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Gene

SLC35D1

solute carrier family 35 member D1

Summary

Cytogenetic location
1p31.3
Coordinates
Chromosome 1: 66,999,350–67,054,148 (GRCh38)
Exons
12 exons across 54.8 kb
Protein
355 amino acids
Inheritance
Autosomal recessive
Also known as
UGTREL7, KIAA0260
MANE Select transcript
ENST00000235345.6NM_015139.3
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

  • Congenital Disorders of Glycosylation

    • Schneckenbecken DysplasiaAutosomal recessive

      A prenatally lethal skeletal dysplasia (chondrodysplasia with snail-like pelvis) caused by variants in the nucleotide-sugar transporter gene SLC35D1.

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

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 SLC35D1 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 SLC35D1 sits. SLC35D1 and 9 genes near it on chromosome 1, from 66,526,749 to 67,526,748.Chromosome 11p31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4466.6 Mb66.8 Mb67 Mb67.2 Mb67.4 MbSGIP1: 66,533,267–66,751,139, forward strandSGIP1DYNLT5: 66,751,741–66,779,051, forward strandDYNLT5INSL5: 66,797,740–66,801,276, reverse strandINSL5DNAI4: 66,812,885–66,924,890, reverse strandDNAI4MIER1: 66,924,895–66,989,411, forward strandMIER1SLC35D1: 66,999,350–67,054,148, reverse strandSLC35D1C1orf141: 67,092,005–67,231,853, reverse strandC1orf141IL23R: 67,138,907–67,265,873, forward strandIL23RIL12RB2: 67,307,364–67,398,724, forward strandIL12RB2SERBP1: 67,406,389–67,430,418, reverse strandSERBP1Diagram of SLC35D1: 12 exons on the reverse strand of chromosome 1Exon 11: 2 known disease-causing sitesExon 10: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 12: 66,999,350–67,004,448, 5,099 basesExon 11: 67,009,085–67,009,167, 83 basesExon 10: 67,020,369–67,020,447, 79 basesExon 9: 67,021,535–67,021,602, 68 basesExon 8: 67,042,236–67,042,328, 93 basesExon 7: 67,047,265–67,047,367, 103 basesExon 6: 67,049,782–67,049,850, 69 basesExon 5: 67,050,433–67,050,504, 72 basesExon 4: 67,052,012–67,052,079, 68 basesExon 3: 67,052,771–67,052,857, 87 basesExon 2: 67,052,956–67,052,989, 34 basesExon 1: 67,053,811–67,054,148, 338 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 6.2 kb of the gene's 54.8 kb; 1,068 of those bases code for the protein.

How a genome test reads SLC35D1

10

positions in SLC35D1 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 54.8 kb of SLC35D1, introns included, not only the 6.2 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.). SLC35D1 gene: solute carrier family 35 member D1. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc35d1

Vancouver

Dante Labs. SLC35D1 gene: solute carrier family 35 member D1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc35d1

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