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Gene

PQBP1

polyglutamine binding protein 1

Summary

Cytogenetic location
Xp11.23
Coordinates
Chromosome X: 48,897,930–48,903,143 (GRCh38)
Exons
7 exons across 5.2 kb
Protein
265 amino acids
Previous symbols
RENS1, MRXS8, SHS, MRX55, MRX2, MRXS3
MANE Select transcript
ENST00000447146.7NM_001032382.2
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

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How PQBP1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome X, with a bracket where PQBP1 sits. PQBP1 and 41 genes near it on chromosome X, from 48,400,537 to 49,400,536.Chromosome XXp11.23p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2848.6 Mb48.8 Mb49 Mb49.2 Mb49.4 MbSSX4B: 48,402,082–48,411,960, reverse strandSSX4BSLC38A5: 48,458,536–48,470,554, reverse strandSLC38A5FTSJ1: 48,476,021–48,486,364, forward strandFTSJ1PORCN: 48,508,574–48,520,814, forward strandPORCNEBP: 48,521,089–48,528,716, forward strandEBP: 48,521,806–48,545,469, forward strandTBC1D25: 48,539,623–48,562,613, forward strandTBC1D25RBM3: 48,574,056–48,581,162, forward strandRBM3WDR13: 48,589,838–48,608,869, forward strandWDR13WAS: 48,676,593–48,691,431, forward strandWASSUV39H1: 48,695,554–48,709,556, forward strandSUV39H1GLOD5: 48,761,744–48,773,648, forward strandGLOD5GATA1: 48,783,122–48,794,311, forward strandGATA1HDAC6: 48,801,372–48,824,986, forward strandHDAC6ERAS: 48,826,513–48,830,138, forward strandERASPCSK1N: 48,831,088–48,835,632, reverse strandPCSK1NTIMM17B: 48,880,274–48,898,143, reverse strandTIMM17BPQBP1: 48,897,930–48,903,143, forward strandPQBP1SLC35A2: 48,903,180–48,911,958, reverse strandSLC35A2PIM2: 48,913,172–48,919,546, reverse strandPIM2OTUD5: 48,922,024–48,958,390, reverse strandKCND1: 48,960,982–48,971,916, reverse strandKCND1GRIPAP1: 48,973,719–49,002,265, reverse strandGRIPAP1TFE3: 49,028,726–49,043,512, reverse strandTFE3CCDC120: 49,053,463–49,073,357, forward strandCCDC120PRAF2: 49,070,107–49,074,022, reverse strandPRAF2: 49,071,470–49,079,887, reverse strandWDR45: 49,074,431–49,101,203, reverse strandWDR45GPKOW: 49,112,941–49,123,750, reverse strandGPKOWMAGIX: 49,162,564–49,169,931, forward strandMAGIXPLP2: 49,171,787–49,175,387, forward strandPLP2PRICKLE3: 49,174,802–49,186,528, reverse strandPRICKLE3SYP: 49,187,807–49,200,218, reverse strandSYPCACNA1F: 49,205,063–49,233,371, reverse strandCCDC22: 49,235,444–49,250,526, forward strandCCDC22FOXP3: 49,250,436–49,264,800, reverse strandFOXP3: 49,258,343–49,270,477, reverse strandPPP1R3F: 49,269,771–49,301,468, forward strandPPP1R3FGAGE10: 49,303,645–49,319,844, forward strandGAGE10GAGE12J: 49,322,037–49,329,387, forward strandGAGE12JGAGE13: 49,331,575–49,338,952, forward strandGAGE13GAGE2E: 49,341,192–49,345,922, forward strandDiagram of PQBP1: 7 exons on the forward strand of chromosome XExon 2: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 6 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 1: 48,897,930–48,898,082, 153 basesExon 2: 48,898,492–48,898,576, 85 basesExon 3: 48,901,190–48,901,301, 112 basesExon 4: 48,901,930–48,902,042, 113 basesExon 5: 48,902,233–48,902,517, 285 basesExon 6: 48,902,732–48,902,795, 64 basesExon 7: 48,902,928–48,903,143, 216 bases12345675′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 1 kb of the gene's 5.2 kb; 798 of those bases code for the protein.

    How a genome test reads PQBP1

    21

    positions in PQBP1 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 5.2 kb of PQBP1, introns included, not only the 1 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.). PQBP1 gene: polyglutamine binding protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pqbp1

    Vancouver

    Dante Labs. PQBP1 gene: polyglutamine binding protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pqbp1

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