP-3 4
  • GBP3 5

External Ids for GBP3 Gene

Previous GeneCards Identifiers for GBP3 Gene

  • GC00U990115
  • GC01M088642
  • GC01M088808
  • GC01M088939
  • GC01M089184
  • GC01M089244
  • GC01M089472
  • GC01M087589

Summaries for GBP3 Gene

Entrez Gene Summary for GBP3 Gene

  • 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]

GeneCards Summary for GBP3 Gene

GBP3 (Guanylate Binding Protein 3) is a Protein Coding gene. Diseases associated with GBP3 include Retinitis Pigmentosa 7. Among its related pathways are Innate Immune System and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is GBP1.

UniProtKB/Swiss-Prot Summary for GBP3 Gene

Additional gene information for GBP3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GBP3 Gene

Genomics for GBP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GBP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J089020 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 262.5 +0.5 542 2.7 IRF2 CEBPB FOXA2 SMAD4 EP300 PRDM1 BCL6 JUND TBP TAF1 GBP3 ENSG00000202385 ENSG00000286802 lnc-PKN2-1 GBP6 GBP5 PKN2 GBP1 RBMXL1 KYAT3
GH01J088990 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 86.1 +30.3 30337 4 TBP SP1 MNT IKZF1 SMAD5 MBD2 ZNF217 POLR2A BHLHE40 ZEB1 KYAT3 HSALNG0005043 RBMXL1 GBP3 PKN2 ELOCP19 GTF2B GBP5 GBP6 ENSG00000235308
GH01J089043 Enhancer 1 ENCODE dbSUPER 55.4 -22.4 -22403 3.1 CEBPA HOMEZ KDM6A THAP11 FOXA2 SMAD4 SAP130 TAL1 RXRA MIER3 lnc-GBP1-1 GBP3 GBP5 GBP7 RBMXL1 LOC105378841 GBP1 ENSG00000286802 lnc-PKN2-1
GH01J089041 Enhancer 0.9 Ensembl ENCODE 53.8 -18.2 -18206 2.2 SP1 BCL11A CBFB BHLHE40 BATF STAT5A NFATC1 IKZF1 TCF7 MTA3 GBP3 GBP5 lnc-GBP1-1 LOC105378841 ENSG00000286802 lnc-PKN2-1 GBP1
GH01J089001 Enhancer 0.6 FANTOM5 Ensembl 85.5 +20.5 20468 2.4 SMARCA4 RNF2 lnc-PKN2-5 GBP3 GBP7 GBP5 PTGES3P1 LRRC8B GTF2B GBP2 KYAT3 HSALNG0005043
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GBP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GBP3

Top Transcription factor binding sites by QIAGEN in the GBP3 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • E47
  • Hand1
  • LCR-F1

Genomic Locations for GBP3 Gene

Latest Assembly
chr1:89,006,677-89,022,894
(GRCh38/hg38)
Size:
16,218 bases
Orientation:
Minus strand

Previous Assembly
chr1:89,472,363-89,488,549
(GRCh37/hg19 by Entrez Gene)
Size:
16,187 bases
Orientation:
Minus strand

chr1:89,472,349-89,488,577
(GRCh37/hg19 by Ensembl)
Size:
16,229 bases
Orientation:
Minus strand

Genomic View for GBP3 Gene

Genes around GBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBP3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GBP3 Gene

Proteins for GBP3 Gene

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  3. Assay products for research

  • Protein details for GBP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0R5-GBP3_HUMAN
    Recommended name:
    Guanylate-binding protein 3
    Protein Accession:
    Q9H0R5
    Secondary Accessions:
    • A2A317
    • A6NF86
    • B2RTW0
    • F8UW81
    • Q05D54
    • Q5T8L8
    • Q5T8L9
    • Q6P3V3
    • Q9NV33

    Protein attributes for GBP3 Gene

    Size:
    595 amino acids
    Molecular mass:
    68114 Da
    Quaternary structure:
    • Heterodimer with other family members, including GBP1, GBP2 and GBP5 (PubMed:21151871). Dimerization regulates subcellular location.
    SequenceCaution:
    • Sequence=AAH17992.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=CAB66615.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=EAW73151.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Shows the most prominent antiviral activity in epithelial cells.

    Alternative splice isoforms for GBP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBP3 Gene

Protein Expression for GBP3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for GBP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GBP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for GBP3
  • Santa Cruz Biotechnology (SCBT) Antibodies for GBP3

No data available for DME Specific Peptides for GBP3 Gene

Domains & Families for GBP3 Gene

Gene Families for GBP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GBP3 Gene

InterPro:
Blocks:
  • Guanylate-binding protein
ProtoNet:

Suggested Antigen Peptide Sequences for GBP3 Gene

GenScript: Design optimal peptide antigens:
  • Guanylate-binding protein 3 delta C (F8UW81_HUMAN)
  • Guanine nucleotide-binding protein 3 (GBP3_HUMAN)
  • Guanylate binding protein 3 (Q5T8M0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H0R5

UniProtKB/Swiss-Prot:

GBP3_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with GBP3: view

Function for GBP3 Gene

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  6. Cell Lines for research

Molecular function for GBP3 Gene

UniProtKB/Swiss-Prot Function:
Exhibits antiviral activity against influenza virus.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence={ECO:0000250|UniProtKB:P32455};.

