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

Gene ID: 29083, updated on 28-Oct-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, Oct 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

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