UBR1 ubiquitin protein ligase E3 component n-recognin 1

Gene info



Previous symbol


External ID

HGNC: 16808
Entrez Gene: 197131
Ensembl: ENSG00000159459
UCSC: uc001zqq.4
OMIM: 605981
UniProtKB: Q8IWV7

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Tetralogy of fallot

Extra Cardiac Phenotype

Short stature , Low birth weight , Failure to thrive , Microcephaly, Midline skin dimples over anterior/posterior fontanelles , Hearing loss, Cystic dilatation of cochlea and vestibulum , Strabismus , Cutaneolacrimal fistulae, Beaked nose, Hypoplastic alae nasi , Lacrimal puncta aplasia, Hypoplastic deciduous teeth, Absent permanent teeth, Small nipples, Absent areolae, Exocrine pancreatic insufficiency, Imperforate anus, Anteriorly placed anus, Liver failure, Micropenis, Hypospadias , Clitoromegaly , Cryptorchidism , Double vagina , Septate vagina , Urethrovaginal fistulae, Hydronephrosis , Calicectasis , Delayed bone age , Joint laxity, Fifth finger clinodactyly , Transverse palmar crease, Cafe-au-lait spots , Scalp aplasia cutis congenita , Blonde, sparse scalp hair , Frontal upsweep , Extension of lateral hairline onto forehead , 'Unruly' scalp hair, Anasarca , Edema (hands and feet), Mental retardation, Hypotonia, Hypothyroidism, Diabetes mellitus

Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for UBR1: BED file

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Selected References

  1. Elting, M., Kariminejad, A., de Sonnaville, M.-L., Ottenkamp, J., Bauhuber, S., Bozorgmehr, B., Zenker, M., & Cobben, J. M. (2008). Johanson-Blizzard syndrome caused by identicalUBR1mutations in two unrelated girls, one with a cardiomyopathy. American Journal of Medical Genetics Part A, 146A(23), 3058–3061. https://doi.org/10.1002/ajmg.a.32566 DOI:10.1002/ajmg.a.32566 PMID:19006206
  2. Alpay, F., Gül, D., Lenk, M. K., & Oğur, G. (2000). Severe Intrauterine Growth Retardation, Aged Facial Appearance, and Congenital Heart Disease in a Newborn with Johanson–Blizzard Syndrome. Pediatric Cardiology, 21(4), 389–390. https://doi.org/10.1007/s002460010089 DOI:10.1007/s002460010089 PMID:10865022
  3. Sukalo, M., Fiedler, A., Guzmán, C., Spranger, S., Addor, M.-C., Mcheik, J. N., Oltra Benavent, M., Cobben, J. M., Gillis, L. A., Shealy, A. G., Deshpande, C., Bozorgmehr, B., Everman, D. B., Stattin, E.-L., Liebelt, J., Keller, K.-M., Bertola, D. R., van Karnebeek, C. D. M., Bergmann, C., … Zenker, M. (2014). Mutations in the HumanUBR1Gene and the Associated Phenotypic Spectrum. Human Mutation, 35(5), 521–531. https://doi.org/10.1002/humu.22538 DOI:10.1002/humu.22538 PMID:24599544