Enzyme Numbers (IUBMB) for GBP3 Gene

Phenotypes From GWAS Catalog for GBP3 Gene

Gene Ontology (GO) - Molecular Function for GBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 12387898
GO:0005525 GTP binding IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GBP3: view
genes like me logo Genes that share phenotypes with GBP3: view

Animal Models for GBP3 Gene

MGI Knock Outs for GBP3:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBP3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GBP3 Gene

Localization for GBP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBP3 Gene

Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus membrane. Note=Heterodimers with GBP1, GBP2 and GBP5 localize in the compartment of the prenylated GBPs: with GBP1 in a vesicle-like compartment, with GBP2, around the nucleus and with GBP-5, at the Golgi apparatus. {ECO:0000269 PubMed:21151871}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBP3 gene
Compartment Confidence
cytosol 5
golgi apparatus 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for GBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA,IDA 17266443
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA 21151871
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GBP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GBP3 Gene

Pathways & Interactions for GBP3 Gene

genes like me logo Genes that share pathways with GBP3: view

Pathways by source for GBP3 Gene

1 KEGG pathway for GBP3 Gene

Gene Ontology (GO) - Biological Process for GBP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0051607 defense response to virus IEA --
GO:0071346 cellular response to interferon-gamma IBA 21873635
GO:0071347 cellular response to interleukin-1 IEP 17266443
GO:0071356 cellular response to tumor necrosis factor IEP 17266443
genes like me logo Genes that share ontologies with GBP3: view

No data available for SIGNOR curated interactions for GBP3 Gene

Drugs & Compounds for GBP3 Gene

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(1) Drugs for GBP3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GBP3: view

Transcripts for GBP3 Gene

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mRNA/cDNA for GBP3 Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GBP3

Alternative Splicing Database (ASD) splice patterns (SP) for GBP3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12
SP1: -
SP2:
SP3: - - -
SP4:
SP5:
SP6: - - -
SP7:
SP8: - - - - -
SP9:

Relevant External Links for GBP3 Gene

GeneLoc Exon Structure for
GBP3

Expression for GBP3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GBP3 Gene

mRNA expression in normal human tissues for GBP3 Gene
mRNA expression by GTEx for GBP3 Gene

Protein differential expression in normal tissues from HIPED for GBP3 Gene

This gene is overexpressed in Heart (53.9) and Urine (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GBP3 Gene



Protein tissue co-expression partners for GBP3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GBP3

SOURCE GeneReport for Unigene cluster for GBP3 Gene:

Hs.720167

Evidence on tissue expression from TISSUES for GBP3 Gene

  • Nervous system(4.5)
  • Spleen(2.2)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with GBP3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBP3 Gene

Orthologs for GBP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GBP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GBP3 30 31
  • 98.94 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia -- 31
  • 81 (a)
 ManyToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 77 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Gbp2b 30 17
  • 75.09 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 63 (a)
 ManyToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 58 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii gbp1 31
  • 41 (a)
 ManyToMany
Species where no ortholog for GBP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GBP3 Gene

ENSEMBL:
Gene Tree for GBP3 (if available)
TreeFam:
Gene Tree for GBP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GBP3: view image

Paralogs for GBP3 Gene

Paralogs for GBP3 Gene

(14) SIMAP similar genes for GBP3 Gene using alignment to 8 proteins:

  • GBP3_HUMAN
  • F6SPX6_HUMAN
  • F6X827_HUMAN
  • H3BNS1_HUMAN
  • H3BP53_HUMAN
  • H3BPH2_HUMAN
  • H3BRX6_HUMAN
  • Q5T8M0_HUMAN
genes like me logo Genes that share paralogs with GBP3: view

Variants for GBP3 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GBP3 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs10493821 - p.Val469Met
rs11808228 - p.Val558Ala
rs17433780 - p.Cys491Arg
rs3188433 - p.Thr347Ser
rs4656077 - p.Arg225Trp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GBP3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GBP3 Gene

Variant ID Type Subtype PubMed ID
dgv361n54 CNV gain 21841781
dgv362n54 CNV loss 21841781
dgv363n54 CNV loss 21841781
dgv55n67 CNV loss 20364138
dgv62e212 CNV loss 25503493
esv22437 CNV gain 19812545
esv2667765 CNV deletion 23128226
esv2714551 CNV deletion 23290073
esv2758948 CNV gain 17122850
esv3565560 CNV deletion 23714750
esv3586751 CNV loss 21293372
nsv10361 CNV gain 18304495
nsv1071104 CNV deletion 25765185
nsv546785 CNV loss 21841781
nsv546786 CNV loss 21841781
nsv546793 CNV loss 21841781
nsv546794 CNV loss 21841781
nsv819062 CNV gain 19587683
nsv820541 CNV deletion 20802225
nsv946055 CNV duplication 23825009

Variation tolerance for GBP3 Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.77; 99.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBP3 Gene

Disorders for GBP3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GBP3 Gene - From: COP

Disorder Aliases PubMed IDs
retinitis pigmentosa 7
  • rp7
- elite association - COSMIC cancer census association via MalaCards
Search GBP3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GBP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GBP3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GBP3 Gene

Publications for GBP3 Gene

  1. A new splice variant of the human guanylate-binding protein 3 mediates anti-influenza activity through inhibition of viral transcription and replication. (PMID: 22106366) Nordmann A … Ludwig S (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2012) 3 4
  2. Intracellular trafficking of guanylate-binding proteins is regulated by heterodimerization in a hierarchical manner. (PMID: 21151871) Britzen-Laurent N … Stürzl M (PloS one 2010) 3 4
  3. Unique features of different members of the human guanylate-binding protein family. (PMID: 17266443) Tripal P … Stürzl M (Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research 2007) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for GBP3 gene in Mastermind

Products for GBP3 Gene

Sources for GBP3 Gene