C19orf47
Хромосома 19 открытая кадра 47 - это белок , который у людей кодируется геном C19ORF47 . Псевдоним включают хромосому 19 открытого кадра 47, FLJ36888, DKZP686P05129 и LOCI26526. [ 1 ]
Ген
[ редактировать ]Homo Sapiens C19ORF47 расположен в цитогенетической полосе 19Q13.2. Он охватывает 28,98 килобаз от 40 854 420 до 40 825 5433 на минус. [ 2 ] Ген имеет 8 экзонов в предшественнике изоформы 1, последний из которых является самым длинным и включает в себя более половины транскрипта мРНК. [ 1 ]
МРНК
[ редактировать ]Транскрипция Homo Sapiens C19ORF47 производит 13 различных мРНК с 12 альтернативно сплайсированными вариантами и 1 не сплайкой формой. Изоформы и белки, кодируемые ими, показаны в таблице ниже. Homo Sapiens C19ORF47 имеет широкую экспрессию в сердце, яичках и других тканях.
Изоформы C19ORF47.
| Номер изоформы | Нуклеотидное вступление | Длина мРНК (BP) | Белок | Длина белка (AA) |
|---|---|---|---|---|
| НМ1 | NM_001256440.1 | 2104 | NP_001243369.1 | 422 |
| NM2 | NM_0012564441.2 | 3611 | NP_001243370.1 | 385 |
| X1 | XM_017026291.2 | 3608 | XP_016881780.1 | 384 |
| X2 | XM_005258520.3 | 3625 | XP_005258577.1 | 421 |
| X3 | XM_017026292.3 | 1407 | XP_016881781.1 | 366 |
| X4 | XM_017026293.3 | 1404 | XP_016881782.1 | 365 |
| X5 | XM_047438175.1 | 1421 | XP_047294131.1 | 402 |
| X6 | XM_024451364.2 | 3507 | XP_024307132.1 | 344 |
| X7 | XM_047438176.1 | 3504 | XP_047294132.1 | 343 |
| X8 | XM_024451365.2 | 4638 | XP_024307133.1 | 385 |
| X8 | XM_047438177.1 | 4671 | XP_047294133.1 | 385 |
| X9 | XM_011526460.3 | 3524 | XP_011524762.1 | 381 |
| X10 | XM_047438178.1 | 3668 | XP_047294134.1 | 355 |
| X11 | XM_047438179.1 | 3241 | XP_047294135.1 | 281 |
Protein
[edit]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
[edit]The following proteins have predicted interactions with C19orf47. Interacting proteins with C19orf47 in humans. Notes with important information are shown.
| Abbreviated Name | Full Name | Additional Notes |
|---|---|---|
| PARK2 | Parkin RBR E3 Ubiquitin Protein Ligase | Component of multiprotein E3 ubiquitin ligase complex. Mutations are known to cause Parkinson’s disease. |
| NSP3 | Non-structural protein 3 | SARS-CoV-2 protein |
| ORF14 | Open reading frame 14 | SARS-CoV-2 protein |
| MYC | V-Myc Avian Myelocytomatosis Viral Oncogene Homolog 2 3 | Proto-oncogene, forms a heterodimer with related transcription factor for MAX. |
| DDX39B | DExD-Box Helicase 39B | RNA-dependent ATPase that mediates ATP hydrolysis during mRNA splicing. |
| C17orf85 | Nuclear Cap-Binding Protein Subunit 3 | Associates with NCBP1/CBP80 to form an alternative cap-binding complex (CBC) which plays a key role in mRNA export. |
| NXF1 | Nuclear RNA Export Factor 1 | Member of a family of nuclear RNA export factor genes. |
| THOC2 | THO Complex 2 | Multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. |
| YWHAQ | Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein, Theta Polypeptide | Mediates signal transduction by binding to phosphoserine-containing proteins. |
Homology
[edit]C19orf47 is found in organisms including mammals, reptiles, amphibian, fish, insects, and plant.[3]
Current orthologs of human C19orf47. Sequence identity and similarity are shown.
