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    GTPBP1 GTP binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 9567, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GTPBP1provided by HGNC
    Official Full Name
    GTP binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:4669
    See related
    Ensembl:ENSG00000100226 MIM:602245; AllianceGenome:HGNC:4669
    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
    GP1; GP-1; HSPC018; NEDFET1
    Summary
    This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 26.4), spleen (RPKM 10.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTPBP1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (38705944..38743115)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (39176147..39214124)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39101949..39129592)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949 Neighboring gene translocase of outer mitochondrial membrane 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13726 Neighboring gene Josephin domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:39100707-39101392 Neighboring gene hESC enhancers GRCh37_chr22:39101393-39102078 and GRCh37_chr22:39102079-39102764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19017 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19018 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39156221-39157045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:39175672-39176172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13732 Neighboring gene dynein axonemal light chain 4 Neighboring gene neuronal pentraxin receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13733

    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
    • 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. Identification of human and mouse GP-1, a putative member of a novel G-protein family. Senju S, et al. Biochem Biophys Res Commun, 1997 Feb 13. PMID 9070279
    2. Low-density-lipoprotein-receptor-related protein (LRP) interacts with a GTP-binding protein. Goretzki L, et al. Biochem J, 1998 Dec 1. PMID 9820815, Free PMC Article
    3. Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2. Zinoviev A, et al. Genes Dev, 2018 Sep 1. PMID 30108131, Free PMC Article
    4. Immunocytochemical analyses and targeted gene disruption of GTPBP1. Senju S, et al. Mol Cell Biol, 2000 Sep. PMID 10938096, Free PMC Article
    5. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome. Salpietro V, et al. Am J Hum Genet, 2024 Jan 4. PMID 38118446, Free PMC Article

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20069

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA binding HDA PubMed 
    enables alpha-aminoacyl-tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables translation elongation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables translation elongation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GTP metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cytoplasmic translation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of mRNA catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in translational elongation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of cytoplasmic exosome (RNase complex) ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    GTP-binding protein 1
    Names
    G-protein 1

    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_004286.5 → NP_004277.2  GTP-binding protein 1

      See identical proteins and their annotated locations for NP_004277.2

      Status: REVIEWED

      Source sequence(s)
      AK095950, BC001701, BC014075, BC016030, BF001482
      Consensus CDS
      CCDS13977.2
      UniProtKB/Swiss-Prot
      O00178, Q6IC67
      UniProtKB/TrEMBL
      B2RDW9
      Related
      ENSP00000216044.5, ENST00000216044.10
      Conserved Domains (1) summary
      COG5258
      Location:48 → 574
      GTPBP1; GTPase [General function prediction only]

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38705944..38743115
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530537.3 → XP_011528839.1  GTP-binding protein 1 isoform X2

      UniProtKB/TrEMBL
      B2RDW9
      Conserved Domains (4) summary
      cd04165
      Location:170 → 394
      GTPBP1_like; GTP binding protein 1 (GTPBP1)-like family includes GTPBP2
      COG5258
      Location:48 → 582
      GTPBP1; GTPase [General function prediction only]
      cd03694
      Location:403 → 489
      GTPBP_II; Domain II of the GTPBP family of GTP binding proteins
      cd03708
      Location:495 → 581
      GTPBP_III; Domain III of the GP-1 family of GTPases

    2. XM_047441614.1 → XP_047297570.1  GTP-binding protein 1 isoform X3

    3. XM_017029100.3 → XP_016884589.1  GTP-binding protein 1 isoform X1

    4. XM_047441615.1 → XP_047297571.1  GTP-binding protein 1 isoform X5

    5. XM_047441616.1 → XP_047297572.1  GTP-binding protein 1 isoform X6

    6. XM_047441617.1 → XP_047297573.1  GTP-binding protein 1 isoform X7

    7. XM_017029101.3 → XP_016884590.1  GTP-binding protein 1 isoform X4

      UniProtKB/TrEMBL
      B2RDW9

    RNA

    1. XR_937967.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      39176147..39214124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326153.1 → XP_054182128.1  GTP-binding protein 1 isoform X2

    2. XM_054326154.1 → XP_054182129.1  GTP-binding protein 1 isoform X3

    3. XM_054326152.1 → XP_054182127.1  GTP-binding protein 1 isoform X1

    4. XM_054326156.1 → XP_054182131.1  GTP-binding protein 1 isoform X5

    5. XM_054326157.1 → XP_054182132.1  GTP-binding protein 1 isoform X6

    6. XM_054326158.1 → XP_054182133.1  GTP-binding protein 1 isoform X7

    7. XM_054326155.1 → XP_054182130.1  GTP-binding protein 1 isoform X4

    RNA

    1. XR_008485439.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00178.3 GenPept UniProtKB/Swiss-Prot:O00178

    Gene LinkOut

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