Gbf1 golgi-specific brefeldin A-resistance factor 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gbf1provided by MGI
Official Full Name: golgi-specific brefeldin A-resistance factor 1provided by MGI
Primary source: MGI:MGI:1861607
See related: Ensembl:ENSMUSG00000025224 AllianceGenome:MGI:1861607
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA0248; 1700083E03Rik
Summary: Predicted to enable phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,5-bisphosphate binding activity. Predicted to be involved in several processes, including Golgi disassembly; Golgi vesicle transport; and protein localization to organelle. Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum lumen; and endoplasmic reticulum-Golgi intermediate compartment. Is expressed in brain; embryo; and head. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate A. Orthologous to human GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 37.5), duodenum adult (RPKM 22.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.75 cM

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (46140948..46274949)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (46152509..46286510)

Chromosome 19 - NC_000085.7 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs.
Title: Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs.
an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
Title: The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).
novel interaction between p115 and Golgi-specific brefeldin-A-resistant factor 1 (GBF1)
Title: The membrane-tethering protein p115 interacts with GBF1, an ARF guanine-nucleotide-exchange factor.
GBF1 is recruited to the endogenous IRF-9 promoter, and interacts with C/EBP-beta, IL-1, and IL-6
Title: Development of monoclonal antibodies against GBF1 and their use in studying its functions.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW049900 (e-PCR)
- UniSTS:181254

Gbf1 (e-PCR), detects polymorphism
- UniSTS:256822

AI035702 (e-PCR)
- UniSTS:181247

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4,5-trisphosphate binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3,5-bisphosphate binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in COPI coating of Golgi vesicle	IEA Inferred from Electronic Annotation more info
involved_in COPI coating of Golgi vesicle	ISO Inferred from Sequence Orthology more info
involved_in Golgi disassembly	IEA Inferred from Electronic Annotation more info
involved_in Golgi disassembly	ISO Inferred from Sequence Orthology more info
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in Golgi to endosome transport	IEA Inferred from Electronic Annotation more info
involved_in Golgi to endosome transport	ISO Inferred from Sequence Orthology more info
involved_in cell activation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in cell activation involved in immune response	ISO Inferred from Sequence Orthology more info
involved_in cellular response to virus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to virus	ISO Inferred from Sequence Orthology more info
involved_in endoplasmic reticulum-Golgi intermediate compartment organization	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum-Golgi intermediate compartment organization	ISO Inferred from Sequence Orthology more info
involved_in establishment of monopolar cell polarity	IEA Inferred from Electronic Annotation more info
involved_in establishment of monopolar cell polarity	ISO Inferred from Sequence Orthology more info
involved_in neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in neutrophil chemotaxis	ISO Inferred from Sequence Orthology more info
involved_in protein localization to Golgi apparatus	IEA Inferred from Electronic Annotation more info
involved_in protein localization to Golgi apparatus	ISO Inferred from Sequence Orthology more info
involved_in protein localization to endoplasmic reticulum exit site	IEA Inferred from Electronic Annotation more info
involved_in protein localization to endoplasmic reticulum exit site	ISO Inferred from Sequence Orthology more info
involved_in protein localization to endoplasmic reticulum tubular network	IEA Inferred from Electronic Annotation more info
involved_in protein localization to endoplasmic reticulum tubular network	ISO Inferred from Sequence Orthology more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in reactive oxygen species biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of ARF protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in regulation of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to cell surface	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein localization to cell surface	ISO Inferred from Sequence Orthology more info
involved_in retrograde transport, endosome to Golgi	IEA Inferred from Electronic Annotation more info
involved_in retrograde transport, endosome to Golgi	ISO Inferred from Sequence Orthology more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi stack	IEA Inferred from Electronic Annotation more info
located_in Golgi stack	ISO Inferred from Sequence Orthology more info
located_in cell leading edge	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	ISO Inferred from Sequence Orthology more info
located_in cis-Golgi network	IEA Inferred from Electronic Annotation more info
located_in cis-Golgi network	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in peroxisome	IEA Inferred from Electronic Annotation more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1

Names: BFA-resistant GEF 1

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_178930.3 → NP_849261.2 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1

See identical proteins and their annotated locations for NP_849261.2

Status: PROVISIONAL

Source sequence(s)

BC076569

Consensus CDS

CCDS29873.1

UniProtKB/Swiss-Prot

Q6DFZ1

UniProtKB/TrEMBL

Q6A099

Related

ENSMUSP00000026254.8, ENSMUST00000026254.14

Conserved Domains (2) summary

pfam01369
Location:699 → 884

Sec7; Sec7 domain

pfam12783
Location:400 → 545

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

46140948..46274949

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526582.4 → XP_006526645.1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X3

UniProtKB/TrEMBL

Q6A099

Related

ENSMUST00000176992.8

Conserved Domains (4) summary

PHA03247
Location:1725 → 1855

PHA03247; large tegument protein UL36; Provisional

COG5307
Location:483 → 1002

COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]

pfam01369
Location:699 → 884

Sec7; Sec7 domain

pfam12783
Location:400 → 545

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
XM_006526580.4 → XP_006526643.1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X1

UniProtKB/TrEMBL

Q6A099

Conserved Domains (4) summary

PHA03247
Location:1730 → 1860

PHA03247; large tegument protein UL36; Provisional

COG5307
Location:484 → 1003

COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]

pfam01369
Location:700 → 885

Sec7; Sec7 domain

pfam12783
Location:401 → 546

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
XM_006526581.4 → XP_006526644.1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X2

UniProtKB/TrEMBL

Q6A099

Conserved Domains (4) summary

PHA03247
Location:1726 → 1856

PHA03247; large tegument protein UL36; Provisional

COG5307
Location:484 → 1003

COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]

pfam01369
Location:700 → 885

Sec7; Sec7 domain

pfam12783
Location:401 → 546

Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
XM_006526583.3 → XP_006526646.1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X4

Conserved Domains (3) summary

PHA03247
Location:979 → 1109

PHA03247; large tegument protein UL36; Provisional

COG5307
Location:20 → 412

COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]

pfam01369
Location:16 → 134

Sec7; Sec7 domain