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UniProtKB - Q92538 (GBF1_HUMAN)

Entry version 196 (25 May 2022)
Sequence version 2 (01 Aug 1999)
Previous versions | rss
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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).

Plays a role in maintaining mitochondrial morphology (PubMed:25190516).

By similarity2 Publications15 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92538

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q92538

SIGNOR Signaling Network Open Resource

More...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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

Human Gene Nomenclature Database

More...HGNCi		HGNC:4181, GBF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603698, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92538

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000107862

<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

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

More...DisGeNETi		8729

MalaCards human disease database

More...MalaCardsi		GBF1

Open Targets

More...OpenTargetsi		ENSG00000107862

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28595

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92538, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GBF1

Domain mapping of disease mutations (DMDM)

More...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

More...EPDi		Q92538

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92538

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92538

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92538

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

More...PaxDbi		Q92538

PeptideAtlas

More...PeptideAtlasi		Q92538

PRoteomics IDEntifications database

More...PRIDEi		Q92538

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75296

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q92538, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92538

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q92538

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

More...PhosphoSitePlusi		Q92538

SwissPalm database of S-palmitoylation events

More...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

More...Bgeei		ENSG00000107862, Expressed in muscle of leg and 221 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92538, HS

Organism-specific databases

Human Protein Atlas

More...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">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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114268, 393 interactors

Protein interaction database and analysis system

More...IntActi		Q92538, 44 interactors

Molecular INTeraction database

More...MINTi		Q92538

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359000

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q92538

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

More...SMRi		Q92538

Database of comparative protein structure models

More...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
Regioni215 – 266DisorderedSequence analysisAdd BLAST52
Regioni281 – 373DisorderedSequence analysisAdd BLAST93
Regioni530 – 550HUS; DCB:HUS domain interactionBy similarityAdd BLAST21
Regioni619 – 665DisorderedSequence analysisAdd BLAST47
Regioni886 – 1370Phosphatidylinositol-phosphate binding; required for translocation to the leading edge and for ARF1 activation upon GPCR signaling1 PublicationAdd BLAST485
Regioni1284 – 1335DisorderedSequence analysisAdd BLAST52
Regioni1350 – 1370DisorderedSequence analysisAdd BLAST21
Regioni1430 – 1483DisorderedSequence analysisAdd BLAST54
Regioni1725 – 1808DisorderedSequence analysisAdd BLAST84

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi246 – 265Polar residuesSequence analysisAdd BLAST20
Compositional biasi281 – 326Polar residuesSequence analysisAdd BLAST46
Compositional biasi1300 – 1318Polar residuesSequence analysisAdd BLAST19
Compositional biasi1319 – 1335Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi1774 – 1793Polar residuesSequence analysisAdd BLAST20
Compositional biasi1794 – 1808Pro residuesSequence analysisAdd BLAST15

<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

More...eggNOGi		KOG0928, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156925

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001204_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92538

Database of Orthologous Groups

More...OrthoDBi		815698at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92538

TreeFam database of animal gene trees

More...TreeFami		TF105934

Family and domain databases

Conserved Domains Database

More...CDDi		cd00171, Sec7, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1000.11, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00222, Sec7, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit
SSF48425, SSF48425, 1 hit

PROSITE; a protein domain and family database

More...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.<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 84 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 <p><strong>What is the canonical sequence?</strong><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 84 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A669KBG8A0A669KBG8_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,892Annotation score:

Annotation score:2 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>
A0A669KB10A0A669KB10_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,884Annotation score:

Annotation score:2 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>
A0A7I2V529A0A7I2V529_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,682Annotation score:

Annotation score:2 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>
A0A7P0RGV0A0A7P0RGV0_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,860Annotation 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>
A0A7I2V2L4A0A7I2V2L4_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,489Annotation 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>
A0A7I2V3Y5A0A7I2V3Y5_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,493Annotation 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>
A0A7I2V452A0A7I2V452_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,843Annotation 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>
A0A7I2V4K2A0A7I2V4K2_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,600Annotation 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>
A0A7I2V514A0A7I2V514_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,761Annotation 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>
A0A7I2YQM2A0A7I2YQM2_HUMAN
Golgi-specific brefeldin A-resistan...
GBF1
1,827Annotation 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>
There are more potential isoformsShow all

<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		ENST00000676513.1; ENSP00000503207.1; ENSG00000107862.7
ENST00000676939.1; ENSP00000503981.1; ENSG00000107862.7
ENST00000676993.1; ENSP00000503918.1; ENSG00000107862.7 [Q92538-3]
ENST00000677240.1; ENSP00000503428.1; ENSG00000107862.7 [Q92538-2]

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

<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

AlphaFoldDBiQ92538
SMRiQ92538
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114268, 393 interactors
IntActiQ92538, 44 interactors
MINTiQ92538
STRINGi9606.ENSP00000359000

PTM databases

GlyGeniQ92538, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ92538
MetOSiteiQ92538
PhosphoSitePlusiQ92538
SwissPalmiQ92538

Genetic variation 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, 108 antibodies from 20 providers

The DNASU plasmid repository

More...DNASUi		8729

Genome annotation databases

EnsembliENST00000676513.1; ENSP00000503207.1; ENSG00000107862.7
ENST00000676939.1; ENSP00000503981.1; ENSG00000107862.7
ENST00000676993.1; ENSP00000503918.1; ENSG00000107862.7 [Q92538-3]
ENST00000677240.1; ENSP00000503428.1; ENSG00000107862.7 [Q92538-2]
GeneIDi8729
KEGGihsa:8729
UCSCiuc001kux.3, human [Q92538-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		8729
DisGeNETi8729

GeneCards: human genes, protein and diseases

More...GeneCardsi		GBF1
HGNCiHGNC:4181, GBF1
HPAiENSG00000107862, Low tissue specificity
MalaCardsiGBF1
MIMi603698, gene
neXtProtiNX_Q92538
OpenTargetsiENSG00000107862
PharmGKBiPA28595
VEuPathDBiHostDB:ENSG00000107862

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0928, Eukaryota
GeneTreeiENSGT00940000156925
HOGENOMiCLU_001204_2_0_1
InParanoidiQ92538
OrthoDBi815698at2759
PhylomeDBiQ92538
TreeFamiTF105934

Enzyme and pathway databases

PathwayCommonsiQ92538
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
SignaLinkiQ92538
SIGNORiQ92538

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		8729, 710 hits in 1078 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 221 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

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: May 25, 2022
This is version 196 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 chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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