| C4orf19 | |||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||
| Aliases | C4orf19 , chromosome 4 open reading frame 19 | ||||||||||||||||||||||||
| External IDs | MGI: 1923511 HomoloGene: 49537 GeneCards: C4orf19 | ||||||||||||||||||||||||
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| Orthologs | |||||||||||||||||||||||||
| Species | Human | Mouse | |||||||||||||||||||||||
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| RefSeq (mRNA) | |||||||||||||||||||||||||
| RefSeq (protein) | |||||||||||||||||||||||||
| Location (UCSC) | Chr 4: 37.45 – 37.62 Mb | Chr 5: 63.97 – 64.06 Mb | |||||||||||||||||||||||
| PubMed search | [3] | [4] | |||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||
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C4orf19 (Chromosome 4 open reading frame 19) is a protein which in humans is encoded by the C4orf19 gene. [5]
The C4orf19 gene is located at 4p14 on the plus strand of chromosome 4 and spans 170.04 kb and contains 7 exons. [5] [6] The genetic neighborhood of C4orf19 includes LOC101928721, LOC105374402, MIR4801, and NWD2, all located upstream of C4orf19. RELL1 is located downstream of C4orf19. [7]
There are four known transcript variants that encode isoforms known as transcript variant 1, transcript variant 2, X1, and X2. [10] [11]
C4orf19 encodes a protein with 314 amino acids and a molecular weight of 33.7 kDa. [6] [12] The theoretical isoelectric point of C4orf19 is 4.4. [6]
In humans, the C4orf19 protein contains one domain of unknown function, DUF4699. [13] In eukaryotes the DUF4699 family of proteins are typically between 303 and 319 amino acids in length. [14] DUF4699 spans from amino acid 9 to amino acid 314 in C4orf19. [15] Amongst orthologous proteins, the N-terminus and C-terminus of C4orf19 are most highly conserved. [16]
Alpha helices are predicted near the N-terminus and C-terminus of C4orf19 in areas that are conserved amongst orthologous proteins. [8] [17] [18] [19]
C4orf19 is predicted to undergo several post-translation modifications, including phosphorylation, glycosylation, and SUMOylation. [20] [21] [22] [23]
C4orf19 is predicted to be to be localized in cellular junctions. [13] [24]
C4orf19 is highly expressed in tissues of the salivary gland, duodenum, small intestine, colon, rectum and kidney. [25] The protein also shows medium levels of expression in tissues of the stomach. [25]
Studies using yeast two-hybrid screening have experimentally determined interactions between C4orf19 and PDCD10. [26] [27]
There are currently no known paralogs or paralogous domains for C4orf19. [28]
Orthologs of C4orf19 have been found in mammals, birds, and reptiles. [28] Within class Mammalia, orthologs have been identified in orders Primates, Rodentia, Artiodactyla, Chirpotera, Carnivora, Cingulata, and Diprotodontia. The Burmese python (Python bivittatus) and Eastern fence lizard (Sceloporus undulatus) contain the most distantly related orthologs of C4orf19. Both species diverged from humans an estimated 312 million years ago. C4orf19 orthologs have not yet been identified in bacteria, archaea, protists, plants, fungi, trichoplax, invertebrates, or bony and cartilaginous fish. The following table represents a selection of orthologs found using searches in BLAST. [29]
| C4orf19 | Genus, species | Common Name | Taxonomic Group | Estimated Divergence Date (MYA) | Accession Number | Sequence Length (aa) | Sequence Identity (%) | Sequence Similarity (%) |
| Mammalia | Homo sapiens | Humans | Primates | 0 | NP_060772.2 | 314 | 100 | 100 |
| Mus musculis | House mouse | Rodentia | 90 | XP_011239094.1 | 313 | 56.2 | 65.7 | |
| Meriones unguiculatus | Mongolian gerbil | Rodentia | 90 | XP_021503387.1 | 311 | 50.6 | 60.5 | |
| Bos taurus | Cattle | Artiodactyla | 96 | NP_001098443.1 | 321 | 59.2 | 67.3 | |
| Myotis brandtii | Brandt's bat | Chiroptera | 96 | XP_005859800.1 | 320 | 61.2 | 69.6 | |
| Ailuropoda melanoleuca | Giant panda | Carnivora | 96 | XP_019662032.2 | 319 | 59.9 | 68.7 | |
| Odobenus rosmarus divergens | Pacific walrus | Carnivora | 96 | XP_004396233.1 | 319 | 59.2 | 69 | |
| Felis catus | Domestic cat | Carnivora | 96 | XP_023108981.1 | 319 | 57.7 | 66.8 | |
| Puma concolor | Puma | Carnivora | 96 | XP_025778193.1 | 319 | 56.1 | 65.2 | |
| Dasypus novemcinctus | 9 banded armadillo | Cingulata | 105 | XP_012386176.1 | 316 | 62.8 | 71.9 | |
| Phascolarctos cinereus | Koala | Diprotodontia | 159 | XP_020847725.1 | 309 | 42.6 | 53.8 | |
| Aves | Phasianus colchius | Ring-necked pheasant | Galliformes | 312 | XP_031444602.1 | 329 | 30.7 | 44.9 |
| Anas platyrhynchos | Mallard duck | Anseriforms | 312 | XP_027313057.1 | 327 | 32.4 | 45.9 | |
| Falco peregrinus | Peregrine falcon | Falconiformes | 312 | XP_005243272.1 | 323 | 28.4 | 46.1 | |
| Tyto alba | Barn owl | Striniformes | 312 | XP_032855182.2 | 327 | 31.5 | 44.5 | |
| Dromaius novaehollandiae | Emu | Casuariiformes | 328 | XP_025949540.1 | 328 | 33 | 47.7 | |
| Reptilia | Chrysemys picta bellii | Painted turtle | Testudines | 312 | XP_023962455.1 | 343 | 31.5 | 46.6 |
| Chelonia mydas | Green sea turtle | Testudines | 312 | XP_007059772.2 | 344 | 33.4 | 49.4 | |
| Alligator mississippiensis | American alligator | Crocodilia | 312 | XP_019336018.1 | 340 | 31.7 | 46.7 | |
| Python bivittatus | Burmese python | Squamata | 312 | XP_015743375.1 | 319 | 28.2 | 42.2 | |
| Sceloporus undulatus | Eastern fence lizard | Squamata | 312 | XP_042324918.1 | 310 | 29.8 | 42.6 |
C11orf49 is a protein coding gene that in humans encodes for the C11orf49 protein. It is heavily expressed in brain tissue and peripheral blood mononuclear cells, with the latter being an important component of the immune system. It is predicted that the C11orf49 protein acts as a kinase, and has been shown to interact with HTT and APOE2.
C5orf34 is a protein that in humans is encoded by the C5orf34 gene (5p12).
PRR29 is a protein located on human chromosome 17 that in humans is encoded by the PRR29 gene.
C12orf66 is a protein that in humans is encoded by the C12orf66 gene. The C12orf66 protein is one of four proteins in the KICSTOR protein complex which negatively regulates mechanistic target of rapamycin complex 1 (mTORC1) signaling.
UPF0575 protein C19orf67 is a protein which in humans is encoded by the C19orf67 gene. Orthologs of C19orf67 are found in many mammals, some reptiles, and most jawed fish. The protein is expressed at low levels throughout the body with the exception of the testis and breast tissue. Where it is expressed, the protein is predicted to be localized in the nucleus to carry out a function. The highly conserved and slowly evolving DUFF3314 region is predicted to form numerous alpha helices and may be vital to the function of the protein.
Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.
C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.
Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
Chromosome 9 open reading frame 50 is a protein that in humans is encoded by the C9orf50 gene. C9orf50 has one other known alias, FLJ35803. In humans the gene coding sequence is 10,051 base pairs long, transcribing an mRNA of 1,624 bases that encodes a 431 amino acid protein.
The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.
Family with Sequence Similarity 166, member C (FAM166C), is a protein encoded by the FAM166C gene. The protein FAM166C is localized in the nucleus. It has a calculated molecular weight of 23.29 kDa. It also contains DUF2475, a protein of unknown function from amino acid 19-85. The FAM166C protein is nominally expressed in the testis, stomach, and thyroid.
Chromosome 5 open reading frame forty-nine, also known as C5orf49, is a protein that in humans is encoded by the C5orf49 gene. Aliases for C5orf49 include Chromosome 5 Open Reading Frame 49, Uncharacterized Protein C5orf49 and LOC134121. C5orf49 is predicted to localize to the cilia and have ciliary functions.
C11orf98 is a protein-encoding gene on chromosome 11 in humans of unknown function. It is otherwise known as c11orf48. The gene spans the chromosomal locus from 62,662,817-62,665,210. There are 4 exons. It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long.
C12orf29 is a protein that in humans is encoded by chromosome 12 open reading frame 29. The gene is ubiquitously expressed in various tissues. The protein has 325 amino acids. The biological process of C12orf29 has been annotated as hematopoietic progenitor cell differentiation. The molecular and cellular functions of C12orf29 gene have not yet well understood by the scientific community.
Chromosome 3 open reading frame 38 (C3orf38) is a protein which in humans is encoded by the C3orf38 gene.
Chromosome 5 open reading frame 22 (c5orf22) is a protein-coding gene of poorly characterized function in Homo sapiens. The primary alias is unknown protein family 0489 (UPF0489).
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