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    NUGGC nuclear GTPase, germinal center associated [ Homo sapiens (human) ]

    Gene ID: 389643, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NUGGCprovided by HGNC
    Official Full Name
    nuclear GTPase, germinal center associatedprovided by HGNC
    Primary source
    HGNC:HGNC:33550
    See related
    Ensembl:ENSG00000189233 MIM:619088; AllianceGenome:HGNC:33550
    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
    SLIPGC; C8orf80; SLIP-GC; HMFN0672
    Summary
    Enables GTPase activity. Involved in cellular response to lipopolysaccharide; negative regulation of apoptotic process; and regulation of nuclear cell cycle DNA replication. Predicted to be located in nuclear speck. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lymph node (RPKM 5.9), liver (RPKM 3.6) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NUGGC in Genome Data Viewer
    Location:
    8p21.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (28021964..28083936, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (28300186..28362146, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27879481..27941453, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27750341-27750927 Neighboring gene VISTA enhancer hs1741 Neighboring gene scavenger receptor class A member 5 Neighboring gene uncharacterized LOC105379342 Neighboring gene microRNA 4287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27806885-27807386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27807387-27807886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27834121-27835005 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:27918038-27918203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:27920879-27921378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:27950237-27950790 Neighboring gene MPRA-validated peak6972 silencer Neighboring gene elongator acetyltransferase complex subunit 3 Neighboring gene uncharacterized LOC105379343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:28042753-28043255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:28049121-28049873 Neighboring gene delta 4-desaturase, sphingolipid 1 pseudogene

    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. Altered pattern of immunoglobulin hypermutation in mice deficient in Slip-GC protein. Richter K, et al. J Biol Chem, 2012 Sep 14. PMID 22833677, Free PMC Article
    2. Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project. Perroud N, et al. Pharmacogenomics J, 2012 Feb. PMID 20877300
    3. Speckled-like pattern in the germinal center (SLIP-GC), a nuclear GTPase expressed in activation-induced deaminase-expressing lymphomas and germinal center B cells. Richter K, et al. J Biol Chem, 2009 Oct 30. PMID 19734146, Free PMC Article
    4. Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies. Yu B, et al. Circ Cardiovasc Genet, 2013 Feb. PMID 23247143, Free PMC Article
    5. Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas. Yamada S, et al. Oncogene, 2004 Aug 5. PMID 15221005

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. SLIP-GC is a replication-related protein in germinal center B cells whose reduction is toxic to cells through an AICDA-dependent mechanism.
      Title: Speckled-like pattern in the germinal center (SLIP-GC), a nuclear GTPase expressed in activation-induced deaminase-expressing lymphomas and germinal center B cells.
    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

    EBI GWAS Catalog

    Description
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Genome-wide association study of increasing suicidal ideation during antidepressant treatment in the GENDEP project.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • FLJ26413

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of nuclear cell cycle DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    nuclear GTPase SLIP-GC
    Names
    GTPase SLIP-GC
    speckled-like pattern in the germinal center

    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_001010906.2 → NP_001010906.1  nuclear GTPase SLIP-GC

      See identical proteins and their annotated locations for NP_001010906.1

      Status: VALIDATED

      Source sequence(s)
      AA482187, AA768146, AB075870, AC019031, AC091573, AK129923, BU429067, CF137482
      Consensus CDS
      CCDS47833.1
      UniProtKB/Swiss-Prot
      Q68CJ6, Q6ZP73
      Related
      ENSP00000408697.2, ENST00000413272.7
      Conserved Domains (1) summary
      cl21455
      Location:103 → 182
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      28021964..28083936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544523.3 → XP_011542825.1  nuclear GTPase SLIP-GC isoform X1

      See identical proteins and their annotated locations for XP_011542825.1

      Conserved Domains (1) summary
      cl21455
      Location:127 → 206
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_011544524.4 → XP_011542826.1  nuclear GTPase SLIP-GC isoform X1

      See identical proteins and their annotated locations for XP_011542826.1

      Conserved Domains (1) summary
      cl21455
      Location:127 → 206
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    3. XM_011544525.2 → XP_011542827.1  nuclear GTPase SLIP-GC isoform X3

    4. XM_017013403.2 → XP_016868892.1  nuclear GTPase SLIP-GC isoform X2

    5. XM_011544526.3 → XP_011542828.1  nuclear GTPase SLIP-GC isoform X4

      Conserved Domains (1) summary
      cl21455
      Location:127 → 206
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      28300186..28362146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360451.1 → XP_054216426.1  nuclear GTPase SLIP-GC isoform X1

    2. XM_054360452.1 → XP_054216427.1  nuclear GTPase SLIP-GC isoform X1

    3. XM_054360454.1 → XP_054216429.1  nuclear GTPase SLIP-GC isoform X3

    4. XM_054360453.1 → XP_054216428.1  nuclear GTPase SLIP-GC isoform X2

    5. XM_054360455.1 → XP_054216430.1  nuclear GTPase SLIP-GC isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68CJ6.3 GenPept UniProtKB/Swiss-Prot:Q68CJ6

    Gene LinkOut

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

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