Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8729
Gene name Gene Name - the full gene name approved by the HGNC.	Golgi brefeldin A resistant guanine nucleotide exchange factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GBF1
Synonyms (NCBI Gene) Gene synonyms aliases	ARF1GEF, CMT2GG, CMTDI2, CMTDIA
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CMT2GG
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.32
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi appar

Show/Hide all(189)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016484	hsa-miR-193b-3p	Proteomics	21512034
MIRT025834	hsa-miR-7-5p	Microarray	19073608
MIRT052590	hsa-let-7a-5p	CLASH	23622248
MIRT052334	hsa-let-7b-5p	CLASH	23622248
MIRT051381	hsa-let-7f-5p	CLASH	23622248
MIRT110273	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT110266	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT125673	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440586	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440584	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT110273	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT110265	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT110275	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT110268	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT110279	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT110266	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT125673	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440586	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440584	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT1013804	hsa-miR-106a	CLIP-seq
MIRT1013805	hsa-miR-106b	CLIP-seq
MIRT1013806	hsa-miR-1208	CLIP-seq
MIRT1013807	hsa-miR-1273g	CLIP-seq
MIRT1013808	hsa-miR-140-5p	CLIP-seq
MIRT1013809	hsa-miR-1587	CLIP-seq
MIRT1013810	hsa-miR-17	CLIP-seq
MIRT1013811	hsa-miR-1915	CLIP-seq
MIRT1013812	hsa-miR-20a	CLIP-seq
MIRT1013813	hsa-miR-20b	CLIP-seq
MIRT1013814	hsa-miR-2467-3p	CLIP-seq
MIRT1013815	hsa-miR-3136-3p	CLIP-seq
MIRT1013816	hsa-miR-3147	CLIP-seq
MIRT1013817	hsa-miR-3153	CLIP-seq
MIRT1013818	hsa-miR-3678-3p	CLIP-seq
MIRT1013819	hsa-miR-3689d	CLIP-seq
MIRT1013820	hsa-miR-4261	CLIP-seq
MIRT1013821	hsa-miR-4268	CLIP-seq
MIRT1013822	hsa-miR-4273	CLIP-seq
MIRT1013823	hsa-miR-4448	CLIP-seq
MIRT1013824	hsa-miR-4481	CLIP-seq
MIRT1013825	hsa-miR-4506	CLIP-seq
MIRT1013826	hsa-miR-4652-3p	CLIP-seq
MIRT1013827	hsa-miR-4668-5p	CLIP-seq
MIRT1013828	hsa-miR-4674	CLIP-seq
MIRT1013829	hsa-miR-4677-5p	CLIP-seq
