GBP7 guanylate binding protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GBP7provided by HGNC
Official Full Name: guanylate binding protein 7provided by HGNC
Primary source: HGNC:HGNC:29606
See related: Ensembl:ENSG00000213512 MIM:612468
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: GBP4L
Summary: Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
Expression: Biased expression in liver (RPKM 25.8) and lung (RPKM 0.3) See more
Orthologs: all

Genomic context

Location:: 1p22.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
109.20200815	current	GRCh38.p13 (GCF_000001405.39)	1	NC_000001.11 (89131742..89176003, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (89597434..89641723, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.

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

D1S3150 (e-PCR)
- UniSTS:60762

AL010053 (e-PCR)
- UniSTS:1250

Homology

Homologs of the GBP7 gene: The GBP7 gene is conserved in chimpanzee, mouse, and rat.
Orthologs from Annotation Pipeline: 14 organisms have orthologs with human gene GBP7
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GTP binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
GTPase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular response to interferon-gamma	IBA Inferred from Biological aspect of Ancestor more info	PubMed
defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info	PubMed
defense response to protozoan	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanylate-binding protein 7

Names: GBP-7; GTP-binding protein 7; guanine nucleotide-binding protein 7

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)

NM_207398.3 → NP_997281.2 guanylate-binding protein 7

See identical proteins and their annotated locations for NP_997281.2

Status: VALIDATED

Source sequence(s)

AC104459, AK096141

Consensus CDS

CCDS720.1

UniProtKB/Swiss-Prot

Q8N8V2

Related

ENSP00000294671.2, ENST00000294671.3

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