Gene: NPHP3-ACAD11

Alternate names for this Gene: NPHP3

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: NPHP3-ACAD11 readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: UBA5

Alternate names for this Gene: DEE44|EIEE44|SCAR24|THIFP1|UBE1DC1

Gene Summary: This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1.

Gene is located in Chromosome: 3

Location in Chromosome : 3q22.1

Description of this Gene: ubiquitin like modifier activating enzyme 5

Type of Gene: protein-coding

rs114925667 in NPHP3-ACAD11;UBA5 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

rs886039762 in NPHP3-ACAD11;UBA5 gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 PMID 26872069 2016 UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.

rs114925667 in NPHP3-ACAD11;UBA5 gene and X-linked infantile spasms PMID 27926783 2017 A novel approach to assess the ubiquitin-fold modifier 1-system in cells.

PMID 27545681 2016 Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.

PMID 27545674 2016 Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

PMID 28965491 2017 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.