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Entry version 187 (17 Jun 2020)
Sequence version 2 (01 Aug 1999)
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Protein

Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1

Gene

GBF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adapter protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891).By similarity2 Publications14 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by brefeldin A (BFA) (PubMed:15616190). Inhibited by golgicide A (GCA) (By similarity).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processHost-virus interaction, Protein transport, Transport
LigandLipid-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92538

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
Short name:
BFA-resistant GEF 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GBF1
Synonyms:KIAA0248
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000107862.4

Human Gene Nomenclature Database

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HGNCi
HGNC:4181 GBF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
603698 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q92538

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Lipid droplet, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi543D → A: Increases interaction with COPG1 and PNPLA2. 2 Publications1
Mutagenesisi794E → D: Inhibits Golgi membrane recruitment of GGA1, GGA2 and GGA3; generates misprocessing of PSAP. 1 Publication1
Mutagenesisi794E → K: Arrests retrograde ERGIC/cis-Golgi-to-ER transport at an early step and causes disassembly of the Golgi and disassociation of COP1 from membranes. 1 Publication1
Mutagenesisi832M → L: Confers BFA tolerance. 1 Publication1
Mutagenesisi1337T → A: Prevents 2-DG-induced Golgi disassembly. 1 Publication1

Organism-specific databases

DisGeNET

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DisGeNETi
8729

Open Targets

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OpenTargetsi
ENSG00000107862

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28595

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q92538 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GBF1

Domain mapping of disease mutations (DMDM)

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DMDMi
13124260

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001202101 – 1859Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1Add BLAST1859

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei349PhosphoserineCombined sources1
Modified residuei352PhosphoserineCombined sources1
Modified residuei507PhosphothreonineCombined sources1
Modified residuei662PhosphoserineCombined sources1
Modified residuei1298PhosphoserineCombined sources1
Modified residuei1316PhosphotyrosineCombined sources1
Modified residuei1318PhosphoserineCombined sources1
Modified residuei1320PhosphoserineCombined sources1
Modified residuei1335PhosphoserineCombined sources1
Modified residuei1337Phosphothreonine; by AMPK1 Publication1
Modified residuei1475PhosphoserineCombined sources1
Modified residuei1773PhosphoserineCombined sources1
Modified residuei1784PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

AMPK-mediated phosphorylation at Thr-1337 is induced by 2-deoxyglucose (2-DG) and AICA ribonucleotide, and occurs during mitosis leading to membrane disassociation and inactivation of ARF1 during mitosis.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92538

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92538

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q92538

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92538

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q92538

PeptideAtlas

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PeptideAtlasi
Q92538

PRoteomics IDEntifications database

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PRIDEi
Q92538

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
75296

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92538

MetOSite database of methionine sulfoxide sites

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MetOSitei
Q92538

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q92538

SwissPalm database of S-palmitoylation events

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SwissPalmi
Q92538

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107862 Expressed in muscle of leg and 208 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92538 HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000107862 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Can form homodimers and probably homotetramers (PubMed:17640864).

Interacts with COPG1; the interaction is independent on ARF1 activation (PubMed:19039328).

Interacts with ARF1, ARF3, ARF4 and ARF5 (PubMed:15616190, PubMed:17956946).

Interacts with RAB1B (GTP-bound form); required for GBF1 membrane association (PubMed:17429068).

Interacts with GGA1, GGA2 and GGA3 (PubMed:17666033).

Interacts with USO1 (PubMed:12634853).

Interacts (via SEC7 domain) with PNPLA2 (via C-terminus); the interaction is direct (PubMed:21789191).

Interacts with ARMH3 (PubMed:31519766).

