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GTPBP6 Gene

protein-coding   GIFtS: 47
GCID: GC0XM000161

GTP Binding Protein 6 (Putative)

  Search for GTPBP6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
GTP Binding Protein 6 (Putative)1 2
PGPL2 3 5
Pseudoautosomal GTP Binding Protein-Like1
Putative GTP-Binding Protein 62
Pseudoautosomal GTP-Binding Protein-Like3

External Ids:    HGNC: 301891   Entrez Gene: 82252   Ensembl: ENSG000001786057   OMIM: 3001245   UniProtKB: O438243   

Export aliases for GTPBP6 gene to outside databases

Previous GC identifers: GC0YM000160 GC00U931416


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_187358.1  NC_000024.9  NT_167201.2  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTPBP6 gene promoter:
         CREB   HEN1   CRE-BP1   ATF-2   Brachyury   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GTPBP6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTPBP6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.33; Yp11.32   Ensembl cytogenetic band:  Xp22.33   HGNC cytogenetic band: Xp22.33 and Yp11.32

GTPBP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTPBP6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM000161:  view genomic region     (about GC identifiers)

Start:
220,025 bp from pter      End:
230,887 bp from pter
Size:
10,863 bases      Orientation:
minus strand

1 alternative location:
ChrY- 171,426-180,887     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GTPB6_HUMAN, O43824 (See protein sequence)
Recommended Name: Putative GTP-binding protein 6  
Size: 516 amino acids; 56883 Da
Miscellaneous: The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y
chromosomes
Sequence caution: Sequence=AAH14636.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAP36024.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAD97132.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA74749.2; Type=Miscellaneous
discrepancy; Note=Has an upstream in-frame stop codon because of a region of poor sequence quality;
Secondary accessions: Q53F77 Q5HYX8

Explore the universe of human proteins at neXtProt for GTPBP6: NX_O43824

Explore proteomics data for GTPBP6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys155, Lys509
  • Modification sites at PhosphoSitePlus

  • See GTPBP6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036359.3  
    ENSEMBL proteins: 
     ENSP00000383537   ENSP00000316598  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PAR1: Pseudoautosomal regions / PAR1

    3 InterPro protein domains:
     IPR016496 GTPase_HflX
     IPR027417 P-loop_NTPase
     IPR006073 GTP_binding_domain

    Graphical View of Domain Structure for InterPro Entry O43824

    ProtoNet protein and cluster: O43824

    2 Blocks protein domains:
    IPB002917 GTP-binding protein
    IPB006073 GTP1/OBG GTP-binding protein family signature


    UniProtKB/Swiss-Prot: GTPB6_HUMAN, O43824
    Similarity: Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. HflX GTPase family
    Similarity: Contains 1 Hflx-type G (guanine nucleotide-binding) domain


    Find genes that share domains with GTPBP6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0015093ferrous iron transmembrane transporter activity ----
         
    Find genes that share ontologies with GTPBP6           About GenesLikeMe


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus2
    cytosol1
    endosome1
    extracellular1
    golgi apparatus1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with GTPBP6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTPBP6
    Interactions:

        Search GeneGlobe Interaction Network for GTPBP6

    1 Interacting protein for GTPBP6 (O438243) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015684ferrous iron transport ----

    Find genes that share ontologies with GTPBP6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for GTPBP6 (GTPB6)

    1 HMDB Compound for GTPBP6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for GTPBP6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 56.3 4 7798313 (1), 8643598 (1), 17347996 (1), 8223626 (1)



    Find genes that share compounds with GTPBP6           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GTPBP6 gene: 
    NM_012227.3  

    Unigene Cluster for GTPBP6:

    GTP binding protein 6 (putative)
    Hs.437145  [show with all ESTs]
    Unigene Representative Sequence: AK097872
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485332(uc011mgy.1) ENST00000400701 ENST00000326153(uc004cpe.1)

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    Additional mRNA sequence: 

    AK024630.1 AK026462.1 AK074528.1 AK097872.1 AK223412.1 AK296003.1 AK298260.1 BC014636.1 
    BT007360.1 Y14391.2 

    17 DOTS entries:

    DT.447777  DT.95227522  DT.100796372  DT.97845535  DT.121644464  DT.121280244  DT.92435847  DT.100729682 
    DT.100796374  DT.75123910  DT.95092433  DT.121280241  DT.121280260  DT.75196527  DT.95349299  DT.121280269 
    DT.75199908 

    Selected AceView cDNA sequences (see all 137):

    BI438310 BM665125 BM695273 BU527365 BQ673512 BM853829 AI919168 BM695755 
    CF541422 BM666442 CA442719 BM977603 BE379100 BM984966 AL543887 BF683496 
    BV204682 CA415681 BF436481 BQ643036 AA789136 AW592274 BQ918464 BU608375 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GTPBP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGAGGTTC
    GTPBP6 Expression
    About this image

    GTPBP6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTPBP6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437145

    UniProtKB/Swiss-Prot: GTPB6_HUMAN, O43824
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for GTPBP6 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtpbp61 GTP binding protein 6 (putative) 68.26(n)
    63.94(a)
      107999  NM_145147.5  NP_660129.2 
    chicken
    (Gallus gallus)
    Aves GTPBP61 GTP binding protein 6 (putative) 64.97(n)
    70.14(a)
      418672  XM_416868.4  XP_416868.3 
    lizard
    (Anolis carolinensis)
    Reptilia GTPBP66
    GTP binding protein 6 (putative)
    40(a)
    1 ↔ 1
    3(112176510-112191266)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gtpbp61 GTP binding protein 6 (putative) 62.19(n)
    66.98(a)
      100487881  XM_002936982.2  XP_002937028.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufl82e092 wufl82e09 72.46(n)   386823  BI878766.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51161 CG5116 50.4(n)
    42.03(a)
      43081  NM_143142.4  NP_651399.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F46B6.41 F46B6.4 45.89(n)
    38.4(a)
      179372  NM_073122.1  NP_505523.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GTPBP6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2352842CNV Deletion18987734
    esv2673995CNV Deletion23128226
    esv27600CNV Gain+Loss19812545

    Locus Specific Mutation Databases (LSDB): GTPBP6

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300124    OMIM disorders: --


    Find genes that share disorders with GTPBP6           About GenesLikeMe


    Export disorders for GTPBP6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GTPBP6 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with GTPBP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere. (PubMed id 9466997)1, 2, 3 Gianfrancesco F.... Forabosco A. (Hum. Mol. Genet. 1998)
    2. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    6. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)
    7. AGAP1, an endosome-associated, phosphoinositide-dependent ADP- ribosylation factor GTPase-activating protein that affects actin cytoskeleton. (PubMed id 12388557)9 Nie Z.... Randazzo P.A. (J. Biol. Chem. 2002)
    8. Study of rab6, a ras-like GTP-binding protein associated with the Golgi complex. (PubMed id 7978884)9 Goud B....Slepnev V. (Ann. N. Y. Acad. Sci. 1994)
    9. Study of rab6, a ras-like GTP-binding protein associated with the Golgi complex. (PubMed id 8154747)9 Goud B....Mayau V. (Ann. N. Y. Acad. Sci. 1994)
    10. Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. (PubMed id 17347996)9 Vawter M.P....DeLisi L.E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8225 HGNC: 30189 AceView: GTPBP6 Ensembl:ENSG00000178605 euGenes: HUgn8225
    ECgene: GTPBP6 H-InvDB: GTPBP6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GTPBP6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GTPBP6 gene:
    Search GeneIP for patents involving GTPBP6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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