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.
Abbreviated NameFull NameAdditional Notes
PARK2Parkin RBR E3 Ubiquitin Protein LigaseComponent of multiprotein E3 ubiquitin ligase complex. Mutations are known to cause Parkinson’s disease.
NSP3Non-structural protein 3SARS-CoV-2 protein
ORF14Open reading frame 14SARS-CoV-2 protein
MYCV-Myc Avian Myelocytomatosis Viral Oncogene Homolog 2 3Proto-oncogene, forms a heterodimer with related transcription factor for MAX.
DDX39BDExD-Box Helicase 39BRNA-dependent ATPase that mediates ATP hydrolysis during mRNA splicing.
C17orf85Nuclear Cap-Binding Protein Subunit 3Associates with NCBP1/CBP80 to form an alternative cap-binding complex which plays a key role in mRNA export.
NXF1Nuclear RNA Export Factor 1Member of a family of nuclear RNA export factor genes.
THOC2THO Complex 2Multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export.
YWHAQTyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Theta PolypeptideMediates signal transduction by binding to phosphoserine-containing proteins.

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.
C19orf47Genus, SpeciesCommon NameTaxonomic GroupDate of Divergence Accession NumberSequence Length IdentitySimilarity
MammaliaHomo sapiensHumanPrimates0NP_001243369.1422100.0%100.0%
MammaliaMus musculusMouseRodentia87XP_036009244.139775.5%80.2%
MammaliaCastor canadensisAmerican BeaverRodentia87XP_020022531.138271.3%74.7%
ReptiliaGopherus flavomarginatusBolson TortoiseTestudines319XP_050784538.138663.3%72.9%
ReptiliaDermochelys coriaceaLeatherback Sea TurtleTestudines319XP_038238045.244962.3%72.0%
ReptiliaVaranus komodoensisKomodo DragonSquamata319XP_044281356.139560.2%69.2%
ReptiliaAlligator sinensisChinese AlligatorCrocodylia319XP_025068843.138854.7%63.3%
AvesHaliaeetus leucocephalusBald EagleFalconiformes319XP_010564700.138060.2%69.1%
AvesPhalacrocorax carboGreat CormorantSuliformes319XP_009501755.138158.5%67.3%
AvesGallus gallusChickenGalliformes319XP_015129410.437436.6%45.5%
AmphibiaXenopus tropicalisFrogAnura352NP_001005016.139854.2%64.5%
FishProtopterus annectensWest African LungfishLepidosireniformes408XP_043937251.139346.4%57.0%
FishLatimeria chalumnaeWest Indian Ocean CoelacanthCoelacanthiformes415XP_014348608.138158.2%69.7%
FishDanio rerioZebrafishCypriniformes429NP_001038706.139248.6%59.5%
FishLeucoraja erinaceaLittle SkateRajiformes462XP_055519598.139553.0%64.2%
FishPetromyzon marinusSea LampreyPetromyzontiformes563XP_032803651.145241.6%52.4%
ArthropodsRhipicephalus sanguineusBrown Dog TickIxodida686XP_037499932.142829.3%39.9%
ArthropodsBiomphalaria glabrataBloodfluke PlanorbPlanorbidae686XP_055879100.137026.6%36.0%
ArthropodsPolistes fuscatusNorthern Paper WaspHymenoptera686XP_043494673.140924.1%39.3%
PlantsGossypium anomalumWild CottonMalvales1530KAG8495680.126611.5%20.6%

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.