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Gene

STXBP1

syntaxin binding protein 1

Summary

Cytogenetic location
9q34.11
Coordinates
Chromosome 9: 127,612,277–127,692,699 (GRCh38)
Exons
19 exons across 80.4 kb
Protein
594 amino acids
Also known as
hUNC18, MUNC18-1, UNC18, rbSec1, nSec1
MANE Select transcript
ENST00000373299.5NM_001032221.6
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

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong

    How STXBP1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 9, with a bracket where STXBP1 sits. STXBP1 and 26 genes near it on chromosome 9, from 127,152,488 to 128,152,487.Chromosome 99q34.11p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3127.2 Mb127.4 Mb127.6 Mb127.8 Mb128 MbRALGPS1: 126,914,761–127,223,166, forward strandRALGPS1GARNL3: 127,224,265–127,393,683, forward strandGARNL3SLC2A8: 127,397,131–127,408,424, forward strandSLC2A8ZNF79: 127,424,374–127,449,728, forward strandZNF79RPL12: 127,447,422–127,452,094, reverse strandRPL12LRSAM1: 127,451,469–127,503,503, forward strandLRSAM1NIBAN2: 127,505,339–127,579,049, reverse strandNIBAN2STXBP1: 127,612,277–127,692,699, forward strandSTXBP1PTRH1: 127,690,102–127,724,885, reverse strandPTRH1CFAP157: 127,706,979–127,716,002, forward strandCFAP157TTC16: 127,716,074–127,731,590, forward strandTTC16TOR2A: 127,731,516–127,735,355, reverse strandTOR2ASH2D3C: 127,738,317–127,778,771, reverse strandCDK9: 127,785,252–127,792,871, forward strandCDK9FPGS: 127,794,597–127,815,065, forward strandFPGSENG: 127,811,130–127,855,232, reverse strandENGAK1: 127,866,435–127,878,558, reverse strandAK1: 127,867,850–127,906,022, reverse strandST6GALNAC6: 127,885,320–127,906,632, reverse strandST6GALNAC6ST6GALNAC4: 127,906,919–127,917,057, reverse strandST6GALNAC4PIP5KL1: 127,920,881–127,930,823, reverse strandPIP5KL1DPM2: 127,935,090–127,937,879, reverse strandDPM2EEIG1: 127,939,491–127,981,075, reverse strandNAIF1: 128,061,233–128,068,206, reverse strandNAIF1SLC25A25: 128,068,169–128,109,245, forward strandSLC25A25PTGES2: 128,120,693–128,128,462, reverse strandPTGES2LCN2: 128,149,071–128,153,454, forward strandLCN2Diagram of STXBP1: 19 exons on the forward strand of chromosome 9Exon 1: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 8 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 16: 6 known disease-causing sitesExon 17: 5 known disease-causing sitesExon 18: 14 known disease-causing sitesExon 1: 127,612,277–127,612,440, 164 basesExon 2: 127,651,603–127,651,652, 50 basesExon 3: 127,653,715–127,653,796, 82 basesExon 4: 127,658,375–127,658,451, 77 basesExon 5: 127,660,030–127,660,108, 79 basesExon 6: 127,661,102–127,661,205, 104 basesExon 7: 127,663,205–127,663,353, 149 basesExon 8: 127,665,247–127,665,331, 85 basesExon 9: 127,666,166–127,666,296, 131 basesExon 10: 127,668,080–127,668,187, 108 basesExon 11: 127,669,898–127,669,958, 61 basesExon 12: 127,672,051–127,672,116, 66 basesExon 13: 127,673,181–127,673,261, 81 basesExon 14: 127,675,804–127,675,942, 139 basesExon 15: 127,676,644–127,676,753, 110 basesExon 16: 127,678,431–127,678,532, 102 basesExon 17: 127,680,157–127,680,242, 86 basesExon 18: 127,682,406–127,682,560, 155 basesExon 19: 127,690,775–127,692,699, 1,925 bases124681012141618195′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 3.8 kb of the gene's 80.4 kb; 1,785 of those bases code for the protein.

    How a genome test reads STXBP1

    141

    positions in STXBP1 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 80.4 kb of STXBP1, introns included, not only the 3.8 kb of exons.

    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.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • 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.). STXBP1 gene: syntaxin binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/stxbp1

    Vancouver

    Dante Labs. STXBP1 gene: syntaxin binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stxbp1

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