MIRT1013830	hsa-miR-4685-5p	CLIP-seq
MIRT1013831	hsa-miR-4745-5p	CLIP-seq
MIRT1013832	hsa-miR-487a	CLIP-seq
MIRT1013833	hsa-miR-519a	CLIP-seq
MIRT1013834	hsa-miR-519b-3p	CLIP-seq
MIRT1013835	hsa-miR-519c-3p	CLIP-seq
MIRT1013836	hsa-miR-519d	CLIP-seq
MIRT1013837	hsa-miR-520g	CLIP-seq
MIRT1013838	hsa-miR-520h	CLIP-seq
MIRT1013839	hsa-miR-587	CLIP-seq
MIRT1013840	hsa-miR-663b	CLIP-seq
MIRT1013841	hsa-miR-759	CLIP-seq
MIRT1013842	hsa-miR-93	CLIP-seq
MIRT2000303	hsa-miR-1224-3p	CLIP-seq
MIRT2000304	hsa-miR-1914	CLIP-seq
MIRT2000305	hsa-miR-361-3p	CLIP-seq
MIRT2000306	hsa-miR-3943	CLIP-seq
MIRT2000307	hsa-miR-4265	CLIP-seq
MIRT1013821	hsa-miR-4268	CLIP-seq
MIRT2000308	hsa-miR-4296	CLIP-seq
MIRT2000309	hsa-miR-4322	CLIP-seq
MIRT2000310	hsa-miR-4417	CLIP-seq
MIRT1013823	hsa-miR-4448	CLIP-seq
MIRT1013826	hsa-miR-4652-3p	CLIP-seq
MIRT1013839	hsa-miR-587	CLIP-seq
MIRT1013840	hsa-miR-663b	CLIP-seq
MIRT1013804	hsa-miR-106a	CLIP-seq
MIRT1013805	hsa-miR-106b	CLIP-seq
MIRT2233722	hsa-miR-1245b-3p	CLIP-seq
MIRT2233723	hsa-miR-1266	CLIP-seq
MIRT1013807	hsa-miR-1273g	CLIP-seq
MIRT2233724	hsa-miR-1275	CLIP-seq
MIRT2233725	hsa-miR-1286	CLIP-seq
MIRT1013808	hsa-miR-140-5p	CLIP-seq
MIRT2233726	hsa-miR-1538	CLIP-seq
MIRT1013810	hsa-miR-17	CLIP-seq
MIRT1013812	hsa-miR-20a	CLIP-seq
MIRT1013813	hsa-miR-20b	CLIP-seq
MIRT2233727	hsa-miR-2277-3p	CLIP-seq
MIRT1013814	hsa-miR-2467-3p	CLIP-seq
MIRT1013816	hsa-miR-3147	CLIP-seq
MIRT1013817	hsa-miR-3153	CLIP-seq
MIRT2233728	hsa-miR-3155	CLIP-seq
MIRT2233729	hsa-miR-3155b	CLIP-seq
MIRT2000305	hsa-miR-361-3p	CLIP-seq
MIRT2233730	hsa-miR-3664-3p	CLIP-seq
MIRT1013818	hsa-miR-3678-3p	CLIP-seq
MIRT2233731	hsa-miR-3929	CLIP-seq
MIRT1013820	hsa-miR-4261	CLIP-seq
MIRT2233732	hsa-miR-4419b	CLIP-seq
MIRT2233733	hsa-miR-4436a	CLIP-seq
MIRT2233734	hsa-miR-4474-3p	CLIP-seq
MIRT2233735	hsa-miR-4478	CLIP-seq
MIRT1013824	hsa-miR-4481	CLIP-seq
MIRT2233736	hsa-miR-4518	CLIP-seq
MIRT2233737	hsa-miR-4639-3p	CLIP-seq
MIRT2233738	hsa-miR-4665-5p	CLIP-seq
MIRT1013827	hsa-miR-4668-5p	CLIP-seq
MIRT2233739	hsa-miR-4682	CLIP-seq
MIRT2233740	hsa-miR-4745-3p	CLIP-seq
MIRT1013831	hsa-miR-4745-5p	CLIP-seq
MIRT2233741	hsa-miR-484	CLIP-seq
MIRT2233742	hsa-miR-509-3p	CLIP-seq
MIRT1013833	hsa-miR-519a	CLIP-seq
MIRT1013834	hsa-miR-519b-3p	CLIP-seq
MIRT1013835	hsa-miR-519c-3p	CLIP-seq
MIRT1013836	hsa-miR-519d	CLIP-seq
MIRT1013837	hsa-miR-520g	CLIP-seq
MIRT1013838	hsa-miR-520h	CLIP-seq
MIRT1013839	hsa-miR-587	CLIP-seq
MIRT1013840	hsa-miR-663b	CLIP-seq
MIRT1013841	hsa-miR-759	CLIP-seq
