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    GTPBP6 GTP binding protein 6 (putative) [ Homo sapiens (human) ]

    Gene ID: 8225, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GTPBP6provided by HGNC
    Official Full Name
    GTP binding protein 6 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:30189
    See related
    Ensembl:ENSG00000178605 Ensembl:ENSG00000292358 MIM:300124; AllianceGenome:HGNC:30189
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PGPL
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 14.1), spleen (RPKM 12.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTPBP6 in Genome Data Viewer
    Location:
    X;Y
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (304759..318796, complement)
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) Y NC_000024.10 (304759..318796, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (132988..149851, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) Y NC_060948.1 (132137..148937, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (221426..230887, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Y NC_000024.9 (171426..180887, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:187587-188168 Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 1 Neighboring gene long intergenic non-protein coding RNA 685 Neighboring gene protein phosphatase 2 regulatory subunit B''beta Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:323668-324173 and GRCh37_chrY:273658-274173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:274174-274688 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:333708-333890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:335885-336775

    Chromosome Y - NC_000024.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:187587-188168 Neighboring gene vegetative cell wall protein gp1-like Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 1 Neighboring gene long intergenic non-protein coding RNA 685 Neighboring gene protein phosphatase 2 regulatory subunit B''beta Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chrX:323668-324173 and GRCh37_chrY:273658-274173 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrY:274174-274688 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:333708-333890 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:335885-336775

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Dual function of GTPBP6 in biogenesis and recycling of human mitochondrial ribosomes. Lavdovskaia E, et al. Nucleic Acids Res, 2020 Dec 16. PMID 33264405, Free PMC Article
    2. Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition. Vawter MP, et al. Am J Med Genet B Neuropsychiatr Genet, 2007 Sep 5. PMID 17347996, Free PMC Article
    3. Structural basis of GTPase-mediated mitochondrial ribosome biogenesis and recycling. Hillen HS, et al. Nat Commun, 2021 Jun 16. PMID 34135319, Free PMC Article
    4. Differential divergence of three human pseudoautosomal genes and their mouse homologs: implications for sex chromosome evolution. Gianfrancesco F, et al. Genome Res, 2001 Dec. PMID 11731500, Free PMC Article
    5. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Vukotic M, et al. Mol Cell, 2017 Aug 3. PMID 28712724

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dual function of GTPBP6 in biogenesis and recycling of human mitochondrial ribosomes.
      Title: Dual function of GTPBP6 in biogenesis and recycling of human mitochondrial ribosomes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20977, FLJ22809, FLJ56662, FLJ56805, FLJ90047

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ribosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    putative GTP-binding protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034126.1 RefSeqGene

      Range
      5024..19061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012227.4 → NP_036359.3  putative GTP-binding protein 6

      See identical proteins and their annotated locations for NP_036359.3

      Status: REVIEWED

      Source sequence(s)
      BX000483, FO681518
      Consensus CDS
      CCDS75943.1
      UniProtKB/Swiss-Prot
      H0Y2S1, O43824, Q53F77, Q5HYX8
      Related
      ENSP00000316598.5, ENSP00000518626.1, ENST00000326153.10, ENST00000711233.1
      Conserved Domains (1) summary
      COG2262
      Location:116 → 513
      HflX; 50S ribosomal subunit-associated GTPase HflX [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      304759..318796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442543.1 → XP_047298499.1  putative GTP-binding protein 6 isoform X1

    2. XM_047442545.1 → XP_047298501.1  putative GTP-binding protein 6 isoform X2

    3. XM_047442544.1 → XP_047298500.1  putative GTP-binding protein 6 isoform X2

    4. XM_047442546.1 → XP_047298502.1  putative GTP-binding protein 6 isoform X3

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000024.10 Reference GRCh38.p14 Primary Assembly

      Range
      304759..318796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442759.1 → XP_047298715.1  putative GTP-binding protein 6 isoform X1

    2. XM_047442761.1 → XP_047298717.1  putative GTP-binding protein 6 isoform X2

    3. XM_047442760.1 → XP_047298716.1  putative GTP-binding protein 6 isoform X2

    4. XM_047442762.1 → XP_047298718.1  putative GTP-binding protein 6 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      132988..149851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327927.1 → XP_054183902.1  putative GTP-binding protein 6 isoform X1

    2. XM_054327928.1 → XP_054183903.1  putative GTP-binding protein 6 isoform X2

    3. XM_054327929.1 → XP_054183904.1  putative GTP-binding protein 6 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060948.1 Alternate T2T-CHM13v2.0

      Range
      132137..148937 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328363.1 → XP_054184338.1  putative GTP-binding protein 6 isoform X1

    2. XM_054328364.1 → XP_054184339.1  putative GTP-binding protein 6 isoform X4

    3. XM_054328365.1 → XP_054184340.1  putative GTP-binding protein 6 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43824.4 GenPept UniProtKB/Swiss-Prot:O43824

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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