GTPBP1 Gene (Protein Coding)

GTP Binding Protein 1

GC22P038705
GIFtS:
39
This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008] See more...

Aliases for GTPBP1 Gene

Aliases for GTPBP1 Gene

  • GTP Binding Protein 1 2 3 5
  • GP-1 2 3 4
  • GTP-Binding Protein 1 3 4
  • G-Protein 1 3 4
  • HSPC018 2 3
  • GP1 3 4
  • GTPBP1 5

External Ids for GTPBP1 Gene

Previous GeneCards Identifiers for GTPBP1 Gene

  • GC22P035716
  • GC22P037345
  • GC22P037426
  • GC22P039101
  • GC22P022067

Summaries for GTPBP1 Gene

Entrez Gene Summary for GTPBP1 Gene

  • This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]

GeneCards Summary for GTPBP1 Gene

GTPBP1 (GTP Binding Protein 1) is a Protein Coding gene. Diseases associated with GTPBP1 include Ebola Hemorrhagic Fever and Bolivian Hemorrhagic Fever. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GTPBP2.

UniProtKB/Swiss-Prot Summary for GTPBP1 Gene

  • Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity).

Gene Wiki entry for GTPBP1 Gene

Additional gene information for GTPBP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTPBP1 Gene

Genomics for GTPBP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for GTPBP1 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 GTPBP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTPBP1

Top Transcription factor binding sites by QIAGEN in the GTPBP1 gene promoter:
  • AML1a
  • Evi-1
  • FOXD1
  • N-Myc
  • POU2F1
  • POU2F1a
  • USF-1
  • USF1

Genomic Locations for GTPBP1 Gene

Latest Assembly
chr22:38,704,561-38,738,299
(GRCh38/hg38)
Size:
33,739 bases
Orientation:
Plus strand

Previous Assembly
chr22:39,101,949-39,129,592
(GRCh37/hg19 by Entrez Gene)
Size:
27,644 bases
Orientation:
Plus strand

chr22:39,101,728-39,134,304
(GRCh37/hg19 by Ensembl)
Size:
32,577 bases
Orientation:
Plus strand

Genomic View for GTPBP1 Gene

Genes around GTPBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTPBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTPBP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for GTPBP1 Gene

Proteins for GTPBP1 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for GTPBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00178-GTPB1_HUMAN
    Recommended name:
    GTP-binding protein 1
    Protein Accession:
    O00178
    Secondary Accessions:
    • Q6IC67

    Protein attributes for GTPBP1 Gene

    Size:
    669 amino acids
    Molecular mass:
    72454 Da
    Quaternary structure:
    • Interacts with EXOSC2/RRP4, EXOSC3/RRP40, EXOSC5/RRP46, HNRNPD, HNRNPR and SYNCRIP. Identified in a complex with AANAT mRNA, but does not bind mRNA by itself (By similarity).
    SequenceCaution:
    • Sequence=AAB51273.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAG30387.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GTPBP1 Gene

Protein Expression for GTPBP1 Gene

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

Post-translational modifications for GTPBP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GTPBP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for GTPBP1
  • Boster Bio Antibodies for GTPBP1

No data available for DME Specific Peptides for GTPBP1 Gene

Domains & Families for GTPBP1 Gene

Gene Families for GTPBP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTPBP1 Gene

InterPro:
Blocks:
  • Elongation factor Tu, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for GTPBP1 Gene

GenScript: Design optimal peptide antigens:
  • GTP binding protein 1 (B0QY59_HUMAN)
  • GTP-binding protein 1 (GTPB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00178

UniProtKB/Swiss-Prot:

GTPB1_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. GTPBP1 subfamily.
genes like me logo Genes that share domains with GTPBP1: view

Function for GTPBP1 Gene

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for GTPBP1 Gene

UniProtKB/Swiss-Prot Function:
Promotes degradation of target mRNA species. Plays a role in the regulation of circadian mRNA stability. Binds GTP and has GTPase activity (By similarity).
GENATLAS Biochemistry:
GTP binding protein 1

Phenotypes From GWAS Catalog for GTPBP1 Gene

Gene Ontology (GO) - Molecular Function for GTPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003746 translation elongation factor activity IBA 21873635
GO:0003924 GTPase activity ISS --
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with GTPBP1: view
genes like me logo Genes that share phenotypes with GTPBP1: view

Animal Models for GTPBP1 Gene

MGI Knock Outs for GTPBP1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GTPBP1 Gene

Localization for GTPBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTPBP1 Gene

Cytoplasm.

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 GTPBP1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GTPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000177 cytoplasmic exosome (RNase complex) IEA,ISS --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,ISS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with GTPBP1: view

Pathways & Interactions for GTPBP1 Gene

PathCards logo

SuperPathways for GTPBP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for GTPBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006414 translational elongation IBA 21873635
GO:0006955 immune response TAS 9070279
GO:0007165 signal transduction TAS 9070279
GO:0046039 GTP metabolic process IEA,ISS --
GO:0061014 positive regulation of mRNA catabolic process IEA,ISS --
genes like me logo Genes that share ontologies with GTPBP1: view

No data available for Pathways by source and SIGNOR curated interactions for GTPBP1 Gene

Drugs & Compounds for GTPBP1 Gene

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  1. Drug products for research

(1) Drugs for GTPBP1 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 GTPBP1: view

Transcripts for GTPBP1 Gene

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mRNA/cDNA for GTPBP1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
13 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 GTPBP1

Alternative Splicing Database (ASD) splice patterns (SP) for GTPBP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15
SP1: - - - - -
SP2: - - - - -
SP3: - - - -
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for GTPBP1 Gene