MIRT1013842	hsa-miR-93	CLIP-seq
MIRT1013806	hsa-miR-1208	CLIP-seq
MIRT2429286	hsa-miR-3074-3p	CLIP-seq
MIRT1013822	hsa-miR-4273	CLIP-seq
MIRT1013826	hsa-miR-4652-3p	CLIP-seq
MIRT1013829	hsa-miR-4677-5p	CLIP-seq
MIRT2429287	hsa-miR-4729	CLIP-seq
MIRT2429288	hsa-miR-4795-3p	CLIP-seq
MIRT1013832	hsa-miR-487a	CLIP-seq
MIRT2450124	hsa-miR-22	CLIP-seq
MIRT2450125	hsa-miR-2355-5p	CLIP-seq
MIRT2450126	hsa-miR-3652	CLIP-seq
MIRT2450127	hsa-miR-4430	CLIP-seq
MIRT2450128	hsa-miR-4492	CLIP-seq
MIRT2450129	hsa-miR-4498	CLIP-seq
MIRT2450130	hsa-miR-558	CLIP-seq
MIRT2450131	hsa-miR-762	CLIP-seq
MIRT2233723	hsa-miR-1266	CLIP-seq
MIRT2233724	hsa-miR-1275	CLIP-seq
MIRT2537590	hsa-miR-188-3p	CLIP-seq
MIRT2537591	hsa-miR-193a-5p	CLIP-seq
MIRT2233727	hsa-miR-2277-3p	CLIP-seq
MIRT1013814	hsa-miR-2467-3p	CLIP-seq
MIRT2537592	hsa-miR-3148	CLIP-seq
MIRT2233728	hsa-miR-3155	CLIP-seq
MIRT2233729	hsa-miR-3155b	CLIP-seq
MIRT2000305	hsa-miR-361-3p	CLIP-seq
MIRT2233730	hsa-miR-3664-3p	CLIP-seq
MIRT2233731	hsa-miR-3929	CLIP-seq
MIRT2537593	hsa-miR-4283	CLIP-seq
MIRT2233732	hsa-miR-4419b	CLIP-seq
MIRT2233735	hsa-miR-4478	CLIP-seq
MIRT2537594	hsa-miR-4489	CLIP-seq
MIRT2233736	hsa-miR-4518	CLIP-seq
MIRT2233737	hsa-miR-4639-3p	CLIP-seq
MIRT2233738	hsa-miR-4665-5p	CLIP-seq
MIRT2233739	hsa-miR-4682	CLIP-seq
MIRT2537595	hsa-miR-4731-5p	CLIP-seq
MIRT2537596	hsa-miR-4753-3p	CLIP-seq
MIRT2233741	hsa-miR-484	CLIP-seq
MIRT2233742	hsa-miR-509-3p	CLIP-seq
MIRT2537597	hsa-miR-543	CLIP-seq
MIRT1013806	hsa-miR-1208	CLIP-seq
MIRT2233723	hsa-miR-1266	CLIP-seq
MIRT2233724	hsa-miR-1275	CLIP-seq
MIRT2537590	hsa-miR-188-3p	CLIP-seq
MIRT2537591	hsa-miR-193a-5p	CLIP-seq
MIRT2233727	hsa-miR-2277-3p	CLIP-seq
MIRT1013814	hsa-miR-2467-3p	CLIP-seq
MIRT2537592	hsa-miR-3148	CLIP-seq
MIRT2233728	hsa-miR-3155	CLIP-seq
MIRT2233729	hsa-miR-3155b	CLIP-seq
MIRT2000305	hsa-miR-361-3p	CLIP-seq
MIRT2233730	hsa-miR-3664-3p	CLIP-seq
MIRT2233731	hsa-miR-3929	CLIP-seq
MIRT1013822	hsa-miR-4273	CLIP-seq
MIRT2537593	hsa-miR-4283	CLIP-seq
MIRT2233732	hsa-miR-4419b	CLIP-seq
MIRT2233735	hsa-miR-4478	CLIP-seq
MIRT2537594	hsa-miR-4489	CLIP-seq
MIRT2233736	hsa-miR-4518	CLIP-seq
MIRT2233737	hsa-miR-4639-3p	CLIP-seq
MIRT1013826	hsa-miR-4652-3p	CLIP-seq
MIRT2233738	hsa-miR-4665-5p	CLIP-seq
MIRT1013829	hsa-miR-4677-5p	CLIP-seq
MIRT2233739	hsa-miR-4682	CLIP-seq
MIRT2537595	hsa-miR-4731-5p	CLIP-seq
MIRT2537596	hsa-miR-4753-3p	CLIP-seq
MIRT2233741	hsa-miR-484	CLIP-seq
MIRT2233742	hsa-miR-509-3p	CLIP-seq
MIRT2537597	hsa-miR-543	CLIP-seq
MIRT1013839	hsa-miR-587	CLIP-seq

