• Gene id: 8729

Gene Summary

• Gene Symbol: GBF1   Gene   UCSC   Ensembl
• Aliases: ARF1GEF
• Gene name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
• Alternate names: Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1, BFA-resistant GEF 1,
• Gene location: 10q24.32 (102245530: 102382898)     Exons: 41     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 616184

Protein Summary

• Protein general information: Q92538  
  • Name: Golgi specific brefeldin A resistance guanine nucleotide exchange factor 1 (BFA resistant GEF 1)
  • Length: 1859  
  • Mass: 206446
  • Tissue specificity: Ubiquitous.
• Sequence:

  MVDKNIYIIQGEINIVVGAIKRNARWSTHTPLDEERDPLLHSFGHLKEVLNSITELSEIEPNVFLRPFLEVIRSE
  DTTGPITGLALTSVNKFLSYALIDPTHEGTAEGMENMADAVTHARFVGTDPASDEVVLMKILQVLRTLLLTPVGA
  HLTNESVCEIMQSCFRICFEMRLSELLRKSAEHTLVDMVQLLFTRLPQFKEEPKNYVGTNMKKLKMRAGGMSDSS
  KWKKQKRSPRPPRHMTKVTPGSELPTPNGTTLSSNLTGGMPFIDVPTPISSASSEAASAVVSPSTDSGLEFSSQT
  TSKEDLTDLEQPGSPGYSTATEPGSSELGVPEQPDLQEGTHVEKSQSASVESIPEVLEECTSPADHSDSASVHDM
  DYVNPRGVRFTQSSQKEGTALVPYGLPCIRELFRFLISLTNPHDRHNSEVMIHMGLHLLTVALESAPVAQCQTLL
  GLIKDEMCRHLFQLLSIERLNLYAASLRVCFLLFESMREHLKFQMEMYIKKLMEIITVENPKMPYEMKEMALEAI
  VQLWRIPSFVTELYINYDCDYYCSNLFEELTKLLSKNAFPVSGQLYTTHLLSLDALLTVIDSTEAHCQAKVLNSL
  TQQEKKETARPSCEIVDGTREASNTERTASDGKAVGMASDIPGLHLPGGGRLPPEHGKSGCSDLEEAVDSGADKK
  FARKPPRFSCLLPDPRELIEIKNKKKLLITGTEQFNQKPKKGIQFLQEKGLLTIPMDNTEVAQWLRENPRLDKKM
  IGEFVSDRKNIDLLESFVSTFSFQGLRLDEALRLYLEAFRLPGEAPVIQRLLEAFTERWMNCNGSPFANSDACFS
  LAYAVIMLNTDQHNHNVRKQNAPMTLEEFRKNLKGVNGGKDFEQDILEDMYHAIKNEEIVMPEEQTGLVRENYVW
  NVLLHRGATPEGIFLRVPTASYDLDLFTMTWGPTIAALSYVFDKSLEETIIQKAISGFRKCAMISAHYGLSDVFD
  NLIISLCKFTALSSESIENLPSVFGSNPKAHIAAKTVFHLAHRHGDILREGWKNIMEAMLQLFRAQLLPKAMIEV
  EDFVDPNGKISLQREETPSNRGESTVLSFVSWLTLSGPEQSSVRGPSTENQEAKRVALECIKQCDPEKMITESKF
  LQLESLQELMKALVSVTPDEETYDEEDAAFCLEMLLRIVLENRDRVGCVWQTVRDHLYHLCVQAQDFCFLVERAV
  VGLLRLAIRLLRREEISAQVLLSLRILLLMKPSVLSRVSHQVAYGLHELLKTNAANIHSGDDWATLFTLLECIGS
  GVKPPAALQATARADAPDAGAQSDSELPSYHQNDVSLDRGYTSDSEVYTDHGRPGKIHRSATDADVVNSGWLVVG
  KDDVDNSKPGPSRPGPSPLINQYSLTVGLDLGPHDTKSLLKCVESLSFIVRDAAHITPDNFELCVKTLRIFVEAS
  LNGGCKSQEKRGKSHKYDSKGNRFKKKSKEGSMLRRPRTSSQHASRGGQSDDDEDEGVPASYHTVSLQVSQDLLD
  LMHTLHTRAASIYSSWAEEQRHLETGGQKIEADSRTLWAHCWCPLLQGIACLCCDARRQVRMQALTYLQRALLVH
  DLQKLDALEWESCFNKVLFPLLTKLLENISPADVGGMEETRMRASTLLSKVFLQHLSPLLSLSTFAALWLTILDF
  MDKYMHAGSSDLLSEAIPESLKNMLLVMDTAEIFHSADARGGGPSALWEITWERIDCFLPHLRDELFKQTVIQDP
  MPMEPQGQKPLASAHLTSAAGDTRTPGHPPPPEIPSELGACDFEKPESPRAASSSSPGSPVASSPSRLSPTPDGP
  PPLAQPPLILQPLASPLQVGVPPMTLPIILNPALIEATSPVPLLATPRPTDPIPTSEVN

• Structural information:
  • Protein Domains: (692..88-)
    (/note="SEC7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00189"-)
  • Interpro: IPR016024  IPR023394  IPR000904  IPR035999  IPR032691  
  • Prosite: PS50190
  • CDD: cd00171
  • STRING: ENSP00000359000
• Other Databases: GeneCards:  GBF1  Malacards:  GBF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IDA	cellular component
GO:0005801	cis-Golgi network	IDA	cellular component
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0031252	cell leading edge	IDA	cellular component
GO:0005547	phosphatidylinositol-3,4,5-trisphosphate binding	IDA	molecular function
GO:0070973	protein localization to endoplasmic reticulum exit site	IMP	biological process
GO:0034067	protein localization to Golgi apparatus	IMP	biological process
GO:0097111	endoplasmic reticulum-Golgi intermediate compartment organization	IMP	biological process
GO:0048205	COPI coating of Golgi vesicle	IMP	biological process
GO:2000008	regulation of protein localization to cell surface	IMP	biological process
GO:0048205	COPI coating of Golgi vesicle	IMP	biological process
GO:0030593	neutrophil chemotaxis	IMP	biological process
GO:0090166	Golgi disassembly	IMP	biological process
GO:0007346	regulation of mitotic cell cycle	IMP	biological process
GO:0006895	Golgi to endosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903420	protein localization to endoplasmic reticulum tubular network	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0042147	retrograde transport, endosome to Golgi	IMP	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	biological process
GO:1903409	reactive oxygen species biosynthetic process	IMP	biological process
GO:0002263	cell activation involved in immune response	IMP	biological process
GO:0061162	establishment of monopolar cell polarity	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0032012	regulation of ARF protein signal transduction	IEA	biological process
GO:0005811	lipid droplet	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0006892	post-Golgi vesicle-mediated transport	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005086	ARF guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005086	ARF guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005801	cis-Golgi network	IEA	cellular component
GO:0005795	Golgi stack	IEA	cellular component
GO:0005788	endoplasmic reticulum lumen	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0098586	cellular response to virus	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq