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Gene

GBF1

golgi brefeldin A resistant guanine nucleotide exchange factor 1

Summary

Cytogenetic location
10q24.32
Coordinates
Chromosome 10: 102,245,532–102,382,896 (GRCh38)
Exons
40 exons across 137.4 kb
Protein
1,860 amino acids
Also known as
KIAA0248, ARF1GEF
MANE Select transcript
ENST00000369983.5NM_001377137.1
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

        • 1 GenCC submitter rates it definitive or strong
        What knowing changes

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How GBF1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 10, with a bracket where GBF1 sits. GBF1 and 21 genes near it on chromosome 10, from 101,814,214 to 102,814,213.Chromosome 1010q24.32p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3102 Mb102.2 Mb102.4 Mb102.6 Mb102.8 MbOGA: 101,784,443–101,818,620, reverse strandOGAKCNIP2: 101,825,969–101,844,005, reverse strandKCNIP2ARMH3: 101,845,599–102,056,262, reverse strandARMH3HPS6: 102,065,349–102,068,036, forward strandHPS6LDB1: 102,106,489–102,120,451, reverse strandLDB1PPRC1: 102,132,994–102,150,333, forward strandPPRC1NOLC1: 102,152,170–102,163,875, forward strandNOLC1ELOVL3: 102,226,294–102,229,589, forward strandELOVL3PITX3: 102,229,754–102,241,512, reverse strandPITX3GBF1: 102,245,532–102,382,896, forward strandGBF1NFKB2: 102,394,110–102,402,529, forward strandNFKB2PSD: 102,402,614–102,421,539, reverse strandPSDFBXL15: 102,408,835–102,423,142, forward strandFBXL15CUEDC2: 102,423,239–102,432,718, reverse strandCUEDC2C10orf95: 102,449,619–102,451,548, reverse strandSLC68A1: 102,461,363–102,477,046, forward strandSLC68A1ACTR1A: 102,461,881–102,502,744, reverse strandACTR1ASUFU: 102,503,952–102,633,535, forward strandSUFUTRIM8: 102,642,394–102,662,789, forward strandTRIM8ARL3: 102,673,731–102,714,527, reverse strandARL3SFXN2: 102,714,476–102,743,492, forward strandSFXN2WBP1L: 102,743,923–102,834,613, forward strandWBP1LDiagram of GBF1: 40 exons on the forward strand of chromosome 10Exon 1: 102,245,532–102,245,781, 250 basesExon 2: 102,258,929–102,259,034, 106 basesExon 3: 102,260,050–102,260,116, 67 basesExon 4: 102,344,051–102,344,182, 132 basesExon 5: 102,351,256–102,351,374, 119 basesExon 6: 102,351,843–102,351,951, 109 basesExon 7: 102,352,458–102,352,518, 61 basesExon 8: 102,353,600–102,353,654, 55 basesExon 9: 102,358,039–102,358,186, 148 basesExon 10: 102,358,506–102,358,729, 224 basesExon 11: 102,359,267–102,359,435, 169 basesExon 12: 102,360,184–102,360,395, 212 basesExon 13: 102,361,022–102,361,120, 99 basesExon 14: 102,361,718–102,361,912, 195 basesExon 15: 102,362,475–102,362,664, 190 basesExon 16: 102,363,256–102,363,396, 141 basesExon 17: 102,363,710–102,363,798, 89 basesExon 18: 102,365,397–102,365,599, 203 basesExon 19: 102,366,383–102,366,506, 124 basesExon 20: 102,367,085–102,367,210, 126 basesExon 21: 102,367,478–102,367,560, 83 basesExon 22: 102,368,218–102,368,454, 237 basesExon 23: 102,368,739–102,368,832, 94 basesExon 24: 102,369,211–102,369,387, 177 basesExon 25: 102,369,711–102,369,775, 65 basesExon 26: 102,369,861–102,369,984, 124 basesExon 27: 102,370,174–102,370,245, 72 basesExon 28: 102,370,384–102,370,478, 95 basesExon 29: 102,370,707–102,370,860, 154 basesExon 30: 102,375,359–102,375,584, 226 basesExon 31: 102,376,272–102,376,432, 161 basesExon 32: 102,376,560–102,376,800, 241 basesExon 33: 102,376,935–102,377,140, 206 basesExon 34: 102,379,284–102,379,434, 151 basesExon 35: 102,379,521–102,379,651, 131 basesExon 36: 102,379,853–102,379,954, 102 basesExon 37: 102,380,249–102,380,362, 114 basesExon 38: 102,380,506–102,380,686, 181 basesExon 39: 102,381,127–102,381,255, 129 basesExon 40: 102,382,056–102,382,896, 841 bases1102030405′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 6.4 kb of the gene's 137.4 kb; 5,583 of those bases code for the protein.

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). GBF1 gene: golgi brefeldin A resistant guanine nucleotide exchange factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/gbf1

    Vancouver

    Dante Labs. GBF1 gene: golgi brefeldin A resistant guanine nucleotide exchange factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gbf1

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