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Gene

XYLT1

xylosyltransferase 1

Summary

Cytogenetic location
16p12.3
Coordinates
Chromosome 16: 17,101,769–17,470,960 (GRCh38)
Exons
12 exons across 369.2 kb
Protein
959 amino acids
Inheritance
Autosomal recessive
Also known as
XT-I, PXYLT1
MANE Select transcript
ENST00000261381.7NM_022166.4
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

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How XYLT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where XYLT1 sits. XYLT1 and 0 genes near it on chromosome 16, from 16,732,577 to 17,840,152.Chromosome 1616p12.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.316.8 Mb17 Mb17.2 Mb17.4 Mb17.6 Mb17.8 MbXYLT1: 17,101,769–17,470,960, reverse strandXYLT1Diagram of XYLT1: 12 exons on the reverse strand of chromosome 16Exon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 12: 17,101,769–17,109,017, 7,249 basesExon 11: 17,117,646–17,117,979, 334 basesExon 10: 17,127,666–17,127,861, 196 basesExon 9: 17,134,473–17,134,735, 263 basesExon 8: 17,138,355–17,138,531, 177 basesExon 7: 17,141,153–17,141,369, 217 basesExon 6: 17,158,829–17,158,909, 81 basesExon 5: 17,198,212–17,198,414, 203 basesExon 4: 17,200,482–17,200,654, 173 basesExon 3: 17,258,988–17,259,498, 511 basesExon 2: 17,358,012–17,358,050, 39 basesExon 1: 17,470,434–17,470,960, 527 bases1210864215′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 10 kb of the gene's 369.2 kb; 2,880 of those bases code for the protein.

How a genome test reads XYLT1

6

positions in XYLT1 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 369.2 kb of XYLT1, introns included, not only the 10 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.). XYLT1 gene: xylosyltransferase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/xylt1

Vancouver

Dante Labs. XYLT1 gene: xylosyltransferase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/xylt1

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