Ubiquitin-Fold Modifier-Conjugating Enzyme 1

Alternative Names

  • UFC1
  • UFM1-Conjugating Enzyme 1
Back to search Result
OMIM Number

610554

Gene Map Locus
1q23.3

Description

The UFC1 gene encodes Ubiquitin-Fold Modifier-Conjugating Enzyme 1, a protein that acts as an E2-like enzyme that conjugates with UFM1 to form an intermediate.  This conjugation with UFM1 takes place via a thioester linkage at the UFC1 protein’s active site cysteine residue.  UFC1 is thus involved in the processes of protein ufmylation (the covalent attachment of the ubiquitin-like UFM1 to another protein) and protein K69-linked ufmylation (the attachment of a UFM1 polymer to a protein).  UFC1 is a component of the extracellular exosome and due to its molecular function, it is believed to be involved in the response to endoplasmic reticulum stress.

Molecular Genetics

The UFC1 gene is located on the long arm of chromosome 1.  It spans a length of 6 kb of DNA and its coding sequence is spread across just eight exons.  The protein product encoded by the UFC1 gene consists of 167 amino acids and has a molecular mass of 19 kDa.  The gene is found to be overexpressed in the skin.

Epidemiology in the Arab World

View Map

Other Reports

Saudi Arabia

Anazi et al. (2016) recruited a cohort of 337 Intellectual Disability (ID) patients to determine the effectiveness of genomic tools as a diagnostic test.  Exome sequencing uncovered a homozygous c.1495G>A (p.Val499Met) mutation in the UFC1 gene of a 16-year old girl and her 23-year old sister.  The patients were both wheelchair-bound and suffered from global developmental delays, spasticity, intention tremors, hyperreflexia and ataxia.  It was noted that the UFC1 gene regulates protein turnover.  Furthermore, the identified amino acid change was suggested to possibly result in local distortions that could affect catalytic activity or positioning of the UFC1 protein in a larger complex.

© CAGS 2024. All rights reserved.