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

Gene ID: 8225, updated on 3-Nov-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 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)

Genotypes

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

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