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    GBP6 guanylate binding protein family member 6 [ Homo sapiens (human) ]

    Gene ID: 163351, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GBP6provided by HGNC
    Official Full Name
    guanylate binding protein family member 6provided by HGNC
    Primary source
    HGNC:HGNC:25395
    See related
    Ensembl:ENSG00000183347 MIM:612467; AllianceGenome:HGNC:25395
    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
    Summary
    Guanylate-binding proteins, such as GBP6, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
    Expression
    Restricted expression toward esophagus (RPKM 171.0) See more
    Orthologs
    all
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    Genomic context

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    See GBP6 in Genome Data Viewer
    Location:
    1p22.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89364059..89388160)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89207077..89231426)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (89829618..89853719)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene guanylate binding protein family member 6 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:89725724-89726225 Neighboring gene guanylate binding protein 5 Neighboring gene intraflagellar transport associated protein pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:89802881-89803381 Neighboring gene calpain small subunit 1 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:89883292-89883872 Neighboring gene guanylate binding protein 1 pseudogene 1

    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. Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study. Suarez-Gestal M, et al. Arthritis Res Ther, 2010. PMID 20423481, Free PMC Article
    2. In silico genomic analysis of the human and murine guanylate-binding protein (GBP) gene clusters. Olszewski MA, et al. J Interferon Cytokine Res, 2006 May. PMID 16689661
    3. Elucidation of the BMI1 interactome identifies novel regulatory roles in glioblastoma. Freire-Benéitez V, et al. NAR Cancer, 2021 Mar. PMID 34316702, Free PMC Article
    4. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
    5. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Lack of replication of genetic predictors for the rheumatoid arthritis response to anti-TNF treatments: a prospective case-only study.
    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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    Markers

    Homology

    Clone Names

    • FLJ39135, DKFZp686G0786

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to type II interferon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to type II interferon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in defense response to bacterium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in defense response to protozoan IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    guanylate-binding protein 6
    Names
    GBP-6
    GTP-binding protein 6
    guanine nucleotide-binding protein 6

    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_001320257.2 → NP_001307186.1  guanylate-binding protein 6 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses an downstream in-frame start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK299466, AK303987, AL691464, BX647907, DA447005
      UniProtKB/TrEMBL
      B4DRX0
      Conserved Domains (3) summary
      pfam02841
      Location:153 → 449
      GBP_C; Guanylate-binding protein, C-terminal domain
      cd16269
      Location:159 → 449
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl21455
      Location:1 → 151
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_198460.3 → NP_940862.2  guanylate-binding protein 6 isoform 1

      See identical proteins and their annotated locations for NP_940862.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI199897, AK131356, AL691464
      Consensus CDS
      CCDS723.1
      UniProtKB/Swiss-Prot
      A2RRM3, Q6ZN66, Q6ZN86, Q7Z3F0
      UniProtKB/TrEMBL
      B0AZP3
      Related
      ENSP00000359485.5, ENST00000370456.5
      Conserved Domains (3) summary
      pfam02841
      Location:283 → 579
      GBP_C; Guanylate-binding protein, C-terminal domain
      pfam02263
      Location:18 → 281
      GBP; Guanylate-binding protein, N-terminal domain
      cd16269
      Location:289 → 579
      GBP_C; Guanylate-binding protein, C-terminal domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      89364059..89388160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540835.4 → XP_011539137.1  guanylate-binding protein 6 isoform X1

      See identical proteins and their annotated locations for XP_011539137.1

      UniProtKB/Swiss-Prot
      A2RRM3, Q6ZN66, Q6ZN86, Q7Z3F0
      UniProtKB/TrEMBL
      B0AZP3
      Conserved Domains (3) summary
      pfam02841
      Location:283 → 579
      GBP_C; Guanylate-binding protein, C-terminal domain
      pfam02263
      Location:18 → 281
      GBP; Guanylate-binding protein, N-terminal domain
      cd16269
      Location:289 → 579
      GBP_C; Guanylate-binding protein, C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      89207077..89231426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334712.1 → XP_054190687.1  guanylate-binding protein 6 isoform X1

    2. XM_054334711.1 → XP_054190686.1  guanylate-binding protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZN66.1 GenPept UniProtKB/Swiss-Prot:Q6ZN66

    Gene LinkOut

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

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