By similarity2 Publications7 Publications

(Microbial infection) Interacts with poliovirus protein 3A.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
114268, 277 interactors

Protein interaction database and analysis system

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IntActi
Q92538, 38 interactors

Molecular INTeraction database

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MINTi
Q92538

STRING: functional protein association networks

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STRINGi
9606.ENSP00000359000

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q92538 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q92538

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini692 – 882SEC7PROSITE-ProRule annotationAdd BLAST191

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 380Interaction with RAB1B1 PublicationAdd BLAST380
Regioni1 – 211DCB; DCB:DCB domain and DCB:HUS domain interactionBy similarityAdd BLAST211
Regioni530 – 550HUS; DCB:HUS domain interactionBy similarityAdd BLAST21
Regioni886 – 1370Phosphatidylinositol-phosphate binding; required for translocation to the leading edge and for ARF1 activation upon GPCR signaling1 PublicationAdd BLAST485

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1751 – 1854Pro-richAdd BLAST104

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DCB (dimerization and cyclophiln-binding) and HUS (homology upstream of Sec7) domains are necessary for dimerization. The DCB domain is proposed to support constitutive homodimerization; the HUS domain interacts with the DCB domain which may occur intramolecular or intermolecular (By similarity).By similarity

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0928 Eukaryota
COG5307 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156925

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_001204_2_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92538

KEGG Orthology (KO)

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KOi
K18443

Identification of Orthologs from Complete Genome Data

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OMAi
DESVCEM

Database of Orthologous Groups

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OrthoDBi
815698at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92538

TreeFam database of animal gene trees

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TreeFami
TF105934

Family and domain databases

Conserved Domains Database

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CDDi
cd00171 Sec7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1000.11, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
IPR032691 Sec7_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF01369 Sec7, 1 hit
PF12783 Sec7_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00222 Sec7, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50190 SEC7, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92538-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVDKNIYIIQ GEINIVVGAI KRNARWSTHT PLDEERDPLL HSFGHLKEVL