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002263	Process	Cell activation involved in immune response	IMP	22573891
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	17956946, 19039328, 23572552, 31519766, 31570497
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	22573891
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	12047556
GO:0005794	Component	Golgi apparatus	IDA
GO:0005801	Component	Cis-Golgi network	IDA	12047556
GO:0005802	Component	Trans-Golgi network	IDA	23386609
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	12047556
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0006892	Process	Post-Golgi vesicle-mediated transport	TAS
GO:0006895	Process	Golgi to endosome transport	IMP	23386609
GO:0007030	Process	Golgi organization	IMP	12808027
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	23418352
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016032	Process	Viral process	IEA
GO:0030593	Process	Neutrophil chemotaxis	IMP	22573891
GO:0031252	Component	Cell leading edge	IDA	22573891
GO:0032012	Process	Regulation of ARF protein signal transduction	IEA
GO:0034067	Process	Protein localization to Golgi apparatus	IMP	17956946
GO:0042147	Process	Retrograde transport, endosome to Golgi	IMP	12808027
GO:0048205	Process	COPI coating of Golgi vesicle	IMP	12047556, 17956946
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0061162	Process	Establishment of monopolar cell polarity	IMP	22573891
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IMP	17956946
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IDA	22573891
GO:0090166	Process	Golgi disassembly	IMP	23418352
GO:0097111	Process	Endoplasmic reticulum-Golgi intermediate compartment organization	IMP	17956946
GO:0098586	Process	Cellular response to virus	IMP	28389568
GO:1903409	Process	Reactive oxygen species biosynthetic process	IMP	22573891
GO:1903420	Process	Protein localization to endoplasmic reticulum tubular network	IMP	17956946
GO:2000008	Process	Regulation of protein localization to cell surface	IMP	17956946

