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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8729
Gene name	Golgi brefeldin A resistant guanine nucleotide exchange factor 1
Gene symbol	GBF1
Synonyms (NCBI Gene)	ARF1GEFCMT2GGCMTDI2CMTDIA
Chromosome	10
Chromosome location	10q24.32
Summary	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

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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 (49)

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	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005515	Function	Protein binding	IPI	17956946, 19039328, 23572552, 31519766, 31570497, 32296183
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	22573891
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IDA	12047556
GO:0005793	Component	Endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
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	IDA
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: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:0008289	Function	Lipid binding	IEA
GO:0010256	Process	Endomembrane system organization	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	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:0060271	Process	Cilium assembly	TAS
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:0098791	Component	Golgi apparatus subcompartment	IEA
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

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth Disease, axonal, type 2GG	Likely pathogenic; Pathogenic	rs2060541274, rs2060050669, rs2060161763, rs1299997613	RCV001730752 RCV001730753 RCV001730754 RCV001730755
Motor axonal neuropathy	Likely pathogenic; Pathogenic	rs2060541274, rs2060050669, rs2060161763, rs1299997613	RCV001249190 RCV001249193 RCV001250272 RCV001251623

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Charcot-Marie-Tooth disease, dominant intermediate A	Uncertain significance	rs376175528	RCV004556026
Cholangiocarcinoma	Benign	rs79933482	RCV005908085
Colon adenocarcinoma	Benign	rs79933482	RCV005908082
Gastric cancer	Benign	rs79933482	RCV005908084
GBF1-related disorder	Uncertain significance	rs751773741, rs200564979	RCV003404227 RCV003405947
Hepatocellular carcinoma	Benign	rs79933482	RCV005908083

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)