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

Gene ID: 9567, updated on 21-Dec-2019

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
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
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

Genomic context

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See GTPBP1 in Genome Data Viewer
Location:
22q13.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38704561..38738265)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (39101733..39129592)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene chibby family member 1, beta catenin antagonist Neighboring gene translocase of outer mitochondrial membrane 22 Neighboring gene Josephin domain containing 1 Neighboring gene peroxiredoxin 3 pseudogene 1 Neighboring gene Sad1 and UNC84 domain containing 2 Neighboring gene dynein axonemal light chain 4 Neighboring gene neuronal pentraxin receptor

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. Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2. Zinoviev A, et al. Genes Dev, 2018 Sep 1. PMID 30108131, Free PMC Article
  2. Immunocytochemical analyses and targeted gene disruption of GTPBP1. Senju S, et al. Mol Cell Biol, 2000 Sep. PMID 10938096, Free PMC Article
  3. 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
  4. 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
  5. Mouse and human GTPBP2, newly identified members of the GP-1 family of GTPase. Kudo H, et al. Biochem Biophys Res Commun, 2000 Jun 7. PMID 10833435

See all (40) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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)

Genotypes

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
GTP binding IEA
Inferred from Electronic Annotation
more info
  
GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
RNA binding HDA PubMed 
translation elongation factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Process Evidence Code Pubs
GTP metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
immune response TAS
Traceable Author Statement
more info
 PubMed 
positive regulation of mRNA catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
signal transduction TAS
Traceable Author Statement
more info
 PubMed 
translational elongation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
cytoplasmic exosome (RNase complex) ISS
Inferred from Sequence or Structural Similarity
more info
  
cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  
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
    Related
    ENSP00000216044.5, ENST00000216044.10
    Conserved Domains (1) summary
    cl27768
    Location:48 → 574
    SelB; Selenocysteine-specific translation elongation factor [Translation, ribosomal structure and biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    38704561..38738265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530537.2 → XP_011528839.1  GTP-binding protein 1 isoform X3

    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_017029099.2 → XP_016884588.1  GTP-binding protein 1 isoform X1

  3. XM_017029100.2 → XP_016884589.1  GTP-binding protein 1 isoform X2

  4. XM_017029103.2 → XP_016884592.1  GTP-binding protein 1 isoform X6

  5. XM_017029102.2 → XP_016884591.1  GTP-binding protein 1 isoform X5

  6. XM_017029101.2 → XP_016884590.1  GTP-binding protein 1 isoform X4

RNA

  1. XR_937969.2 RNA Sequence

  2. XR_937967.2 RNA Sequence

  3. XR_001755376.1 RNA Sequence

  4. XR_001755377.2 RNA Sequence

  5. XR_001755378.1 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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