60 70 80 90 100
NSITELSEIE PNVFLRPFLE VIRSEDTTGP ITGLALTSVN KFLSYALIDP
110 120 130 140 150
THEGTAEGME NMADAVTHAR FVGTDPASDE VVLMKILQVL RTLLLTPVGA
160 170 180 190 200
HLTNESVCEI MQSCFRICFE MRLSELLRKS AEHTLVDMVQ LLFTRLPQFK
210 220 230 240 250
EEPKNYVGTN MKKLKMRAGG MSDSSKWKKQ KRSPRPPRHM TKVTPGSELP
260 270 280 290 300
TPNGTTLSSN LTGGMPFIDV PTPISSASSE AASAVVSPST DSGLEFSSQT
310 320 330 340 350
TSKEDLTDLE QPGSPGYSTA TEPGSSELGV PEQPDLQEGT HVEKSQSASV
360 370 380 390 400
ESIPEVLEEC TSPADHSDSA SVHDMDYVNP RGVRFTQSSQ KEGTALVPYG
410 420 430 440 450
LPCIRELFRF LISLTNPHDR HNSEVMIHMG LHLLTVALES APVAQCQTLL
460 470 480 490 500
GLIKDEMCRH LFQLLSIERL NLYAASLRVC FLLFESMREH LKFQMEMYIK
510 520 530 540 550
KLMEIITVEN PKMPYEMKEM ALEAIVQLWR IPSFVTELYI NYDCDYYCSN
560 570 580 590 600
LFEELTKLLS KNAFPVSGQL YTTHLLSLDA LLTVIDSTEA HCQAKVLNSL
610 620 630 640 650
TQQEKKETAR PSCEIVDGTR EASNTERTAS DGKAVGMASD IPGLHLPGGG
660 670 680 690 700
RLPPEHGKSG CSDLEEAVDS GADKKFARKP PRFSCLLPDP RELIEIKNKK
710 720 730 740 750
KLLITGTEQF NQKPKKGIQF LQEKGLLTIP MDNTEVAQWL RENPRLDKKM
760 770 780 790 800
IGEFVSDRKN IDLLESFVST FSFQGLRLDE ALRLYLEAFR LPGEAPVIQR
810 820 830 840 850
LLEAFTERWM NCNGSPFANS DACFSLAYAV IMLNTDQHNH NVRKQNAPMT
860 870 880 890 900
LEEFRKNLKG VNGGKDFEQD ILEDMYHAIK NEEIVMPEEQ TGLVRENYVW
910 920 930 940 950
NVLLHRGATP EGIFLRVPTA SYDLDLFTMT WGPTIAALSY VFDKSLEETI
960 970 980 990 1000
IQKAISGFRK CAMISAHYGL SDVFDNLIIS LCKFTALSSE SIENLPSVFG
1010 1020 1030 1040 1050
SNPKAHIAAK TVFHLAHRHG DILREGWKNI MEAMLQLFRA QLLPKAMIEV
1060 1070 1080 1090 1100
EDFVDPNGKI SLQREETPSN RGESTVLSFV SWLTLSGPEQ SSVRGPSTEN
1110 1120 1130 1140 1150
QEAKRVALEC IKQCDPEKMI TESKFLQLES LQELMKALVS VTPDEETYDE
1160 1170 1180 1190 1200
EDAAFCLEML LRIVLENRDR VGCVWQTVRD HLYHLCVQAQ DFCFLVERAV
1210 1220 1230 1240 1250
VGLLRLAIRL LRREEISAQV LLSLRILLLM KPSVLSRVSH QVAYGLHELL
1260 1270 1280 1290 1300
KTNAANIHSG DDWATLFTLL ECIGSGVKPP AALQATARAD APDAGAQSDS
1310 1320 1330 1340 1350
ELPSYHQNDV SLDRGYTSDS EVYTDHGRPG KIHRSATDAD VVNSGWLVVG
1360 1370 1380 1390 1400
KDDVDNSKPG PSRPGPSPLI NQYSLTVGLD LGPHDTKSLL KCVESLSFIV
1410 1420 1430 1440 1450
RDAAHITPDN FELCVKTLRI FVEASLNGGC KSQEKRGKSH KYDSKGNRFK
1460 1470 1480 1490 1500
KKSKEGSMLR RPRTSSQHAS RGGQSDDDED EGVPASYHTV SLQVSQDLLD
1510 1520 1530 1540 1550
LMHTLHTRAA SIYSSWAEEQ RHLETGGQKI EADSRTLWAH CWCPLLQGIA
1560 1570 1580 1590 1600
CLCCDARRQV RMQALTYLQR ALLVHDLQKL DALEWESCFN KVLFPLLTKL
1610 1620 1630 1640 1650
LENISPADVG GMEETRMRAS TLLSKVFLQH LSPLLSLSTF AALWLTILDF
1660 1670 1680 1690 1700
MDKYMHAGSS DLLSEAIPES LKNMLLVMDT AEIFHSADAR GGGPSALWEI
1710 1720 1730 1740 1750
TWERIDCFLP HLRDELFKQT VIQDPMPMEP QGQKPLASAH LTSAAGDTRT
1760 1770 1780 1790 1800
PGHPPPPEIP SELGACDFEK PESPRAASSS SPGSPVASSP SRLSPTPDGP
1810 1820 1830 1840 1850
PPLAQPPLIL QPLASPLQVG VPPMTLPIIL NPALIEATSP VPLLATPRPT

