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

Gene ID: 163351, updated on 3-Apr-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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Location:
1p22.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (89364059..89388160)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (89207077..89231426)
105.20220307 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)

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

  • 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
  
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_2023_10

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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