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

    Gene ID: 29083, updated on 3-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_014170.4NP_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:112280
      YihA_EngB; YihA (EngB) GTPase family
    2. NM_138485.2NP_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:113247
      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_047448046.1XP_047304002.1  GTP-binding protein 8 isoform X1

      UniProtKB/TrEMBL
      F8WBY6
      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_054346366.1XP_054202341.1  GTP-binding protein 8 isoform X1

      UniProtKB/TrEMBL
      F8WBY6

    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.