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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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