DPIPTSEVN
Length:1,859
Mass (Da):206,446
Last modified:August 1, 1999 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5015D2BD70009CFA
GO
Isoform 2 (identifier: Q92538-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: Q → QQ
     1494-1497: Missing.

Show »
Length:1,856
Mass (Da):206,145
Checksum:iD860E5B3CBF664C7
GO
Isoform 3 (identifier: Q92538-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1494-1497: Missing.

Show »
Length:1,855
Mass (Da):206,016
Checksum:iF166270903224465
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A669KB10A0A669KB10_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,884Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A669KBG8A0A669KBG8_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,892Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA13379 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti24A → S in BAA13379 (PubMed:9039502).Curated1
Sequence conflicti459R → C in AK025330 (PubMed:14702039).Curated1
Sequence conflicti530R → C in AAI17682 (PubMed:15489334).Curated1
Sequence conflicti1811Q → R in AK025330 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0519261693G → S. Corresponds to variant dbSNP:rs11191274Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_057522337Q → QQ in isoform 2. 1
Alternative sequenceiVSP_0575231494 – 1497Missing in isoform 2 and isoform 3. 4

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF068755 mRNA Translation: AAD15903.1
D87435 mRNA Translation: BAA13379.2 Different initiation.
AK025330 mRNA No translation available.
AL121928 Genomic DNA No translation available.
AL160011 Genomic DNA No translation available.
AL356420 Genomic DNA No translation available.
BC007941 mRNA Translation: AAH07941.2
BC117681 mRNA Translation: AAI17682.1
BC117682 mRNA Translation: AAI17683.1
BC014171 mRNA Translation: AAH14171.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7533.1 [Q92538-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001186307.1, NM_001199378.1 [Q92538-2]
NP_001186308.1, NM_001199379.1 [Q92538-3]
NP_004184.1, NM_004193.2 [Q92538-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000369983; ENSP00000359000; ENSG00000107862 [Q92538-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
8729

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:8729

UCSC genome browser

More...
UCSCi
uc001kux.3 human [Q92538-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF068755 mRNA Translation: AAD15903.1
D87435 mRNA Translation: BAA13379.2 Different initiation.
AK025330 mRNA No translation available.
AL121928 Genomic DNA No translation available.
AL160011 Genomic DNA No translation available.
AL356420 Genomic DNA No translation available.
BC007941 mRNA Translation: AAH07941.2
BC117681 mRNA Translation: AAI17682.1
BC117682 mRNA Translation: AAI17683.1
BC014171 mRNA Translation: AAH14171.2
CCDSiCCDS7533.1 [Q92538-1]
RefSeqiNP_001186307.1, NM_001199378.1 [Q92538-2]
NP_001186308.1, NM_001199379.1 [Q92538-3]
NP_004184.1, NM_004193.2 [Q92538-1]

3D structure databases

SMRiQ92538
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114268, 277 interactors
IntActiQ92538, 38 interactors
MINTiQ92538
STRINGi9606.ENSP00000359000

PTM databases

iPTMnetiQ92538
MetOSiteiQ92538
PhosphoSitePlusiQ92538
SwissPalmiQ92538

Polymorphism and mutation databases

BioMutaiGBF1
DMDMi13124260

Proteomic databases

EPDiQ92538
jPOSTiQ92538
MassIVEiQ92538
MaxQBiQ92538
PaxDbiQ92538
PeptideAtlasiQ92538
PRIDEiQ92538
ProteomicsDBi75296

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
31405 100 antibodies

Genome annotation databases

EnsembliENST00000369983; ENSP00000359000; ENSG00000107862 [Q92538-1]
GeneIDi8729
KEGGihsa:8729
UCSCiuc001kux.3 human [Q92538-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
8729
DisGeNETi8729
EuPathDBiHostDB:ENSG00000107862.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GBF1
HGNCiHGNC:4181 GBF1
HPAiENSG00000107862 Low tissue specificity
MIMi603698 gene
neXtProtiNX_Q92538
OpenTargetsiENSG00000107862
PharmGKBiPA28595

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0928 Eukaryota
COG5307 LUCA
GeneTreeiENSGT00940000156925
HOGENOMiCLU_001204_2_0_1
InParanoidiQ92538
KOiK18443
OMAiDESVCEM
OrthoDBi815698at2759
PhylomeDBiQ92538
TreeFamiTF105934

Enzyme and pathway databases

ReactomeiR-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
SIGNORiQ92538

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
8729 672 hits in 786 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GBF1 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GBF1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
8729
PharosiQ92538 Tbio

Protein Ontology

More...
PROi
PR:Q92538
RNActiQ92538 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000107862 Expressed in muscle of leg and 208 other tissues
GenevisibleiQ92538 HS

Family and domain databases

CDDicd00171 Sec7, 1 hit
Gene3Di1.10.1000.11, 1 hit
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR023394 Sec7_C_sf
IPR000904 Sec7_dom
IPR035999 Sec7_dom_sf
IPR032691 Sec7_N
PfamiView protein in Pfam
PF01369 Sec7, 1 hit
PF12783 Sec7_N, 1 hit
SMARTiView protein in SMART
SM00222 Sec7, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
SSF48425 SSF48425, 1 hit
PROSITEiView protein in PROSITE
PS50190 SEC7, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBF1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92538
Secondary accession number(s): Q149P0
, Q149P1, Q5VXX3, Q96CK6, Q96HZ3, Q9H473
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1999
Last modified: June 17, 2020
This is version 187 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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