Seroatlas · Human Serome Atlas

GBF1

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

Also known as: ARF1GEF, GBF1_HUMAN, KIAA0248

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q92538
Gene
GBF1
Ensembl
ENSG00000107862
Chromosome
10
Canonical length
1860 aa
Protein class
Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Golgi apparatus
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

1860 residues, UniProt reviewed canonical sequence.

>Q92538|GBF1
     1  MVDKNIYIIQ GEINIVVGAI KRNARWSTHT PLDEERDPLL HSFGHLKEVL NSITELSEIE
    61  PNVFLRPFLE VIRSEDTTGP ITGLALTSVN KFLSYALIDP THEGTAEGME NMADAVTHAR
   121  FVGTDPASDE VVLMKILQVL RTLLLTPVGA HLTNESVCEI MQSCFRICFE MRLSELLRKS
   181  AEHTLVDMVQ LLFTRLPQFK EEPKNYVGTN MKKLKMRAGG MSDSSKWKKQ KRSPRPPRHM
   241  TKVTPGSELP TPNGTTLSSN LTGGMPFIDV PTPISSASSE AASAVVSPST DSGLEFSSQT
   301  TSKEDLTDLE QPGSPGYSTA TEPGSSELGV PEQPDLQQEG THVEKSQSAS VESIPEVLEE
   361  CTSPADHSDS ASVHDMDYVN PRGVRFTQSS QKEGTALVPY GLPCIRELFR FLISLTNPHD
   421  RHNSEVMIHM GLHLLTVALE SAPVAQCQTL LGLIKDEMCR HLFQLLSIER LNLYAASLRV
   481  CFLLFESMRE HLKFQMEMYI KKLMEIITVE NPKMPYEMKE MALEAIVQLW RIPSFVTELY
   541  INYDCDYYCS NLFEELTKLL SKNAFPVSGQ LYTTHLLSLD ALLTVIDSTE AHCQAKVLNS
   601  LTQQEKKETA RPSCEIVDGT REASNTERTA SDGKAVGMAS DIPGLHLPGG GRLPPEHGKS
   661  GCSDLEEAVD SGADKKFARK PPRFSCLLPD PRELIEIKNK KKLLITGTEQ FNQKPKKGIQ
   721  FLQEKGLLTI PMDNTEVAQW LRENPRLDKK MIGEFVSDRK NIDLLESFVS TFSFQGLRLD
   781  EALRLYLEAF RLPGEAPVIQ RLLEAFTERW MNCNGSPFAN SDACFSLAYA VIMLNTDQHN
   841  HNVRKQNAPM TLEEFRKNLK GVNGGKDFEQ DILEDMYHAI KNEEIVMPEE QTGLVRENYV
   901  WNVLLHRGAT PEGIFLRVPT ASYDLDLFTM TWGPTIAALS YVFDKSLEET IIQKAISGFR
   961  KCAMISAHYG LSDVFDNLII SLCKFTALSS ESIENLPSVF GSNPKAHIAA KTVFHLAHRH
  1021  GDILREGWKN IMEAMLQLFR AQLLPKAMIE VEDFVDPNGK ISLQREETPS NRGESTVLSF
  1081  VSWLTLSGPE QSSVRGPSTE NQEAKRVALE CIKQCDPEKM ITESKFLQLE SLQELMKALV
  1141  SVTPDEETYD EEDAAFCLEM LLRIVLENRD RVGCVWQTVR DHLYHLCVQA QDFCFLVERA
  1201  VVGLLRLAIR LLRREEISAQ VLLSLRILLL MKPSVLSRVS HQVAYGLHEL LKTNAANIHS
  1261  GDDWATLFTL LECIGSGVKP PAALQATARA DAPDAGAQSD SELPSYHQND VSLDRGYTSD
  1321  SEVYTDHGRP GKIHRSATDA DVVNSGWLVV GKDDVDNSKP GPSRPGPSPL INQYSLTVGL
  1381  DLGPHDTKSL LKCVESLSFI VRDAAHITPD NFELCVKTLR IFVEASLNGG CKSQEKRGKS
  1441  HKYDSKGNRF KKKSKEGSML RRPRTSSQHA SRGGQSDDDE DEGVPASYHT VSLQVSQDLL
  1501  DLMHTLHTRA ASIYSSWAEE QRHLETGGQK IEADSRTLWA HCWCPLLQGI ACLCCDARRQ
  1561  VRMQALTYLQ RALLVHDLQK LDALEWESCF NKVLFPLLTK LLENISPADV GGMEETRMRA
  1621  STLLSKVFLQ HLSPLLSLST FAALWLTILD FMDKYMHAGS SDLLSEAIPE SLKNMLLVMD
  1681  TAEIFHSADA RGGGPSALWE ITWERIDCFL PHLRDELFKQ TVIQDPMPME PQGQKPLASA
  1741  HLTSAAGDTR TPGHPPPPEI PSELGACDFE KPESPRAASS SSPGSPVASS PSRLSPTPDG
  1801  PPPLAQPPLI LQPLASPLQV GVPPMTLPII LNPALIEATS PVPLLATPRP TDPIPTSEVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GBF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
68 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 68 nTPM
  • heart muscle: 59 nTPM
  • liver: 53 nTPM
  • pituitary gland: 48 nTPM
  • kidney: 45 nTPM
  • cerebral cortex: 44 nTPM

Single-cell type

  • myonuclei: 551 nCPM
  • somatotrophs: 346 nCPM
  • choroid plexus epithelial cells: 332 nCPM
  • plasma cells: 315 nCPM
  • cardiomyocytes: 313 nCPM
  • lactotrophs: 295 nCPM

Immune cell

  • basophil: 29 nTPM
  • T-reg: 7.4 nTPM
  • memory B-cell: 6.6 nTPM
  • memory CD8 T-cell: 6.5 nTPM
  • MAIT T-cell: 6 nTPM
  • naive CD4 T-cell: 5.8 nTPM

Brain region

  • midbrain: 59 nTPM
  • cerebral cortex: 54 nTPM
  • choroid plexus: 51 nTPM
  • hippocampal formation: 45 nTPM
  • amygdala: 44 nTPM
  • pons: 44 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GBF1.

Disease | AllUniProt

Conditions GBF1 is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, axonal, type 2GG (CMT2GG) MIM:606483

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 326 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Motor axonal neuropathy
  • Charcot-Marie-Tooth Disease, axonal, type 2GG

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.55
gnomAD pLI
0
gnomAD missense Z
2.41
DepMap mean gene effect
-0.99
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GBF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GBF1 as an antibody target. Whether an autoantibody or antibody against GBF1 could matter depends on whether native GBF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GBF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label GBF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GBF1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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