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Gene

PUM1

pumilio RNA binding family member 1

Summary

Cytogenetic location
1p35.2
Coordinates
Chromosome 1: 30,931,506–31,065,717 (GRCh38)
Exons
22 exons across 134.2 kb
Protein
1,188 amino acids
Inheritance
Autosomal dominant
Also known as
PUMH1, KIAA0099
MANE Select transcript
ENST00000426105.7NM_001020658.2
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 reports relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

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

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

Broader groupings

  • 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.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PUM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PUM1 sits. PUM1 and 9 genes near it on chromosome 1, from 30,498,612 to 31,498,611.Chromosome 11p35.2p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4430.6 Mb30.8 Mb31 Mb31.2 Mb31.4 Mb: 30,576,655–30,576,825, reverse strandMATN1: 30,711,277–30,723,585, reverse strandMATN1LAPTM5: 30,732,459–30,757,855, reverse strandLAPTM5SDC3: 30,869,466–30,908,813, reverse strandSDC3PUM1: 30,931,506–31,065,717, reverse strandPUM1NKAIN1: 31,179,084–31,239,992, reverse strandNKAIN1SNRNP40: 31,259,042–31,296,823, reverse strandSNRNP40ZCCHC17: 31,296,942–31,371,032, forward strandZCCHC17FABP3: 31,359,583–31,376,850, reverse strandFABP3SERINC2: 31,409,565–31,434,680, forward strandSERINC2Diagram of PUM1: 22 exons on the reverse strand of chromosome 1Exon 22: 1 known disease-causing siteExon 21: 2 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 2: 2 known disease-causing sitesExon 22: 30,931,506–30,933,342, 1,837 basesExon 21: 30,936,643–30,936,835, 193 basesExon 20: 30,941,151–30,941,272, 122 basesExon 19: 30,941,998–30,942,123, 126 basesExon 18: 30,945,346–30,945,483, 138 basesExon 17: 30,950,127–30,950,261, 135 basesExon 16: 30,952,234–30,952,363, 130 basesExon 15: 30,953,714–30,953,981, 268 basesExon 14: 30,964,674–30,964,910, 237 basesExon 13: 30,965,982–30,966,278, 297 basesExon 12: 30,967,167–30,967,310, 144 basesExon 11: 30,968,354–30,968,492, 139 basesExon 10: 30,974,651–30,974,802, 152 basesExon 9: 30,980,062–30,980,163, 102 basesExon 8: 30,981,312–30,981,405, 94 basesExon 7: 30,992,390–30,992,660, 271 basesExon 6: 30,995,054–30,995,220, 167 basesExon 5: 31,005,853–31,006,031, 179 basesExon 4: 31,006,994–31,007,102, 109 basesExon 3: 31,028,796–31,028,864, 69 basesExon 2: 31,059,204–31,059,577, 374 basesExon 1: 31,065,616–31,065,717, 102 bases22201510515′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 5.4 kb of the gene's 134.2 kb; 3,567 of those bases code for the protein.

How a genome test reads PUM1

13

positions in PUM1 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 134.2 kb of PUM1, introns included, not only the 5.4 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.). PUM1 gene: pumilio RNA binding family member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pum1

Vancouver

Dante Labs. PUM1 gene: pumilio RNA binding family member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pum1

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