GeneLoc Exon Structure for
GTPBP1

Expression for GTPBP1 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 GTPBP1 Gene

mRNA expression in normal human tissues for GTPBP1 Gene
mRNA expression by BioGPS for GTPBP1 GenemRNA expression by GTEx for GTPBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GTPBP1 Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for GTPBP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.2) and Breast (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTPBP1 Gene



Protein tissue co-expression partners for GTPBP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTPBP1

SOURCE GeneReport for Unigene cluster for GTPBP1 Gene:

Hs.276925

Evidence on tissue expression from TISSUES for GTPBP1 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Kidney(2.7)
  • Spleen(2.6)
  • Muscle(2.5)
  • Skin(2.5)
  • Bone marrow(2.5)
  • Blood(2.5)
  • Intestine(2.4)
  • Lymph node(2.4)
  • Heart(2.4)
  • Lung(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with GTPBP1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTPBP1 Gene

Orthologs for GTPBP1 Gene

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

Orthologs for GTPBP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia GTPBP1 30 31
  • 99.85 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia GTPBP1 31
  • 97 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia GTPBP1 30 31
  • 93.5 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia GTPBP1 30 31
  • 93.07 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Gtpbp1 30
  • 91.78 (n)
Mouse
(Mus musculus)
 Mammalia Gtpbp1 30 17 31
  • 90.72 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia GTPBP1 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves GTPBP1 30 31
  • 81.53 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia GTPBP1 31
  • 88 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia gtpbp1 30
  • 75.43 (n)
Str.19499 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.14724 30
Zebrafish
(Danio rerio)
 Actinopterygii gtpbp1l 31
  • 78 (a)
 OneToMany
gtpbp1 30 31
  • 74.23 (n)
 OneToMany
wufb36e06 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9562 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Dgp-1 30 31 32
  • 66.04 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005227 30
  • 64.91 (n)
Worm
(Caenorhabditis elegans)
 Secernentea cgp-1 30 31
  • 55.02 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5638 31
  • 70 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09513 30
  • 56.11 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.4464 30
Species where no ortholog for GTPBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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)

Evolution for GTPBP1 Gene

ENSEMBL:
Gene Tree for GTPBP1 (if available)
TreeFam:
Gene Tree for GTPBP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTPBP1: view image

Paralogs for GTPBP1 Gene

Paralogs for GTPBP1 Gene

(1) SIMAP similar genes for GTPBP1 Gene using alignment to 9 proteins:

  • GTPB1_HUMAN
  • B0QY59_HUMAN
  • F5H257_HUMAN
  • F5H716_HUMAN
  • F5H7C0_HUMAN
  • F8WAZ4_HUMAN
  • H0YF75_HUMAN
  • H0YGA8_HUMAN
  • H0YH10_HUMAN
genes like me logo Genes that share paralogs with GTPBP1: view

Variants for GTPBP1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTPBP1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
838691 Uncertain Significance: Emery-Dreifuss muscular dystrophy 38,736,380(+) C/T
NM_015374.3(SUN2):c.2041G>A (p.Ala681Thr) 		MISSENSE
846154 Uncertain Significance: Emery-Dreifuss muscular dystrophy 38,738,174(+) T/C
NM_015374.3(SUN2):c.2039A>G (p.Gln680Arg) 		MISSENSE
rs1264903354 Uncertain Significance: Emery-Dreifuss muscular dystrophy 38,736,367(+) GC/G
NM_015374.3(SUN2):c.2053del (p.Ala685fs) 		FRAMESHIFT
rs146141522 Benign: Emery-Dreifuss muscular dystrophy 38,738,212(+) G/A
NM_015374.3(SUN2):c.2001C>T (p.Tyr667=) 		SYNONYMOUS
rs150292176 Uncertain Significance: Emery-Dreifuss muscular dystrophy 38,736,364(+) G/A
NM_015374.3(SUN2):c.2057C>T (p.Thr686Met) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GTPBP1 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 GTPBP1 Gene

Variant ID Type Subtype PubMed ID
dgv4566n100 CNV gain 25217958
dgv769n67 CNV gain 20364138
esv3647742 CNV loss 21293372
esv991516 CNV deletion 20482838
nsv1055817 CNV loss 25217958
nsv962791 CNV duplication 23825009

Variation tolerance for GTPBP1 Gene

Residual Variation Intolerance Score: 10.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTPBP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTPBP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP1 Gene

Disorders for GTPBP1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for GTPBP1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
ebola hemorrhagic fever
  • ebola virus disease
bolivian hemorrhagic fever
  • machupo hemorrhagic fever
venezuelan hemorrhagic fever
  • guanarito hemorrhagic fever
marburg hemorrhagic fever
  • marburg disease
brazilian hemorrhagic fever
  • sabia hemorrhagic fever
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GTPBP1

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 GTPBP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GTPBP1 Gene

Publications for GTPBP1 Gene

  1. Identification of human and mouse GP-1, a putative member of a novel G-protein family. (PMID: 9070279) Senju S … Nishimura Y (Biochemical and biophysical research communications 1997) 2 3 4 23
  2. 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
  3. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  4. Mouse and human GTPBP2, newly identified members of the GP-1 family of GTPase. (PMID: 10833435) Kudo H … Nishimura Y (Biochemical and biophysical research communications 2000) 3 23
  5. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4

ExternalLinks

View latest publications for GTPBP1 gene in Mastermind

Products for GTPBP1 Gene

Sources for GTPBP1 Gene