Skip to content
Use your HSA or FSA funds

Gene

POGLUT1

protein O-glucosyltransferase 1

Summary

Cytogenetic location
3q13.33
Coordinates
Chromosome 3: 119,468,963–119,494,708 (GRCh38)
Exons
11 exons across 25.7 kb
Protein
392 amino acids
Also known as
MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi
Previous symbols
C3orf9, KTELC1
MANE Select transcript
ENST00000295588.9NM_152305.3
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

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

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • 3 GenCC submitters rate it definitive or strong

How POGLUT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where POGLUT1 sits. POGLUT1 and 17 genes near it on chromosome 3, from 118,981,836 to 119,981,835.Chromosome 33q13.33p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29119 Mb119.2 Mb119.4 Mb119.6 Mb119.8 MbIGSF11: 118,900,557–119,146,068, reverse strandIGSF11TEX55: 119,146,151–119,160,042, forward strandTEX55: 119,147,375–119,187,807, forward strandUPK1B: 119,173,516–119,205,758, forward strandUPK1BB4GALT4: 119,208,851–119,240,952, reverse strandB4GALT4ARHGAP31: 119,294,031–119,420,824, forward strandARHGAP31TMEM39A: 119,428,949–119,468,854, reverse strandTMEM39APOGLUT1: 119,468,963–119,494,708, forward strandPOGLUT1TIMMDC1: 119,498,515–119,525,090, forward strandTIMMDC1CD80: 119,523,073–119,580,616, reverse strandCD80ADPRH: 119,579,268–119,590,165, forward strandADPRHPLA1A: 119,597,808–119,629,818, forward strandPLA1APOPDC2: 119,636,457–119,665,324, reverse strandPOPDC2COX17: 119,654,513–119,677,621, reverse strandCOX17CFAP91: 119,702,990–119,767,102, forward strandCFAP91: 119,703,076–119,807,570, forward strandNR1I2: 119,780,484–119,818,718, forward strandNR1I2GSK3B: 119,821,321–120,095,712, reverse strandGSK3BDiagram of POGLUT1: 11 exons on the forward strand of chromosome 3Exon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 1: 119,468,963–119,469,106, 144 basesExon 2: 119,469,820–119,469,910, 91 basesExon 3: 119,471,309–119,471,452, 144 basesExon 4: 119,477,313–119,477,448, 136 basesExon 5: 119,480,051–119,480,172, 122 basesExon 6: 119,485,328–119,485,387, 60 basesExon 7: 119,486,833–119,486,932, 100 basesExon 8: 119,488,929–119,488,987, 59 basesExon 9: 119,490,551–119,490,718, 168 basesExon 10: 119,491,518–119,491,574, 57 basesExon 11: 119,492,282–119,494,708, 2,427 bases12345678910115′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 3.5 kb of the gene's 25.7 kb; 1,179 of those bases code for the protein.

How a genome test reads POGLUT1

2

positions in POGLUT1 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 25.7 kb of POGLUT1, introns included, not only the 3.5 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.). POGLUT1 gene: protein O-glucosyltransferase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/poglut1

Vancouver

Dante Labs. POGLUT1 gene: protein O-glucosyltransferase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/poglut1

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test