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

Gene ID: 9567, updated on 3-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 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 Variation Viewer (GRCh37.p13)

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

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