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    GTPBP10 GTP binding protein 10 [ Homo sapiens (human) ]

    Gene ID: 85865, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GTPBP10provided by HGNC
    Official Full Name
    GTP binding protein 10provided by HGNC
    Primary source
    HGNC:HGNC:25106
    See related
    Ensembl:ENSG00000105793 MIM:610920; AllianceGenome:HGNC:25106
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ObgH2; UG0751c10
    Summary
    Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.6), kidney (RPKM 2.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTPBP10 in Genome Data Viewer
    Location:
    7q21.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (90346716..90391453)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (91595008..91639742)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (89976030..90020767)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 69 Neighboring gene family with sequence similarity 237 member B Neighboring gene uncharacterized LOC107986715 Neighboring gene uncharacterized LOC101927446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26245 Neighboring gene cell division cycle 42 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:90032955-90033480 Neighboring gene claudin 12

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GTPBP10 primarily ensures proper mtLSU maturation and ultimately serves to coordinate mtSSU and mtLSU accumulation
      Title: Human GTPBP10 is required for mitoribosome maturation.
    2. Our results suggest that GTPBP10 is a ribosome biogenesis factor of the mtLSU required for late stages of maturation.
      Title: The human Obg protein GTPBP10 is involved in mitoribosomal biogenesis.
    3. Knock-down of ObgH1 by RNAi induced mitochondria elongation, whereas knock-down of ObgH2 resulted in the disorganization of the nucleolar architecture.
      Title: Human small G proteins, ObgH1, and ObgH2, participate in the maintenance of mitochondria and nucleolar architectures.
    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

    EBI GWAS Catalog

    Description
    Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.
    EBI GWAS Catalog

    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

    • FLJ38242, MGC104191, DKFZp686A10121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding HDA PubMed 
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein 10
    Names
    GTP binding protein 10 (putative)
    protein obg homolog 2

    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.

    mRNA and Protein(s)

    1. NM_001042717.3 → NP_001036182.1  GTP-binding protein 10 isoform 1

      See identical proteins and their annotated locations for NP_001036182.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks alternate in-frame exons in the 5' coding region, compared to variant 2. The resulting protein (isoform 1) is shorter when it is compared to isoform 2.
      Source sequence(s)
      AC006153, AK095561, AK125553, AK294325, T65158
      Consensus CDS
      CCDS43614.1
      UniProtKB/Swiss-Prot
      A4D1E9
      Related
      ENSP00000257659.8, ENST00000257659.12
      Conserved Domains (2) summary
      cd01898
      Location:77 → 264
      Obg; Obg GTPase
      TIGR00231
      Location:77 → 262
      small_GTP; small GTP-binding protein domain

    2. NM_033107.4 → NP_149098.2  GTP-binding protein 10 isoform 2

      See identical proteins and their annotated locations for NP_149098.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and it encodes the longer protein (isoform 2)
      Source sequence(s)
      AC002064, AC006153, AK095561, AK125553, AK294325, T65158
      Consensus CDS
      CCDS5617.1
      UniProtKB/Swiss-Prot
      A4D1E9, B4DFY6, Q3B7A6, Q5H9V2, Q8IXG8, Q8N982, Q8WU16, Q9BSP1, Q9Y6T6
      Related
      ENSP00000222511.7, ENST00000222511.11
      Conserved Domains (1) summary
      TIGR02729
      Location:25 → 337
      Obg_CgtA; Obg family GTPase CgtA

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      90346716..90391453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      91595008..91639742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D1E9.1 GenPept UniProtKB/Swiss-Prot:A4D1E9

    Gene LinkOut

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

    Chemical Information
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