| C19orf47 | Genus, Species | Common Name | Taxonomic Group | Date of Divergence (MYA) | Accession Number | Sequence Length (aa) | Identity | Similarity |
| Mammalia | Homo sapiens | Human | Primates | 0 | NP_001243369.1 | 422 | 100.0% | 100.0% |
| Mus musculus | Mouse | Rodentia | 87 | XP_036009244.1 | 397 | 75.5% | 80.2% | |
| Castor canadensis | American Beaver | Rodentia | 87 | XP_020022531.1 | 382 | 71.3% | 74.7% | |
| Reptilia | Gopherus flavomarginatus | Bolson Tortoise | Testudines | 319 | XP_050784538.1 | 386 | 63.3% | 72.9% |
| Dermochelys coriacea | Leatherback Sea Turtle | Testudines | 319 | XP_038238045.2 | 449 | 62.3% | 72.0% | |
| Varanus komodoensis | Komodo Dragon | Squamata | 319 | XP_044281356.1 | 395 | 60.2% | 69.2% | |
| Alligator sinensis | Chinese Alligator | Crocodylia | 319 | XP_025068843.1 | 388 | 54.7% | 63.3% | |
| Aves | Haliaeetus leucocephalus | Bald Eagle | Falconiformes | 319 | XP_010564700.1 | 380 | 60.2% | 69.1% |
| Phalacrocorax carbo | Great Cormorant | Suliformes | 319 | XP_009501755.1 | 381 | 58.5% | 67.3% | |
| Gallus gallus | Chicken | Galliformes | 319 | XP_015129410.4 | 374 | 36.6% | 45.5% | |
| Amphibia | Xenopus tropicalis | Frog | Anura | 352 | NP_001005016.1 | 398 | 54.2% | 64.5% |
| Fish | Protopterus annectens | West African Lungfish | Lepidosireniformes | 408 | XP_043937251.1 | 393 | 46.4% | 57.0% |
| Latimeria chalumnae | West Indian Ocean Coelacanth | Coelacanthiformes | 415 | XP_014348608.1 | 381 | 58.2% | 69.7% | |
| Danio rerio | Zebrafish | Cypriniformes | 429 | NP_001038706.1 | 392 | 48.6% | 59.5% | |
| Leucoraja erinacea | Little Skate | Rajiformes | 462 | XP_055519598.1 | 395 | 53.0% | 64.2% | |
| Petromyzon marinus | Sea Lamprey | Petromyzontiformes | 563 | XP_032803651.1 | 452 | 41.6% | 52.4% | |
| Arthropods | Rhipicephalus sanguineus | Brown Dog Tick | Ixodida | 686 | XP_037499932.1 | 428 | 29.3% | 39.9% |
| Biomphalaria glabrata | Bloodfluke Planorb | Planorbidae | 686 | XP_055879100.1 | 370 | 26.6% | 36.0% | |
| Polistes fuscatus | Northern Paper Wasp | Hymenoptera | 686 | XP_043494673.1 | 409 | 24.1% | 39.3% | |
| Plants | Gossypium anomalum | Wild Cotton | Malvales | 1530 | KAG8495680.1 | 266 | 11.5% | 20.6% |
Clinical Significance
[edit]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.[4]
References
[edit]- ^ Jump up to: a b "Supplemental Information 2: Nucleotide sequence alignments of TiLV segment 9 sequences (n = 25) retrieved from the GenBank database at NCBI". doi:10.7717/peerj.13157/supp-2.
{{cite web}}: Missing or empty|url=(help) - ^ "AceView: Gene:C19orf47, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2023-12-16.
- ^ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2023-12-16.
- ^ Bally, Julien F.; Camargos, Sarah; Oliveira dos Santos, Camila; Kern, Drew S.; Lee, Teresa; Pereira da Silva-Junior, Francisco; Puga, Renato David; Cardoso, Francisco; Barbosa, Egberto Reis; Yadav, Rachita; Ozelius, Laurie J.; de Carvalho Aguiar, Patricia; Lang, Anthony E. (2021-04-06). "DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations". Neurology. 96 (14): e1887–e1897. doi:10.1212/WNL.0000000000010882. ISSN 0028-3878. PMC 8105968. PMID 32943487.