Skip to content
Use your HSA or FSA funds

Gene

UBR1

ubiquitin protein ligase E3 component n-recognin 1

Summary

Cytogenetic location
15q15.2
Coordinates
Chromosome 15: 42,942,897–43,106,038 (GRCh38)
Exons
47 exons across 163.1 kb
Protein
1,749 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000290650.9NM_174916.3
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

  • Johanson-Blizzard Syndrome

    • Autosomal recessive

      A recessive condition caused by changes in UBR1, featuring congenital sensorineural hearing loss, exocrine pancreatic insufficiency, underdevelopment of the nose wings and other features.

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

      Knowing about it allows pancreatic enzyme replacement and hearing support to be started early.

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 UBR1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where UBR1 sits. UBR1 and 19 genes near it on chromosome 15, from 42,524,468 to 43,524,467.Chromosome 1515q15.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.342.6 Mb42.8 Mb43 Mb43.2 Mb43.4 MbSNAP23: 42,491,233–42,545,358, forward strandSNAP23: 42,497,395–42,548,786, reverse strandLRRC57: 42,534,627–42,548,802, reverse strandLRRC57HAUS2: 42,548,828–42,572,263, forward strandHAUS2STARD9: 42,575,574–42,720,998, forward strandSTARD9CDAN1: 42,723,544–42,737,156, reverse strandCDAN1TTBK2: 42,738,730–42,920,850, reverse strandTTBK2UBR1: 42,942,897–43,106,038, reverse strandUBR1TMEM62: 43,123,279–43,185,144, forward strandTMEM62: 43,179,715–43,206,481, reverse strandCCNDBP1: 43,185,118–43,197,177, forward strandCCNDBP1EPB42: 43,191,351–43,221,053, reverse strandEPB42TGM5: 43,232,590–43,266,933, reverse strandTGM5TGM7: 43,276,271–43,302,255, reverse strandTGM7LCMT2: 43,323,649–43,330,582, reverse strandLCMT2MAPDA: 43,329,654–43,355,418, forward strandMAPDAZSCAN29: 43,357,920–43,371,058, reverse strandZSCAN29TUBGCP4: 43,369,221–43,409,771, forward strandTUBGCP4TP53BP1: 43,403,061–43,510,728, reverse strandTP53BP1MAP1A: 43,510,946–43,531,620, forward strandMAP1ADiagram of UBR1: 47 exons on the reverse strand of chromosome 15Exon 43: 1 known disease-causing siteExon 41: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 32: 2 known disease-causing sitesExon 29: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 47: 42,942,897–42,945,470, 2,574 basesExon 46: 42,950,262–42,950,363, 102 basesExon 45: 42,952,278–42,952,448, 171 basesExon 44: 42,958,013–42,958,090, 78 basesExon 43: 42,960,645–42,960,701, 57 basesExon 42: 42,963,935–42,964,043, 109 basesExon 41: 42,966,153–42,966,286, 134 basesExon 40: 42,970,520–42,970,607, 88 basesExon 39: 42,976,717–42,976,867, 151 basesExon 38: 42,977,880–42,977,947, 68 basesExon 37: 42,983,897–42,983,993, 97 basesExon 36: 42,984,887–42,984,942, 56 basesExon 35: 42,988,819–42,988,967, 149 basesExon 34: 42,990,030–42,990,120, 91 basesExon 33: 42,998,168–42,998,265, 98 basesExon 32: 43,002,555–43,002,704, 150 basesExon 31: 43,003,837–43,003,930, 94 basesExon 30: 43,007,079–43,007,284, 206 basesExon 29: 43,015,688–43,015,869, 182 basesExon 28: 43,017,095–43,017,181, 87 basesExon 27: 43,021,275–43,021,375, 101 basesExon 26: 43,022,702–43,022,801, 100 basesExon 25: 43,024,829–43,024,983, 155 basesExon 24: 43,025,381–43,025,429, 49 basesExon 23: 43,026,561–43,026,663, 103 basesExon 22: 43,027,776–43,027,828, 53 basesExon 21: 43,029,944–43,030,068, 125 basesExon 20: 43,032,568–43,032,631, 64 basesExon 19: 43,036,178–43,036,279, 102 basesExon 18: 43,036,528–43,036,593, 66 basesExon 17: 43,037,773–43,037,883, 111 basesExon 16: 43,038,171–43,038,232, 62 basesExon 15: 43,043,215–43,043,395, 181 basesExon 14: 43,047,161–43,047,289, 129 basesExon 13: 43,048,392–43,048,491, 100 basesExon 12: 43,054,742–43,054,899, 158 basesExon 11: 43,056,344–43,056,442, 99 basesExon 10: 43,058,341–43,058,429, 89 basesExon 9: 43,059,085–43,059,192, 108 basesExon 8: 43,059,702–43,059,825, 124 basesExon 7: 43,060,052–43,060,114, 63 basesExon 6: 43,067,898–43,068,036, 139 basesExon 5: 43,070,795–43,070,925, 131 basesExon 4: 43,074,979–43,075,089, 111 basesExon 3: 43,082,638–43,082,716, 79 basesExon 2: 43,085,984–43,086,240, 257 basesExon 1: 43,105,942–43,106,038, 97 bases474540353025201510515′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 7.7 kb of the gene's 163.1 kb; 5,250 of those bases code for the protein.

How a genome test reads UBR1

17

positions in UBR1 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 163.1 kb of UBR1, introns included, not only the 7.7 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.). UBR1 gene: ubiquitin protein ligase E3 component n-recognin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ubr1

Vancouver

Dante Labs. UBR1 gene: ubiquitin protein ligase E3 component n-recognin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ubr1

One test. A lifetime of answers.

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

Get my Genome Test