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    GTPBP8 GTP binding protein 8 [ Homo sapiens (human) ]

    Gene ID: 29083, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GTPBP8provided by HGNC
    Official Full Name
    GTP binding protein 8provided by HGNC
    Primary source
    HGNC:HGNC:25007
    See related
    Ensembl:ENSG00000163607 AllianceGenome:HGNC:25007
    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
    HSPC135
    Summary
    Predicted to enable GTP binding activity; GTPase activity; and metal ion binding activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.6), thyroid (RPKM 3.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See GTPBP8 in Genome Data Viewer
    Location:
    3q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (112990984..113001969)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (115711946..115722926)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112709831..112720816)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CD200R1 pseudogene 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64462 Neighboring gene CD200 receptor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:112709373-112710000 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14605 Neighboring gene nucleolus and neural progenitor protein Neighboring gene NEPRO antisense RNA 1 Neighboring gene DNAJB1 peudogene 2

    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. GTPBP8 is required for mitoribosomal biogenesis and mitochondrial translation. Wang L, et al. Cell Mol Life Sci, 2023 Nov 16. PMID 37971521, Free PMC Article
    2. GTPBP8 plays a role in mitoribosome formation in human mitochondria. Cipullo M, et al. Nat Commun, 2024 Jul 5. PMID 38969660, Free PMC Article
    3. GTPBP8 modulates mitochondrial fission through a Drp1-dependent process. He X, et al. J Cell Sci, 2024 Apr 15. PMID 38587461, Free PMC Article
    4. MRX8, the conserved mitochondrial YihA GTPase family member, is required for de novo Cox1 synthesis at suboptimal temperatures in Saccharomyces cerevisiae. Verma Y, et al. Mol Biol Cell, 2021 Nov 1. PMID 34432493, Free PMC Article
    5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GTPBP8 modulates mitochondrial fission through a Drp1-dependent process.
      Title: GTPBP8 modulates mitochondrial fission through a Drp1-dependent process.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein 8
    Names
    GTP binding protein 8 (putative)

    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_014170.4 → NP_054889.2  GTP-binding protein 8 isoform 1

      See identical proteins and their annotated locations for NP_054889.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC074044, AF161484, AI367201, BC000003, CA429378
      Consensus CDS
      CCDS33820.1
      UniProtKB/Swiss-Prot
      A6NE99, A6NN11, A8K0P6, Q5I0Y4, Q8N3Z3
      UniProtKB/TrEMBL
      E7EV33, Q9P025
      Related
      ENSP00000373176.2, ENST00000383678.8
      Conserved Domains (1) summary
      cd01876
      Location:112 → 280
      YihA_EngB; YihA (EngB) GTPase family

    2. NM_138485.2 → NP_612494.1  GTP-binding protein 8 isoform 2

      See identical proteins and their annotated locations for NP_612494.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1, resulting in an isoform (2) that is missing an internal segment compared to isoform 1.
      Source sequence(s)
      AC074044, AI367201, BI830308, BX354218, CA429378
      Consensus CDS
      CCDS33821.1
      UniProtKB/TrEMBL
      E7EV33, Q9P025
      Related
      ENSP00000373175.3, ENST00000383677.7
      Conserved Domains (1) summary
      cd01876
      Location:113 → 247
      YihA_EngB; YihA (EngB) GTPase family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      112990984..113001969
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448046.1 → XP_047304002.1  GTP-binding protein 8 isoform X1

      Related
      ENSP00000418261.1, ENST00000488781.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      115711946..115722926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346366.1 → XP_054202341.1  GTP-binding protein 8 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001008235.1: Suppressed sequence

      Description
      NM_001008235.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_001008236.1: Suppressed sequence

      Description
      NM_001008236.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N3Z3.1 GenPept UniProtKB/Swiss-Prot:Q8N3Z3

    Gene LinkOut

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

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