Human Gene GBP5 (uc001dnd.3) Description and Page Index
  Description: Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 2, mRNA.
RefSeq Summary (NM_001134486): This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017].
Transcript (Including UTRs)
   Position: hg19 chr1:89,724,634-89,738,544 Size: 13,911 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr1:89,726,387-89,735,238 Size: 8,852 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:89,724,634-89,738,544)mRNA (may differ from genome)Protein (586 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: GBP5_HUMAN
DESCRIPTION: RecName: Full=Guanylate-binding protein 5; AltName: Full=GBP-TA antigen; AltName: Full=GTP-binding protein 5; Short=GBP-5; AltName: Full=Guanine nucleotide-binding protein 5; Flags: Precursor;
FUNCTION: Stimulates the NLRP3 inflammasome assembly upon bacterial challenge.
SUBUNIT: Homotetramer when interacting with NLRP3 (By similarity). Homodimerizes upon GTP-binding, dimerization is required for the second hydrolysis step from GDP to GMP. Can also heterodimerize with other members of the family. Homotetramer when interacting with NLRP3.
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Lipid-anchor.
INDUCTION: By interferon gamma during macrophage activation.
SIMILARITY: Belongs to the GBP family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GBP5
CDC HuGE Published Literature: GBP5
Positive Disease Associations: Heart Diseases , Hypertension
Related Studies:
  1. Heart Diseases
    Martin G Larson et al. BMC medical genetics 2007, Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes., BMC medical genetics. [PubMed 17903304]
    No association attained genome-wide significance, but several intriguing findings emerged. Notably, we replicated associations of chromosome 9p21 with major CVD. Additional studies are needed to validate these results. Finding genetic variants associated with CVD may point to novel disease pathways and identify potential targeted preventive therapies.
  2. Hypertension
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: GBP5
Diseases sorted by gene-association score: chronic active epstein-barr virus infection (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.15 RPKM in Spleen
Total median expression: 42.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -119.70429-0.279 Picture PostScript Text
3' UTR -572.281753-0.326 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003191 - Guanylate-bd_C
IPR015894 - Guanylate-bd_N

Pfam Domains:
PF02263 - Guanylate-binding protein, N-terminal domain
PF02841 - Guanylate-binding protein, C-terminal domain

SCOP Domains:
48340 - Interferon-induced guanylate-binding protein 1 (GBP1), C-terminal domain
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on Q96PP8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003924 GTPase activity
GO:0005515 protein binding
GO:0005525 GTP binding
GO:0016787 hydrolase activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity

Biological Process:
GO:0002376 immune system process
GO:0006954 inflammatory response
GO:0034067 protein localization to Golgi apparatus
GO:0045089 positive regulation of innate immune response
GO:0050702 interleukin-1 beta secretion
GO:0051289 protein homotetramerization
GO:0071346 cellular response to interferon-gamma
GO:0072616 interleukin-18 secretion
GO:1900017 positive regulation of cytokine production involved in inflammatory response
GO:1900227 positive regulation of NLRP3 inflammasome complex assembly

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  JD326089 - Sequence 307113 from Patent EP1572962.
AL832285 - Homo sapiens mRNA; cDNA DKFZp667K0418 (from clone DKFZp667K0418).
BC033761 - Homo sapiens, Similar to guanylate binding protein 5, clone IMAGE:3857492, mRNA, partial cds.
AF430642 - Homo sapiens GBP-5b mRNA, complete cds; alternatively spliced.
BC031639 - Homo sapiens guanylate binding protein 5, mRNA (cDNA clone MGC:34645 IMAGE:5173241), complete cds.
AF430643 - Homo sapiens GBP-5a mRNA, complete cds; alternatively spliced.
AY358953 - Homo sapiens clone DNA61875 ALEI2427 (UNQ2427) mRNA, complete cds.
AF288815 - Homo sapiens guanylate binding protein 5 mRNA, complete cds.
AK315064 - Homo sapiens cDNA, FLJ96016, Homo sapiens guanylate binding protein 5 (GBP5), mRNA.
EU176216 - Synthetic construct Homo sapiens clone IMAGE:100006462; FLH186332.01X; RZPDo839C06250D guanylate binding protein 5 (GBP5) gene, encodes complete protein.
KJ895287 - Synthetic construct Homo sapiens clone ccsbBroadEn_04681 GBP5 gene, encodes complete protein.
DQ895650 - Synthetic construct Homo sapiens clone IMAGE:100010110; FLH186325.01L; RZPDo839D0561D guanylate binding protein 5 (GBP5) gene, encodes complete protein.
AF328727 - Homo sapiens CTCL tumor antigen GBP-5ta mRNA, partial cds.
AK090479 - Homo sapiens mRNA for FLJ00401 protein.
JD077872 - Sequence 58896 from Patent EP1572962.
JD404569 - Sequence 385593 from Patent EP1572962.
JD062775 - Sequence 43799 from Patent EP1572962.
JD214698 - Sequence 195722 from Patent EP1572962.
JD440659 - Sequence 421683 from Patent EP1572962.
JD469232 - Sequence 450256 from Patent EP1572962.
JD404570 - Sequence 385594 from Patent EP1572962.
JD404571 - Sequence 385595 from Patent EP1572962.
JD535661 - Sequence 516685 from Patent EP1572962.
JD469603 - Sequence 450627 from Patent EP1572962.
JD535660 - Sequence 516684 from Patent EP1572962.
JD051499 - Sequence 32523 from Patent EP1572962.
JD530887 - Sequence 511911 from Patent EP1572962.
JD503097 - Sequence 484121 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PP8 (Reactome details) participates in the following event(s):

R-HSA-877300 Interferon gamma signaling
R-HSA-913531 Interferon Signaling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCE1, GBP5_HUMAN, NM_001134486, NP_443174, Q86TM5, Q96PP8, UNQ2427/PRO4987
UCSC ID: uc001dnd.3
RefSeq Accession: NM_001134486
Protein: Q96PP8 (aka GBP5_HUMAN)
CCDS: CCDS722.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001134486.2
exon count: 11CDS single in 3' UTR: no RNA size: 3957
ORF size: 1761CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2647.50frame shift in genome: no % Coverage: 99.65
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.