GTPBP8 Gene (Protein Coding)

GTP Binding Protein 8 (Putative)

GC03P112990
GIFtS:
34
See more...

Aliases for GTPBP8 Gene

Aliases for GTPBP8 Gene

  • GTP Binding Protein 8 (Putative) 2 3 5
  • GTP-Binding Protein 8 3 4
  • HSPC135 2 3
  • GTP-Binding Protein 8 (Putative) 2
  • GTPBP8 5

External Ids for GTPBP8 Gene

Previous GeneCards Identifiers for GTPBP8 Gene

  • GC03P114193
  • GC03P112709
  • GC03P110093

Summaries for GTPBP8 Gene

GeneCards Summary for GTPBP8 Gene

GTPBP8 (GTP Binding Protein 8 (Putative)) is a Protein Coding gene. Diseases associated with GTPBP8 include Li-Fraumeni Syndrome 2. Gene Ontology (GO) annotations related to this gene include GTP binding and ferrous iron transmembrane transporter activity.

Additional gene information for GTPBP8 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTPBP8 Gene

Genomics for GTPBP8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GTPBP8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTPBP8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTPBP8

Top Transcription factor binding sites by QIAGEN in the GTPBP8 gene promoter:
  • aMEF-2
  • FOXD3
  • FOXO4
  • Max1
  • MEF-2A
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for GTPBP8 Gene

Genomic Locations for GTPBP8 Gene
chr3:112,990,953-113,015,060
(GRCh38/hg38)
Size:
24,108 bases
Orientation:
Plus strand
chr3:112,709,765-112,733,907
(GRCh37/hg19)
Size:
24,143 bases
Orientation:
Plus strand

Genomic View for GTPBP8 Gene

Genes around GTPBP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTPBP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTPBP8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GTPBP8 Gene

Proteins for GTPBP8 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for GTPBP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3Z3-GTPB8_HUMAN
    Recommended name:
    GTP-binding protein 8
    Protein Accession:
    Q8N3Z3
    Secondary Accessions:
    • A6NE99
    • A6NN11
    • A8K0P6
    • Q5I0Y4

    Protein attributes for GTPBP8 Gene

    Size:
    284 amino acids
    Molecular mass:
    32147 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for GTPBP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTPBP8 Gene

Protein Expression for GTPBP8 Gene

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

Post-translational modifications for GTPBP8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GTPBP8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GTPBP8 Gene

Domains & Families for GTPBP8 Gene

Gene Families for GTPBP8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTPBP8 Gene

InterPro:
Blocks:
  • GTP-binding protein, HSR1-related
ProtoNet:

Suggested Antigen Peptide Sequences for GTPBP8 Gene

GenScript: Design optimal peptide antigens:
  • GTP-binding protein 8 (GTPB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N3Z3

UniProtKB/Swiss-Prot:

GTPB8_HUMAN :
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. EngB GTPase family.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. EngB GTPase family.
genes like me logo Genes that share domains with GTPBP8: view

Function for GTPBP8 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Phenotypes From GWAS Catalog for GTPBP8 Gene

Gene Ontology (GO) - Molecular Function for GTPBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GTPBP8: view
genes like me logo Genes that share phenotypes with GTPBP8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP8

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTPBP8 Gene

Localization for GTPBP8 Gene

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 GTPBP8 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTPBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with GTPBP8: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GTPBP8 Gene

Pathways & Interactions for GTPBP8 Gene

PathCards logo

SuperPathways for GTPBP8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GTPBP8 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GTPBP8 Gene

Drugs & Compounds for GTPBP8 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for GTPBP8 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GTPBP8 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP8

Alternative Splicing Database (ASD) splice patterns (SP) for GTPBP8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2:
SP3: - -
SP4: - - -
SP5: - -

Relevant External Links for GTPBP8 Gene

GeneLoc Exon Structure for
GTPBP8

Expression for GTPBP8 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTPBP8 Gene

mRNA expression in normal human tissues for GTPBP8 Gene
mRNA expression by GTEx for GTPBP8 GenemRNA expression by BioGPS for GTPBP8 Gene

Protein differential expression in normal tissues from HIPED for GTPBP8 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTPBP8 Gene



Protein tissue co-expression partners for GTPBP8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTPBP8

SOURCE GeneReport for Unigene cluster for GTPBP8 Gene:

Hs.127496

Evidence on tissue expression from TISSUES for GTPBP8 Gene

  • Nervous system(4.2)
  • Muscle(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with GTPBP8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTPBP8 Gene

Orthologs for GTPBP8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GTPBP8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GTPBP8 30 31
  • 98.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GTPBP8 30 31
  • 83.86 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GTPBP8 30 31
  • 83.16 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Gtpbp8 30 17 31
  • 80.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gtpbp8 30
  • 80.33 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia GTPBP8 31
  • 74 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GTPBP8 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GTPBP8 30 31
  • 67.07 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GTPBP8 31
  • 54 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100490784 30
  • 63.77 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:rp71-84d19.3 30
  • 60.21 (n)
GTPBP8 31
  • 53 (a)
 OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.2998 30
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes -- 31
  • 25 (a)
 OneToOne
MRX8 33
Species where no ortholog for GTPBP8 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GTPBP8 Gene

ENSEMBL:
Gene Tree for GTPBP8 (if available)
TreeFam:
Gene Tree for GTPBP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTPBP8: view image

Paralogs for GTPBP8 Gene

No data available for Paralogs for GTPBP8 Gene

Variants for GTPBP8 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTPBP8 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1054263 - p.Gln242His

Additional dbSNP identifiers (rs#s) for GTPBP8 Gene

Structural Variations from Database of Genomic Variants (DGV) for GTPBP8 Gene

Variant ID Type Subtype PubMed ID
esv3893763 CNV loss 25118596
nsv591293 CNV loss 21841781

Variation tolerance for GTPBP8 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTPBP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTPBP8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP8 Gene

Disorders for GTPBP8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GTPBP8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
li-fraumeni syndrome 2
  • li-fraumeni syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTPBP8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GTPBP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTPBP8 Gene

Publications for GTPBP8 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

ExternalLinks

View latest publications for GTPBP8 gene in Mastermind

Products for GTPBP8 Gene

Sources for GTPBP8 Gene