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    IRGC immunity related GTPase cinema [ Homo sapiens (human) ]

    Gene ID: 56269, updated on 27-Nov-2024

    Summary

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    Official Symbol
    IRGCprovided by HGNC
    Official Full Name
    immunity related GTPase cinemaprovided by HGNC
    Primary source
    HGNC:HGNC:28835
    See related
    Ensembl:ENSG00000124449 MIM:620634; AllianceGenome:HGNC:28835
    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
    IFGGE; IRGC1; Iigp5; CINEMA; R30953_1
    Summary
    Predicted to enable GTPase activity. Predicted to be involved in positive regulation of flagellated sperm motility. Located in lipid droplet and sperm mitochondrial sheath. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 28.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See IRGC in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (43716076..43720021)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46538808..46542768)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44220228..44224173)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene plasminogen activator, urokinase receptor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10726 Neighboring gene uncharacterized LOC124904724 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14732 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44183469-44183968 Neighboring gene phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44204596-44205096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14733 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44220201-44220701 Neighboring gene SMG9 nonsense mediated mRNA decay factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10729 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44268619-44268844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14739 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44270408-44270571 Neighboring gene CRISPRi-validated cis-regulatory element KCNN4 K1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44281957-44282457 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44283513-44284012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10731 Neighboring gene potassium calcium-activated channel subfamily N member 4

    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. Human IRGM gene "to be or not to be". Bekpen C, et al. Semin Immunopathol, 2010 Dec. PMID 20737271
    2. The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility. Li J, et al. FEBS Lett, 2023 Jun. PMID 37195149
    3. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility.
      Title: The immunity-related GTPase IRGC mediates interaction between lipid droplets and mitochondria to facilitate sperm motility.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in lipid droplet IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm mitochondrial sheath IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    interferon-inducible GTPase 5
    Names
    immunity-related GTPase cinema 1
    immunity-related GTPase family, cinema 1
    interferon-gamma-inducible GTPase IFGGE protein

    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_019612.4 → NP_062558.1  interferon-inducible GTPase 5

      See identical proteins and their annotated locations for NP_062558.1

      Status: VALIDATED

      Source sequence(s)
      BC033853, BC066939
      Consensus CDS
      CCDS12629.1
      UniProtKB/Swiss-Prot
      Q05BR8, Q6NXR0
      UniProtKB/TrEMBL
      J7NNX4
      Related
      ENSP00000244314.5, ENST00000244314.6
      Conserved Domains (2) summary
      cd04104
      Location:54 → 250
      p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1
      cl26332
      Location:12 → 76
      DUF258; Protein of unknown function, DUF258

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      43716076..43720021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527118.4 → XP_011525420.1  interferon-inducible GTPase 5 isoform X2

      See identical proteins and their annotated locations for XP_011525420.1

      UniProtKB/Swiss-Prot
      Q05BR8, Q6NXR0
      UniProtKB/TrEMBL
      J7NNX4
      Conserved Domains (2) summary
      cd04104
      Location:54 → 250
      p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1
      cl26332
      Location:12 → 76
      DUF258; Protein of unknown function, DUF258

    2. XM_005259058.4 → XP_005259115.1  interferon-inducible GTPase 5 isoform X1

      See identical proteins and their annotated locations for XP_005259115.1

      Conserved Domains (3) summary
      cd04104
      Location:91 → 287
      p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1
      pfam05049
      Location:59 → 440
      IIGP; Interferon-inducible GTPase (IIGP)
      cl21455
      Location:55 → 113
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_006723283.4 → XP_006723346.1  interferon-inducible GTPase 5 isoform X2

      See identical proteins and their annotated locations for XP_006723346.1

      UniProtKB/Swiss-Prot
      Q05BR8, Q6NXR0
      UniProtKB/TrEMBL
      J7NNX4
      Conserved Domains (2) summary
      cd04104
      Location:54 → 250
      p47_IIGP_like; p47 GTPase family includes IGTP, TGTP/Mg21, IRG-47, GTPI, LRG-47, and IIGP1
      cl26332
      Location:12 → 76
      DUF258; Protein of unknown function, DUF258

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      46538808..46542768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321467.1 → XP_054177442.1  interferon-inducible GTPase 5 isoform X1

    2. XM_054321469.1 → XP_054177444.1  interferon-inducible GTPase 5 isoform X2

      UniProtKB/Swiss-Prot
      Q05BR8, Q6NXR0
      UniProtKB/TrEMBL
      J7NNX4

    3. XM_054321468.1 → XP_054177443.1  interferon-inducible GTPase 5 isoform X2

      UniProtKB/Swiss-Prot
      Q05BR8, Q6NXR0
      UniProtKB/TrEMBL
      J7NNX4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NXR0.1 GenPept UniProtKB/Swiss-Prot:Q6NXR0

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