C19orf47

Chromosome 19 open reading frame 47 is a protein that in humans is encoded by the C19orf47 gene. Aliases include Chromosome 19 Open Reading Frame 47, FLJ36888, DKZp686P05129, and LOCI26526.

Gene
Homo sapiens C19orf47 is located in cytogenetic band 19q13.2. It covers 28.98 kilobases from 40,854,420 to 40,825,543 on the minus strand. The gene has 8 exons in the isoform 1 precursor, the last of which is the longest and comprises over half of the mRNA transcript.

mRNA
Transcription of Homo sapiens C19orf47 produces 13 different mRNAs, with 12 alternatively spliced variants and 1 unspliced form. Isoforms and the proteins encoded by them are shown in the table below. Homo sapiens C19orf47 has broad expression in heart, testes, and other tissues.

Isoforms of C19orf47.

Protein
The C19orf47 gene isoform 1 precursor encodes for a 422 amino acid protein. The protein is located in the nucleoplasm and nucleus of the cell.

Interacting Proteins
The following proteins have predicted interactions with C19orf47. ''Interacting proteins with C19orf47 in humans. Notes with important information are shown.''

Homology
C19orf47 is found in organisms including mammals, reptiles, amphibian, fish, insects, and plant.

''Current orthologs of human C19orf47. Sequence identity and similarity are shown.''

Clinical Significance
One study discusses the identification of four novel mutations in the TUBB4A gene associated with laryngeal and cervical dystonia, a rare neurological disorder. These mutations were found in several affected families, and the study highlights the complexity of this genetic condition, with evidence of incomplete penetrance in some cases. Laryngeal dystonia, often the initial symptom, is a prominent feature of the disease. Of note, there was presence of a variant in the C19orf47 gene in one family. It was shown that the variant in the gene TUBB4A was more likely to be the source of the phenotype, as C19orf47 has low expression in the brain.