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IRGQ immunity related GTPase Q [ Homo sapiens (human) ]

Gene ID: 126298, updated on 5-Mar-2024

Summary

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Official Symbol
IRGQprovided by HGNC
Official Full Name
immunity related GTPase Qprovided by HGNC
Primary source
HGNC:HGNC:24868
See related
Ensembl:ENSG00000167378 AllianceGenome:HGNC:24868
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
IRGQ1; FKSG27
Summary
Predicted to enable GTP binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 3.6), bone marrow (RPKM 3.5) and 25 other tissues See more
Orthologs
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Genomic context

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See IRGQ in Genome Data Viewer
Location:
19q13.31
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43584367..43596134, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46406008..46417777, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44088519..44100286, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44035307-44035478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10722 Neighboring gene zinc finger protein 575 Neighboring gene X-ray repair cross complementing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44067237-44067737 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:44080053-44080579 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:44080580-44081105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14727 Neighboring gene phospholipase A2 inhibitor and LY6/PLAUR domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14728 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:44098910-44099706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14730 Neighboring gene zinc finger protein 576 Neighboring gene zinc finger protein 428 Neighboring gene serine/arginine repetitive matrix 5

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. The interferon-inducible p47 (IRG) GTPases in vertebrates: loss of the cell autonomous resistance mechanism in the human lineage. Bekpen C, et al. Genome Biol, 2005. PMID 16277747, Free PMC Article
  2. Cullin-3/KCTD10 complex is essential for K27-polyubiquitination of EIF3D in human hepatocellular carcinoma HepG2 cells. Maekawa M, et al. Biochem Biophys Res Commun, 2019 Sep 3. PMID 31280863
  3. Intrinsically Disordered Protein TEX264 Mediates ER-phagy. Chino H, et al. Mol Cell, 2019 Jun 6. PMID 31006538
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. Hosgood HD 3rd, et al. Occup Environ Med, 2009 Dec. PMID 19773279, Free PMC Article
  5. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
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)

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

  • FLJ12521, FLJ38849, FLJ42796, FLJ46713

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
immunity-related GTPase family Q protein
Names
immunity-related GTPase family, Q
immunity-related GTPase family, Q1

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.

Genomic

  1. NG_055008.1 RefSeqGene

    Range
    5101..16868
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007561.3 → NP_001007562.1  immunity-related GTPase family Q protein

    See identical proteins and their annotated locations for NP_001007562.1

    Status: VALIDATED

    Source sequence(s)
    AC006276, BC137020, BM669904, CN315405
    Consensus CDS
    CCDS33040.1
    UniProtKB/Swiss-Prot
    B2RNP3, Q8WZA9
    UniProtKB/TrEMBL
    B7ZMD6
    Related
    ENSP00000387535.1, ENST00000422989.6

  2. NM_001388309.1 → NP_001375238.1  immunity-related GTPase family Q protein

    Status: VALIDATED

    Source sequence(s)
    AC006276
    Consensus CDS
    CCDS33040.1
    UniProtKB/Swiss-Prot
    B2RNP3, Q8WZA9
    UniProtKB/TrEMBL
    B7ZMD6
    Related
    ENSP00000472250.1, ENST00000602269.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    43584367..43596134 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    46406008..46417777 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WZA9.1 GenPept UniProtKB/Swiss-Prot:Q8WZA9

Gene LinkOut

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