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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
External Ids for GTPBP1 Gene
- HGNC: 4669
- Entrez Gene: 9567
- Ensembl: ENSG00000100226
- OMIM: 602245
- UniProtKB: O00178
Previous GeneCards Identifiers for GTPBP1 Gene
- GC22P035716
- GC22P037345
- GC22P037426
- GC22P039101
- GC22P022067
Summaries 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).
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 for GTPBP1 Gene
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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for GTPBP1 Gene
- chr22:38,704,557-38,738,299
- (GRCh38/hg38)
- Size:
- 33,743 bases
- Orientation:
- Plus strand
- chr22:39,101,728-39,134,304
- (GRCh37/hg19)
- 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:
-
- 22q13.1 by HGNC
- 22q13.1 by Entrez Gene
- 22q13.1 by Ensembl
GTPBP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GTPBP1 Gene
Proteins for GTPBP1 Gene
-
Protein details for GTPBP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00178-GTPB1_HUMAN
- Recommended name:
- GTP-binding protein 1
- Protein Accession:
- O00178
- 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};
Protein Expression for GTPBP1 Gene
Post-translational modifications for GTPBP1 Gene
Other Protein References for GTPBP1 Gene
Antibody Products
- G Biosciences Immunotag™ GTPBP1 Antibody
- Creative Diagnostics Anti-GTPBP1 (aa 1-76) polyclonal antibody
- Creative Biolabs Recombinant Mouse Anti-Human GTPBP1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for GTPBP1
- Novus Biologicals Antibodies for GTPBP1
-
Abcam antibodies for GTPBP1
- Invitrogen Antibodies for GTPBP1 (AFLGC-GTPBP1)
-
Biorbyt antibodies for GTPBP1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GTPBP1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for GTPBP1
- Origene Custom Protein Services for GTPBP1
- antibodies-online: Show 7 available GTPBP1 Proteins ranked by validation data
- Compare Top GTPBP1 Proteins
-
Quality Products:
-
Abcam proteins for GTPBP1
Assay Products
- antibodies-online: Show 8 available GTPBP1 Elisa Kits ranked by validation data
- Compare Top GTPBP1 Elisa Kits
-
Quality Products:
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
- Blocks:
-
- Elongation factor Tu, C-terminal
- InterPro:
- 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
O00178UniProtKB/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.
Function for GTPBP1 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0003746 | translation elongation factor activity | IBA | 21873635 |
| GO:0003924 | GTPase activity | ISS | -- |
| GO:0005525 | GTP binding | IEA,TAS | -- |
Phenotypes for GTPBP1 Gene
- MGI mutant phenotypes for GTPBP1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for GTPBP1:
-
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Decreased ionizing radiation sensitivity
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased transferrin (TF) endocytosis
- FOXO1 nuclear localization
Animal Models for GTPBP1 Gene
- MGI Knock Outs for GTPBP1:
-
- Gtpbp1 Gtpbp1<tm1Ynim>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GTPBP1 - Select products 50% OFF >
- * GTPBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GTPBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTPBP1
- genomics-online: gRNA clones - Search results for available GTPBP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTPBP1
miRNA for GTPBP1 Gene
- miRTarBase miRNAs that target GTPBP1
-
- hsa-mir-103a-3p (MIRT027163)
- hsa-mir-16-5p (MIRT031922)
- hsa-mir-423-5p (MIRT038114)
- hsa-mir-484 (MIRT041906)
- hsa-mir-331-3p (MIRT043448)
- hsa-mir-100-5p (MIRT048537)
- hsa-mir-767-5p (MIRT607152)
- hsa-mir-3130-3p (MIRT607153)
- hsa-mir-8485 (MIRT607154)
- hsa-mir-1976 (MIRT607467)
- hsa-mir-3976 (MIRT612235)
- hsa-mir-6856-5p (MIRT612236)
- hsa-mir-6758-5p (MIRT612237)
- hsa-mir-483-3p (MIRT706450)
- hsa-mir-1273f (MIRT736801)
- hsa-mir-1343-5p (MIRT737466)
- hsa-mir-3150a-3p (MIRT740266)
- hsa-mir-3175 (MIRT740660)
- hsa-mir-491-5p (MIRT749208)
- hsa-mir-5004-5p (MIRT749400)
- hsa-mir-6763-5p (MIRT755008)
- hsa-mir-6801-5p (MIRT756371)
- hsa-mir-6825-5p (MIRT756982)
- hsa-mir-7106-5p (MIRT758856)
- hsa-mir-7154-3p (MIRT759218)
- hsa-mir-92a-2-5p (MIRT760559)
- hsa-mir-939-5p (MIRT760757)
- hsa-mir-4524a-3p (MIRT786110)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTPBP1
- Browse OriGene Inhibitory RNA Products For GTPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP1
- genomics-online: shRNA clones - Search results for available GTPBP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GTPBP1 - Select products 50% OFF >
- * GTPBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GTPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTPBP1
- genomics-online: cdna clones - Search results for available GTPBP1 gene related products
- orf clones - Search results for available GTPBP1 gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| 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 |
- Cytosol (2)
- Golgi apparatus (2)
- Nuclear bodies (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000177 | cytoplasmic exosome (RNase complex) | IEA,ISS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | ISS,IEA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for GTPBP1 Gene
Interacting Proteins for GTPBP1 Gene
Selected Interacting proteins:
O00178-GTPB1_HUMAN
ENSP00000216044
for GTPBP1 Gene via
MINT
STRING
IID
GPS-Prot Interaction Network for GTPBP1
| 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 | ISS,IEA | -- |
| GO:0061014 | positive regulation of mRNA catabolic process | ISS,IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for GTPBP1 Gene
Drugs & Compounds for GTPBP1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Guanosine triphosphate | Experimental | Pharma | 0 |
Transcripts for GTPBP1 Gene
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 :
-
- ENST00000216044 4905 bps (ENST00000216044.10)
- ENST00000418601 810 bps (ENST00000418601.1)
- ENST00000458073 1350 bps (ENST00000458073.5)
- ENST00000460605 581 bps (ENST00000460605.1)
- ENST00000461428 476 bps (ENST00000461428.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GTPBP1 - Select products 50% OFF >
- * GTPBP1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GTPBP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTPBP1
- genomics-online: gRNA clones - Search results for available GTPBP1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for GTPBP1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTPBP1
