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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Title: Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
GTPBP1 possesses eEF1A-like elongation activity, delivering cognate aminoacyl-transfer RNA to the ribosomal A site in a GTP-dependent manner. It also stimulates exosomal degradation of mRNAs in elongation complexes.
Title: Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.

Submit: New GeneRIF Correction

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

RH77968 (e-PCR)
- UniSTS:46857

D11S2921 (e-PCR)
- UniSTS:152074

D22S412E (e-PCR)
- UniSTS:473115

AU048745 (e-PCR)
- UniSTS:145195

G65738 (e-PCR)
- UniSTS:167003

D22S1123E (e-PCR)
- UniSTS:153973

SHGC-83543 (e-PCR)
- UniSTS:101750

GTPBP1_1885 (e-PCR)
- UniSTS:280746

MARC_17175-17176:1021303484:1 (e-PCR)
- UniSTS:268238

D5S1597E (e-PCR)
- UniSTS:151019

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 more info	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 more info	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)

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

38705944..38743115

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047441614.1 → XP_047297570.1 GTP-binding protein 1 isoform X3
XM_017029100.3 → XP_016884589.1 GTP-binding protein 1 isoform X1
XM_047441615.1 → XP_047297571.1 GTP-binding protein 1 isoform X5
XM_047441616.1 → XP_047297572.1 GTP-binding protein 1 isoform X6
XM_047441617.1 → XP_047297573.1 GTP-binding protein 1 isoform X7
XM_017029101.3 → XP_016884590.1 GTP-binding protein 1 isoform X4

UniProtKB/TrEMBL

B2RDW9