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FLASH GENE

Symbol

GBF1

contributors: mct - updated : 10-11-2020

HGNC name	golgi brefeldin A resistant guanine nucleotide exchange factor 1
HGNC id	4181

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	137.37 kb     40 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004193 40 - 6400 NP_004184 206.5 1859 - 2003 12646181 NM_001377141 40 - 6499 NP_001364070 - 1859 - 2003 12646181 NM_001199379 40 - 6388 NP_001186308 - 1855 - 2003 12646181 NM_001199378 40 - 6391 NP_001186307 - 1856 - 2003 12646181 NM_001377137 40 - 6403 NP_001364066 - 1860 - 2003 12646181 NM_001377138 40 - 6352 NP_001364067 - 1843 - 2003 12646181 NM_001377139 38 - 6106 NP_001364068 - 1761 - 2003 12646181 NM_001377140 37 - 6094 NP_001364069 - 1757 - 2003 12646181

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       predominantly Nervous brain       highly Mus musculus   spinal cord       highly Mus musculus Reproductive male system testis     predominantly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum skeletal   highly Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a central Sec7 domain involved in transport between to and from Golgi
	an abundance of acidic residues and a proline rich region, USO1-binding (pro-rich) region leading to Golgi disruption
	HDS1 and HDS2 domains in the C-terminal half of GBF1 that are required for the recruitment of GBF1 to Golgi membranes via a putative receptor , and the lipid-binding domain (HDS1) immediately downstream of the catalytic Sec7 domainmediates association with both lipid droplets and Golgi membranes in cells

HOMOLOGY

interspecies	homolog to murine Gbf1 (94.0pc)
	homolog to rattus Gbf1 (94.1pc)

Homologene

FAMILY

guanine-nucleotide exchange factor (GEF) of the Sec7 domain family

CATEGORY

regulatory , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,peroxisome
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,cytosolic
text	primary cytosolic, colocalizing with COPB1 in a perinuclear structure
	GBF1 acts at the cis-Golgi, whereas ARFGEF1 and its close paralog ARFGEF2 act at the trans-Golgi

basic FUNCTION	large nucleotide exchange factor for the ADP-ribosylation factor
	guanine nucleotide-exchange protein for ADP-ribosylation factor predominantly toured ARF6, putatively involved in retrograde trafficking
	required for Golgi-localized, gamma-ear-containing, ADP ribosylation factor (Arf)-binding proteins (GGA) recruitment to Golgi membranes and plays a role in the proper processing and sorting of lysosomal cargo
	required for COPI recruitment, Golgi subcompartmentalization, and cargo progression to the cell surface
	regulates COPI membrane recruitment in the early secretory pathway
	promotes the activation of ARF5 through replacement of GDP with GTP
	GBF1 and ARF1 function in vesicular trafficking, lipid homoeostasis and organelle dynamics
	ARF1 small G protein and its activator GBF1 are important regulators of Golgi organization, maintaining its morphology and function
	is mainly involved in the formation of coatomer protein complex (COPI) vesicles, maintenance and function of the Golgi apparatus, and mitochondria migration and positioning
	protein plays an important yet unexplored role in neuronal development and maintenance
	GBF1 is a central player in molecular pathways that are necessary for Golgi apparatus (GA) maintenance, structure, and function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	to and from Golgi

PATHWAY

metabolism

signaling

AMPK-GBF1-ARF1 signaling is involved in the regulation of Golgi fragmentation during mitosis

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with USO1 (interacting domains were mapped to the proline-rich region of GBF1 and the head region of USO1)
	GBF1 and PNPLA2 interact directly and in cells, through multiple contact sites on each protein (interaction that may be involved in the membrane trafficking pathway mediated by GBF1, Arf1 and COPI, contributing to the localization of ATGL to lipid droplets)
	GBF1-activated ARFs (ARF4 and ARF5, but not ARF3) facilitate ARFGEF1 and ARFGEF2 recruitment to the trans-Golgi network (TGN)
	GBF1 recruitment requires ARF-GDP myristoylation-dependent interactions suggesting regulation of a membrane-bound factor
	GBF1 and ARF4 synergize with the sensory receptor cargo, RHO, to regulate ciliary membrane trafficking
	physical interaction between GBF1 and RHOT1, RHOT2, and also between the active GTP-bound form of ARF1 and RHOT1, RHOT2 (

cell & other

REGULATION

inhibited by

brefeldin A

Other

phosphorylated by CDK1-cyclin b in mitosis, resulting in its dissociation from Golgi membranes which is important for changes in Golig dynamics (Morohashi 2010)

ASSOCIATED DISORDERS

corresponding disease(s)

CMT2DD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS