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Gene

PUS1

pseudouridine synthase 1

Summary

Cytogenetic location
12q24.33
Coordinates
Chromosome 12: 131,929,276–131,945,896 (GRCh38)
Exons
6 exons across 16.6 kb
Protein
427 amino acids
Also known as
MLASA1
MANE Select transcript
ENST00000376649.8NM_025215.6
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

  • Hereditary Sideroblastic Anaemias

    • Inherited Sideroblastic Anaemia

      A group of conditions caused by changes in genes such as ALAS2 and ABCB7 (X-linked), SLC25A38, GLRX5, PUS1, YARS2 and TRNT1 (recessive) and HSPA9 (dominant); some forms also affect the muscles, nervous system or immune system.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      The X-linked ALAS2 form often responds to vitamin B6 (pyridoxine), and a diagnosis guides iron-overload monitoring and distinguishes these conditions from acquired myelodysplastic syndrome.

How PUS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PUS1 sits. PUS1 and 7 genes near it on chromosome 12, from 131,437,586 to 132,437,585.Chromosome 1212q24.33p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33131.6 Mb131.8 Mb132 Mb132.2 Mb132.4 MbSFSWAP: 131,711,079–131,799,738, forward strandSFSWAPMMP17: 131,828,393–131,853,860, forward strandMMP17ULK1: 131,894,596–131,923,161, forward strandULK1PUS1: 131,929,276–131,945,896, forward strandPUS1EP400: 131,949,798–132,080,460, forward strandEP400DDX51: 132,136,591–132,144,354, reverse strandDDX51NOC4L: 132,144,408–132,152,473, forward strandNOC4LGALNT9: 132,195,855–132,329,616, reverse strandGALNT9Diagram of PUS1: 6 exons on the forward strand of chromosome 12Exon 1: 3 known disease-causing sitesExon 2: 15 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 4: 9 known disease-causing sitesExon 5: 21 known disease-causing sitesExon 1: 131,929,276–131,929,796, 521 basesExon 2: 131,929,907–131,930,135, 229 basesExon 3: 131,932,175–131,932,312, 138 basesExon 4: 131,939,173–131,939,275, 103 basesExon 5: 131,941,292–131,941,983, 692 basesExon 6: 131,943,539–131,945,896, 2,358 bases1234565′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 4 kb of the gene's 16.6 kb; 1,284 of those bases code for the protein.

How a genome test reads PUS1

58

positions in PUS1 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 16.6 kb of PUS1, introns included, not only the 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.). PUS1 gene: pseudouridine synthase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pus1

Vancouver

Dante Labs. PUS1 gene: pseudouridine synthase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pus1

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