MIM	HGNC	e!Ensembl
603698	4181	ENSG00000107862

Protein

UniProt ID

Q92538

Protein name

Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 (BFA-resistant GEF 1)

Protein function

Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12783	Sec7_N	400 → 551	Guanine nucleotide exchange factor in Golgi transport N-terminal	Domain
PF01369	Sec7	699 → 884	Sec7 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MVDKNIYIIQGEINIVVGAIKRNARWSTHTPLDEERDPLLHSFGHLKEVLNSITELSEIE
PNVFLRPFLEVIRSEDTTGPITGLALTSVNKFLSYALIDPTHEGTAEGMENMADAVTHAR
FVGTDPASDEVVLMKILQVLRTLLLTPVGAHLTNESVCEIMQSCFRICFEMRLSELLRKS
AEHTLVDMVQLLFTRLPQFKEEPKNYVGTNMKKLKMRAGGMSDSSKWKKQKRSPRPPRHM
TKVTPGSELPTPNGTTLSSNLTGGMPFIDVPTPISSASSEAASAVVSPSTDSGLEFSSQT
TSKEDLTDLEQPGSPGYSTATEPGSSELGVPEQPDLQEGTHVEKSQSASVESIPEVLEEC
TSPADHSDSASVHDMDYVNPRGVRFTQSSQKEGTALVPYGLPCIRELFRFLISLTNPHDR
HNSEVMIHMGLHLLTVALESAPVAQCQTLLGLIKDEMCRHLFQLLSIERLNLYAASLRVC
FLLFESMREHLKFQMEMYIKKLMEIITVENPKMPYEMKEMALEAIVQLWRIPSFVTELYI
NYDCDYYCSNLFEELTKLLSKNAFPVSGQLYTTHLLSLDALLTVIDSTEAHCQAKVLNSL
TQQEKKETARPSCEIVDGTREASNTERTASDGKAVGMASDIPGLHLPGGGRLPPEHGKSG
CSDLEEAVDSGADKKFARKPPRFSCLLPDPRELIEIKNKKKLLITGTEQFNQKPKKGIQF
LQEKGLLTIPMDNTEVAQWLRENPRLDKKMIGEFVSDRKNIDLLESFVSTFSFQGLRLDE
ALRLYLEAFRLPGEAPVIQRLLEAFTERWMNCNGSPFANSDACFSLAYAVIMLNTDQHNH
NVRKQNAPMTLEEFRKNLKGVNGGKDFEQDILEDMYHAIKNEEIVMPEEQTGLVRENYVW
NVLLHRGATPEGIFLRVPTASYDLDLFTMTWGPTIAALSYVFDKSLEETIIQKAISGFRK
CAMISAHYGLSDVFDNLIISLCKFTALSSESIENLPSVFGSNPKAHIAAKTVFHLAHRHG
DILREGWKNIMEAMLQLFRAQLLPKAMIEVEDFVDPNGKISLQREETPSNRGESTVLSFV
SWLTLSGPEQSSVRGPSTENQEAKRVALECIKQCDPEKMITESKFLQLESLQELMKALVS
VTPDEETYDEEDAAFCLEMLLRIVLENRDRVGCVWQTVRDHLYHLCVQAQDFCFLVERAV
VGLLRLAIRLLRREEISAQVLLSLRILLLMKPSVLSRVSHQVAYGLHELLKTNAANIHSG
DDWATLFTLLECIGSGVKPPAALQATARADAPDAGAQSDSELPSYHQNDVSLDRGYTSDS
EVYTDHGRPGKIHRSATDADVVNSGWLVVGKDDVDNSKPGPSRPGPSPLINQYSLTVGLD
LGPHDTKSLLKCVESLSFIVRDAAHITPDNFELCVKTLRIFVEASLNGGCKSQEKRGKSH
KYDSKGNRFKKKSKEGSMLRRPRTSSQHASRGGQSDDDEDEGVPASYHTVSLQVSQDLLD
LMHTLHTRAASIYSSWAEEQRHLETGGQKIEADSRTLWAHCWCPLLQGIACLCCDARRQV
RMQALTYLQRALLVHDLQKLDALEWESCFNKVLFPLLTKLLENISPADVGGMEETRMRAS
TLLSKVFLQHLSPLLSLSTFAALWLTILDFMDKYMHAGSSDLLSEAIPESLKNMLLVMDT
AEIFHSADARGGGPSALWEITWERIDCFLPHLRDELFKQTVIQDPMPMEPQGQKPLASAH
LTSAAGDTRTPGHPPPPEIPSELGACDFEKPESPRAASSSSPGSPVASSPSRLSPTPDGP
PPLAQPPLILQPLASPLQVGVPPMTLPIILNPALIEATSPVPLLATPRPTDPIPTSEVN

Sequence length

1859

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		trans-Golgi Network Vesicle Budding VxPx cargo-targeting to cilium COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)	28892059

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Source
Unknown
Neuropathy	axonal neuropathy	GenCC
Parkinson Disease	Parkinson Disease	GWAS
Uterine Fibroids	Uterine Fibroids	GWAS
Epilepsy	Epilepsy	GWAS

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining
Charcot Marie Tooth Disease	Associate	39766823
Charcot Marie Tooth Disease Dominant Intermediate A	Associate	39766823
Charcot Marie Tooth disease X linked recessive 2	Associate	39766823
Demyelinating Diseases	Associate	39766823
Infections	Associate	31375590, 36305789
Neoplasms	Associate	36305789
Pulmonary Disease Chronic Obstructive	Associate	26736064

GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)