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Aliases for GTPBP6 Gene

Aliases for GTPBP6 Gene

  • GTP Binding Protein 6 (Putative) 2 3 5
  • PGPL 3 4
  • Pseudoautosomal GTP Binding Protein-Like 2
  • Pseudoautosomal GTP-Binding Protein-Like 4
  • Putative GTP-Binding Protein 6 3

External Ids for GTPBP6 Gene

Previous GeneCards Identifiers for GTPBP6 Gene

  • GC0YM000160
  • GC0XM000161
  • GC00U931416

Summaries for GTPBP6 Gene

Entrez Gene Summary for GTPBP6 Gene

  • This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]

GeneCards Summary for GTPBP6 Gene

GTPBP6 (GTP Binding Protein 6 (Putative)) is a Protein Coding gene. GO annotations related to this gene include GTP binding.

Gene Wiki entry for GTPBP6 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTPBP6 Gene

Genomics for GTPBP6 Gene

Regulatory Elements for GTPBP6 Gene

Enhancers for GTPBP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF000322 1 Ensembl 12.3 -4.9 -4905 1.7 ATF1 PKNOX1 ARID4B SIN3A ZNF2 YY1 ZNF121 GLIS2 KLF7 PAF1 GTPBP6 LINC00685 GC0XP000380
GH0XF001239 1.1 FANTOM5 Ensembl 10.7 -921.3 -921282 1.4 TBL1XR1 ZNF48 ZNF366 POLR3A EED CREM ZNF202 MTA2 CBFB REST CSF2RA IL3RA AKAP17A GTPBP6 ASMTL CRLF2 ASMT SLC25A6 P2RY8
GH0XF000356 1 Ensembl 11 -38.6 -38583 1.6 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF548 FOS KDM4B IL3RA GTPBP6 GC0XP000380 LINC00685
GH0XF000367 0.7 Ensembl 13.2 -51.1 -51059 3.9 ZIC2 HIC1 ZNF316 GLIS2 POLR2A ZBTB33 ZNF600 NFE2 MAFK EMSY GTPBP6 LINC00685 GC0XP000380
GH0XF001242 0.8 Ensembl 10.7 -924.5 -924482 1.8 PKNOX1 KLF17 YBX1 EBF1 ZNF48 GATA3 ZNF366 SCRT2 ZNF169 EED GTPBP6 AKAP17A CSF2RA CRLF2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTPBP6 on UCSC Golden Path with GeneCards custom track

Promoters for GTPBP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001915104 -481 3800 ZNF792 ZNF76 ARID4B SIN3A ZIC2 ZBTB40 RARA ZNF121 POLR2A ADNP

Genomic Location for GTPBP6 Gene

Chromosome:
X
Start:
303,357 bp from pter
End:
318,819 bp from pter
Size:
15,463 bases
Orientation:
Minus strand

Genomic View for GTPBP6 Gene

Genes around GTPBP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTPBP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTPBP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTPBP6 Gene

Proteins for GTPBP6 Gene

  • Protein details for GTPBP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43824-GTPB6_HUMAN
    Recommended name:
    Putative GTP-binding protein 6
    Protein Accession:
    O43824
    Secondary Accessions:
    • Q53F77
    • Q5HYX8

    Protein attributes for GTPBP6 Gene

    Size:
    516 amino acids
    Molecular mass:
    56883 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes.
    SequenceCaution:
    • Sequence=AAH14636.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP36024.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD97132.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA74749.2; Type=Miscellaneous discrepancy; Note=Has an upstream in-frame stop codon because of a region of poor sequence quality.; Evidence={ECO:0000305};

neXtProt entry for GTPBP6 Gene

Post-translational modifications for GTPBP6 Gene

  • Ubiquitination at Lys 155 and Lys 509
  • Modification sites at PhosphoSitePlus

Other Protein References for GTPBP6 Gene

No data available for DME Specific Peptides for GTPBP6 Gene

Domains & Families for GTPBP6 Gene

Gene Families for GTPBP6 Gene

Suggested Antigen Peptide Sequences for GTPBP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43824

UniProtKB/Swiss-Prot:

GTPB6_HUMAN :
  • Contains 1 Hflx-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. HflX GTPase family.
Domain:
  • Contains 1 Hflx-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. HflX GTPase family.
genes like me logo Genes that share domains with GTPBP6: view

Function for GTPBP6 Gene

Gene Ontology (GO) - Molecular Function for GTPBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005525 GTP binding IEA --
GO:0043022 ribosome binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GTPBP6: view

Phenotypes for GTPBP6 Gene

GenomeRNAi human phenotypes for GTPBP6:
genes like me logo Genes that share phenotypes with GTPBP6: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GTPBP6 Gene

Localization for GTPBP6 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 GTPBP6 gene
Compartment Confidence
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GTPBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with GTPBP6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GTPBP6 Gene

Pathways & Interactions for GTPBP6 Gene

SuperPathways for GTPBP6 Gene

No Data Available

Interacting Proteins for GTPBP6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000316598%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000316598 O43824-GTPB6_HUMAN for GTPBP6 Gene via STRING IID

Gene Ontology (GO) - Biological Process for GTPBP6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for GTPBP6 Gene

Drugs & Compounds for GTPBP6 Gene

(1) Drugs for GTPBP6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for GTPBP6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GTPBP6: view

Transcripts for GTPBP6 Gene

Unigene Clusters for GTPBP6 Gene

GTP binding protein 6 (putative):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTPBP6 Gene

No ASD Table

Relevant External Links for GTPBP6 Gene

GeneLoc Exon Structure for
GTPBP6
ECgene alternative splicing isoforms for
GTPBP6

Expression for GTPBP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GTPBP6 Gene

Protein differential expression in normal tissues from HIPED for GTPBP6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.6), Blymphocyte (10.6), Pancreas (9.6), and Ovary (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTPBP6 Gene



Protein tissue co-expression partners for GTPBP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTPBP6 Gene:

GTPBP6

SOURCE GeneReport for Unigene cluster for GTPBP6 Gene:

Hs.437145

mRNA Expression by UniProt/SwissProt for GTPBP6 Gene:

O43824-GTPB6_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with GTPBP6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTPBP6 Gene

Orthologs for GTPBP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for GTPBP6 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GTPBP6 34 35
  • 78.71 (n)
cow
(Bos Taurus)
Mammalia GTPBP6 34
  • 77.69 (n)
mouse
(Mus musculus)
Mammalia Gtpbp6 34 16 35
  • 68.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
OneToMany
-- 35
  • 37 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GTPBP6 35
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTPBP6 34 35
  • 64.97 (n)
lizard
(Anolis carolinensis)
Reptilia GTPBP6 35
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtpbp6 34
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii wu:fc56b07 34
  • 62.05 (n)
gtpbp6 35
  • 35 (a)
OneToOne
wufl82e09 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13061 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003969 34
  • 53.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5116 34 35
  • 50.4 (n)
worm
(Caenorhabditis elegans)
Secernentea F46B6.4 34 35
  • 45.89 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5044 35
  • 28 (a)
OneToOne
Species where no ortholog for GTPBP6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • rat (Rattus norvegicus)
  • 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 GTPBP6 Gene

ENSEMBL:
Gene Tree for GTPBP6 (if available)
TreeFam:
Gene Tree for GTPBP6 (if available)

Paralogs for GTPBP6 Gene

No data available for Paralogs for GTPBP6 Gene

Variants for GTPBP6 Gene

Sequence variations from dbSNP and Humsavar for GTPBP6 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs111487963 -- 312,193(+) TACAC(A/G)GGTGG intron-variant
rs111497272 -- 306,653(+) AGGCA(A/C)CTGTT intron-variant
rs111525272 -- 306,527(+) ACATT(-/TTGA)TTGTC intron-variant
rs111653681 -- 306,879(+) CAGTC(A/G)GAAAT intron-variant
rs111792933 -- 313,665(+) GTAAG(A/G)GACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTPBP6 Gene

Variant ID Type Subtype PubMed ID
nsv1153299 CNV duplication 26484159
nsv1147800 CNV duplication 26484159
nsv1140084 CNV duplication 24896259
nsv1132797 CNV duplication 24896259
nsv1077604 CNV duplication 25765185
esv2969346 CNV duplication 24192839
esv27600 CNV gain+loss 19812545
esv2673995 CNV deletion 23128226
esv2352842 CNV deletion 18987734

Variation tolerance for GTPBP6 Gene

Gene Damage Index Score: 5.28; 70.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTPBP6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTPBP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP6 Gene

Disorders for GTPBP6 Gene

Relevant External Links for GTPBP6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTPBP6

No disorders were found for GTPBP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GTPBP6 Gene

Publications for GTPBP6 Gene

  1. A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere. (PMID: 9466997) Gianfrancesco F. … Forabosco A. (Hum. Mol. Genet. 1998) 2 3 4 64
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  4. Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. (PMID: 17347996) Vawter M.P. … DeLisi L.E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 22 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 4 64

Products for GTPBP6 Gene

Sources for GTPBP6 Gene

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