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    GNL1 G protein nucleolar 1 (putative) [ Homo sapiens (human) ]

    Gene ID: 2794, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GNL1provided by HGNC
    Official Full Name
    G protein nucleolar 1 (putative)provided by HGNC
    Primary source
    HGNC:HGNC:4413
    See related
    Ensembl:ENSG00000204590 MIM:143024; AllianceGenome:HGNC:4413
    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
    HSR1
    Summary
    The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 17.9), testis (RPKM 13.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNL1 in Genome Data Viewer
    Location:
    6p21.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (30541381..30556489, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (30405556..30420665, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (30509158..30524266, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30457579-30458127 Neighboring gene major histocompatibility complex, class I, E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30481847-30482624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:30485727-30486226 Neighboring gene long intergenic non-protein coding RNA 2569 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30523544-30524109 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:30524110-30524674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30524675-30525239 Neighboring gene proline rich 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:30538839-30539400 Neighboring gene ATP binding cassette subfamily F member 1 Neighboring gene microRNA 877

    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. Subcellular distribution of the human putative nucleolar GTPase GNL1 is regulated by a novel arginine/lysine-rich domain and a GTP binding domain in a cell cycle-dependent manner. Boddapati N, et al. J Mol Biol, 2012 Feb 24. PMID 22244851
    2. Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation. Krishnan R, et al. Sci Rep, 2018 Jul 30. PMID 30061673, Free PMC Article
    3. Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with Graves' ophthalmopathy in a gender-dependent manner. Liu YH, et al. Ophthalmology, 2014 Oct. PMID 24908204
    4. Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade. Krishnan R, et al. Mol Biol Cell, 2020 Dec 15. PMID 33147101, Free PMC Article
    5. HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia. Paladini F, et al. Arthritis Res Ther, 2009. PMID 19912639, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade.
      Title: Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade.
    2. cross-talk between GNL1 and RPS20 is critical to promote cell proliferation.
      Title: Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation.
    3. The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict Graves ophthalmology in a gender-dependent manner in patients with Graves Disease in Taiwan.
      Title: Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with Graves' ophthalmopathy in a gender-dependent manner.
    4. The results demonstrated that multiple mechanisms are involved in the translocation of GNL1 to the nucleolus in a cell cycle-dependent manner to regulate cell growth and proliferation.
      Title: Subcellular distribution of the human putative nucleolar GTPase GNL1 is regulated by a novel arginine/lysine-rich domain and a GTP binding domain in a cell cycle-dependent manner.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.
    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

    • FLJ37752, DKFZp547E038, DKFZp547E128

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural molecule activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in T cell mediated immunity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein-like 1
    Names
    GTP-binding protein HSR1
    HSR1 GTP-binding 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_005275.5 → NP_005266.2  guanine nucleotide-binding protein-like 1

      See identical proteins and their annotated locations for NP_005266.2

      Status: VALIDATED

      Source sequence(s)
      AL662800
      Consensus CDS
      CCDS4680.1
      UniProtKB/Swiss-Prot
      B0S838, P36915, Q96CT5
      UniProtKB/TrEMBL
      A0A024RCR2, A0A1U9X7R2
      Related
      ENSP00000365806.3, ENST00000376621.8
      Conserved Domains (2) summary
      cd01857
      Location:177 → 418
      HSR1_MMR1; A circularly permuted subfamily of the Ras GTPases
      cl26335
      Location:170 → 514
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      30541381..30556489 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167244.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1870885..1883062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      2021100..2036209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1797204..1812313 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1851610..1866718 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1885427..1900535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      1796465..1811574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      1842137..1857244 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      30405556..30420665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36915.2 GenPept UniProtKB/Swiss-Prot:P36915

    Gene LinkOut

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

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