- Browse OriGene Inhibitory RNA Products For GTPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP1
- genomics-online: shRNA clones - Search results for available GTPBP1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for GTPBP1 - Select products 50% OFF >
- * GTPBP1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GTPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTPBP1
- genomics-online: cdna clones - Search results for available GTPBP1 gene related products
- orf clones - Search results for available GTPBP1 gene related products
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Myoblasts Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Myoblasts Hyoid Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
- Bone (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for GTPBP1 Gene
This gene is overexpressed in Whole Blood (x7.2).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GTPBP1
SOURCE GeneReport for Unigene cluster for GTPBP1 Gene:
Hs.276925Evidence on tissue expression from TISSUES for GTPBP1 Gene
- Nervous system(4.7)
- Liver(4.3)
- Kidney(2.2)
- Blood(2.1)
- Intestine(2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for GTPBP1
-
OriGene qPCR primer pairs and template standards for GTPBP1
- genomics-online: primer clones - Search results for available GTPBP1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GTPBP1 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GTPBP1 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GTPBP1 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GTPBP1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Gtpbp1 30 |
|
||
| mouse (Mus musculus) |
Mammalia | Gtpbp1 17 31 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GTPBP1 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GTPBP1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GTPBP1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | gtpbp1 30 |
|
||
| Str.19499 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.14724 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | gtpbp1l 31 |
|
OneToMany | |
| gtpbp1 31 30 |
|
OneToMany | |||
| wufb36e06 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9562 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Dgp-1 31 32 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005227 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | cgp-1 31 30 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5638 31 |
|
OneToOne | |
| Cin.4464 30 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09513 30 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4464 30 |
|
- Species where no ortholog for GTPBP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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
Variants for GTPBP1 Gene
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 |
|---|---|---|---|---|---|
| 650009 | Uncertain Significance: Emery-Dreifuss muscular dystrophy | 38,738,216(+) | G/A | MISSENSE_VARIANT | |
| 707803 | Benign: not provided | 38,738,212(+) | G/A | SYNONYMOUS_VARIANT | |
| 745511 | Likely Benign: not provided | 38,736,378(+) | G/T | SYNONYMOUS_VARIANT | |
| 777311 | Likely Benign: not provided | 38,738,185(+) | C/T | SYNONYMOUS_VARIANT | |
| 797338 | Likely Benign: not provided | 38,736,347(+) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP1 Gene
Disorders for GTPBP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ebola hemorrhagic fever |
|
|
| bolivian hemorrhagic fever |
|
|
| marburg hemorrhagic fever |
|
|
| venezuelan hemorrhagic fever |
|
|
| brazilian hemorrhagic fever |
|
|
Search GTPBP1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GTPBP1
No data available for UniProtKB/Swiss-Prot and Genatlas for GTPBP1 Gene
Publications for GTPBP1 Gene
- 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 54
- 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 54
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54
- 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 54
- The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 54
ExternalLinks
Products for GTPBP1 Gene
- Custom Antibody ServicesOriGene Antibodies for GTPBP1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for GTPBP1
- Origene Custom Protein Services for GTPBP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GTPBP1
- Browse OriGene Inhibitory RNA Products For GTPBP1
- OriGene qPCR primer pairs for GTPBP1
- OriGene qPCR primer pairs and template standards for GTPBP1
- OriGene CRISPR knockouts for GTPBP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GTPBP1
- Sino Biological Human cDNA Clone for GTPBP1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GTPBP1
- Novus Biologicals proteins and lysates for GTPBP1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GTPBP1
- Abcam proteins for GTPBP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for GTPBP1 (AFLGC-GTPBP1)
- VectorBuilder Custom and pre-made DNA vectors for GTPBP1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GTPBP1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GTPBP1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GTPBP1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GTPBP1
- antibodies-online: Show 17 available GTPBP1 Antibodies ranked by validation data
- Compare Top GTPBP1 Antibodies
- antibodies-online: Show 8 available GTPBP1 Elisa Kits ranked by validation data
- Compare Top GTPBP1 Elisa Kits
- Quality Products:
- antibodies-online: Show 7 available GTPBP1 Proteins ranked by validation data
- Compare Top GTPBP1 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for GTPBP1
- Search Santa Cruz Biotechnology (SCBT) for GTPBP1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GTPBP1
- Horizon Cell Lines for GTPBP1
- genomics-online: cdna clones - Search results for available GTPBP1 gene related products
- orf clones - Search results for available GTPBP1 gene related products
- genomics-online: gRNA clones - Search results for available GTPBP1 gene related products
- genomics-online: primer clones - Search results for available GTPBP1 gene related products
- genomics-online: shRNA clones - Search results for available GTPBP1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GTPBP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GTPBP1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GTPBP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTPBP1
- Biorbyt antibodies for GTPBP1
Sources for GTPBP1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
- (120) UDN
- (121) VISTA
- (122) FANTOM5
- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody