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] See more...

Aliases for GTPBP6 Gene

Aliases for GTPBP6 Gene

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

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. Gene Ontology (GO) annotations related to this gene include GTP binding.

Gene Wiki entry for GTPBP6 Gene

Additional gene information for GTPBP6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTPBP6 Gene

Genomics for GTPBP6 Gene

GeneHancer (GH) Regulatory Elements for GTPBP6 Gene

Promoters and enhancers for GTPBP6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ000317 Promoter 0.6 Ensembl 500.7 -0.6 -582 4 L3MBTL2 ZNF121 MLLT1 GTPBP6 LINC00685 piR-32214-691
GH0XJ000280 Promoter/Enhancer 1.8 Ensembl CraniofacialAtlas dbSUPER 11.6 +36.7 36719 5 POLR2G SP1 JUND ZNF639 ZNF10 ZIC2 POLR2A AFF1 SAP30 KLF7 piR-48389-025 GTPBP6 PLCXD1
GH0XJ000372 Promoter/Enhancer 1.4 Ensembl CraniofacialAtlas dbSUPER 13.2 -53.9 -53882 4.6 POLR2G USF1 ZFX TCF7 ZBTB26 CTBP1 EZH2 KMT2B PCBP1 SMC3 GTPBP6 LINC00685 piR-52832 PPP2R3B
GH0XJ000368 Enhancer 0.5 dbSUPER 13.2 -50.3 -50289 0.5 ZIC2 ZNF316 MAFK NFE2 TAF1 MAFF GLIS2 EMSY MF281430-079 piR-52832 LINC00685 GTPBP6 PPP2R3B
GH0XJ000315 Enhancer 0.2 Ensembl 0.7 +3.0 3019 0.8 GTPBP6 piR-32287-165
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTPBP6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GTPBP6

Top Transcription factor binding sites by QIAGEN in the GTPBP6 gene promoter:
  • ATF-2
  • Brachyury
  • CRE-BP1
  • CREB
  • HEN1

Genomic Locations for GTPBP6 Gene

Genomic Locations for GTPBP6 Gene
chrX:303,357-318,819
(GRCh38/hg38)
Size:
15,463 bases
Orientation:
Minus strand
chrX:220,025-230,887
(GRCh37/hg19)
Size:
10,863 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:
    • H0Y2S1
    • Q53F77
    • Q5HYX8

    Protein attributes for GTPBP6 Gene

    Size:
    516 amino acids
    Molecular mass:
    56897 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAD97132.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA74749.2; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for GTPBP6 Gene

Post-translational modifications for GTPBP6 Gene

  • Ubiquitination at Lys155 and Lys509
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GTPBP6 Gene

Blocks:
  • GTP-binding protein, HSR1-related
  • GTP1/OBG GTP-binding protein family signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTPBP6 Gene

GenScript: Design optimal peptide antigens:
  • Pseudoautosomal GTP-binding protein-like (GTPB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43824

UniProtKB/Swiss-Prot:

GTPB6_HUMAN :
  • Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. HflX GTPase family.
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 TAS,IEA --
GO:0043022 ribosome binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GTPBP6: view
genes like me logo Genes that share phenotypes with GTPBP6: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 1
lysosome 1
plasma membrane 0
extracellular 0
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTPBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
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

PathCards logo

SuperPathways for GTPBP6 Gene

No Data Available

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

mRNA/cDNA for GTPBP6 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

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

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

Evidence on tissue expression from TISSUES for GTPBP6 Gene

  • Muscle(4.2)
  • Nervous system(2.8)
  • Lung(2.7)
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 , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 78.71 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GTPBP6 30
  • 77.69 (n)
mouse
(Mus musculus)
Mammalia Gtpbp6 17 31 30
  • 68.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
OneToMany
-- 31
  • 37 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia GTPBP6 31
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves GTPBP6 31 30
  • 64.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GTPBP6 31
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gtpbp6 30
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii wu:fc56b07 30
  • 62.05 (n)
gtpbp6 31
  • 35 (a)
OneToOne
wufl82e09 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13061 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003969 30
  • 53.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5116 31 30
  • 50.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F46B6.4 31 30
  • 45.89 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5044 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GTPBP6: view image

Paralogs for GTPBP6 Gene

No data available for Paralogs for GTPBP6 Gene

Variants for GTPBP6 Gene

Additional dbSNP identifiers (rs#s) for GTPBP6 Gene

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

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

Variation tolerance for GTPBP6 Gene

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

Additional Variant Information for GTPBP6 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GTPBP6 Gene

Disorders for GTPBP6 Gene

Additional Disease Information for 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 (Human molecular genetics 1998) 2 3 4 54
  2. Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells. (PMID: 29509190) Giurato G … Tarallo R (Scientific data 2018) 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. (PMID: 28611215) Fei T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 54
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 54

Products for GTPBP6 Gene

Sources for GTPBP6 Gene