| C5orf47 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C5orf47 , chromosome 5 open reading frame 47 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1914842 HomoloGene: 12161 GeneCards: C5orf47 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. [5] It also goes by the alias LOC133491. [6] The human C5ORF47 gene is primarily expressed in the testis. [5]
C5ORF47 is located at 5q35.2. [5] The full gene spans 16,911 nucleotides, and the mRNA transcript, made up of 5 exons, spans 2511 nucleotides. [7]
Human C5ORF47 is primarily expressed in the testis, as well as expressed in low levels in many tissues - stomach, lung, kidney, intestine, heart, and adrenal - in varying levels and times throughout fetal development. [5]
The mRNA sequence of C5ORF47 is 2511 nucleotides long and consists of 5 exons and 6 introns [8]
The human C5ORF47 gene has two known isoforms, the first (XP_016864517.1) [9] encodes a protein that is 176 amino acids in length, and the second (XP_011532733.1) [10] encodes a protein that is 150 amino acids in length. This article will primarily focus on the first, more common isoform.
The molecular weight of the unmodified precursor human C5ORF47 protein is 19.2 kDal, and the isoelectric point is predicted to be 10.49. [11]
The protein is basic and appears to have a relatively high concentration of positively charged amino acids, lysine and arginine, in comparison to negatively charged amino acids, aspartic acid and glutamic acid. The repetitive amino acid structure, “SQLR”, can be found in two locations in the protein. [12]
The human C5ORF47 protein contains DUF4680, a Domain of Unknown Function, that is characterized by two conserved amino acid sequence motifs: VISRM and ENE. [13]
Within the predicted tertiary structure of C5ORF47, the most conserved amino acids fall within the Domain of Unknown Function: DUF4680.
The human C5ORF47 protein is predicted to be localized in the nucleus. [15] [16]
A stretch of five positively charged lysines, indicating a nuclear localization sequence, can be found at positions 133-137 of the amino acid sequence. [15]
Immunohistochemical staining of human testis from Sigma Aldrich shows moderate nuclear positivity in cells in seminiferous ducts of the testes. [17]
Predicted phosphorylation sites T19, S23, S96, S129, S149, Y158, S168, S169, and O-linked glycosylation sites S96, S105, and S168 are conserved among most mammalian orthologs. [18] [19]
Orthologs of the human C5ORF47 gene can be found in mammals, birds, and reptiles, but not in amphibians, fish, or invertebrates. No paralogs of the human C5ORF47 gene are known. [22] [23] [24]
| Taxonomic Order | Genus and Species | Common Name | Median Date of Divergence (MYA) | Sequence Length | Sequence Identity to Human Protein (%) | Sequence Similarity to Human Protein (%) | |
|---|---|---|---|---|---|---|---|
| Mammalia | Primates | Homo sapiens | Human | 0 | 176 | 100 | 100 |
| Primates | Gorilla gorilla | Gorilla | 8.6 | 176 | 97.7 | 98 | |
| Rodentia | Mus musculus | House Mouse | 87 | 165 | 50 | 63.1 | |
| Chiroptera | Pteropus giganteus | Indian flying fox | 94 | 176 | 58 | 64.9 | |
| Carnivora | Neomonachus schauinslandi | Hawaiian monk seal | 94 | 178 | 56.7 | 63.9 | |
| Aves | Passeriforme | Onychostruthus taczanowskii | White-rumped snowfinch | 319 | 173 | 33.2 | 42.8 |
| Casuariiforme | Dromaius novaehollandiae | Emu | 319 | 182 | 32 | 44.5 | |
| Passeriformes | Taeniopygia guttata | Zebra Finch | 319 | 177 | 30.8 | 39.3 | |
| Apterygiforme | Apteryx rowi | Okarito Kiwi | 319 | 180 | 30.5 | 41 | |
| Caprimulgiformes | Antrostomus carolinensis | Chuck-will's-widow | 319 | 229 | 26.8 | 37 | |
| Apodiformes | Calypte anna | Anna's humming bird | 319 | 228 | 24 | 35.6 | |
| Galliformes | Phasianus colchicus | Ring-necked Pheasant | 319 | 263 | 20.5 | 30.9 | |
| Reptilia | Squamata | Zootoca vivipara | Viparous Lizard | 319 | 205 | 30 | 42.3 |
| Squamata | Podarcis muralis | Common wall lizard | 319 | 243 | 28.9 | 39.9 | |
| Testudines | Dermochelys coriacea | Leatherback sea turtle | 319 | 242 | 27.6 | 41.3 | |
| Testudines | Gopherus flavomarginatus | Bolson Tortoise | 319 | 235 | 26.6 | 38.1 | |
| Testudines | Chelonoidis abingdonii | Pinta Island tortoise | 319 | 234 | 26.6 | 35.5 | |
| Squamata | Sceloporus undulatus | Eastern fence lizard | 319 | 241 | 24.7 | 34.9 | |
| Crocodilia | Alligator mississippiensis | American Alligator | 319 | 307 | 22.8 | 32.2 |
Proteins that are predicted to interact with the human C5ORF47 protein tend have characteristics such as testes-specific, pertaining to sperm or spermatogenesis, or related to cilia/flagella formation. [25] [26]
| Interacting Protein | Full Name | Cellular Compartment | Function |
|---|---|---|---|
| CCDC185 | Coiled-coil domain-containing protein 185 | Cellular localization unknown | Has a role in ciliogenesis (by similarity). Required for proper cephalic and left/right axis development [27] |
| C10orf120 | Uncharacterized protein C10orf120 | Cellular localization unknown | Diseases associated with C10orf120 include Vas Deferens, Congenital Bilateral Aplasia which occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. [28] [29] |
| C4orf22 | Uncharacterized protein C4orf22 | Predicted to be located in cytoplasm. [30] | Cilia and flagella associated protein. [30] |
| TGIF2LX | Tgfb induced factor homeobox 2 like, x-linked; Homeobox protein TGIF2LX | Predicted to be located in the nucleus [31] | May have a transcription role in testis. Testis-specific expression suggests that this gene may play a role in spermatogenesis. [31] |
| ZPLD1 | Zona pellucida-like domain-containing protein 1 |
| Glycoprotein which is a component of the gelatinous extracellular matrix in the cupulae of the vestibular organ [32] |
| SPERT | Spermatid-associated protein | Predicted to be located in cytoplasmic vesicle. [33] | Enables identical protein binding activity. [33] |
| ZNF606 | Zinc finger protein 606 | Predicted to be located in the nucleus [34] | Nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways. Reduced expression of this gene promotes chondrocyte differentiation [34] |
| C3orf20 | Uncharacterized protein C3orf20 | Predicted to be located in cytoplasm. [35] | Unknown function |
| C14orf119 | Uncharacterized protein C14orf119 | Located in cytosol and mitochondria. [36] | Unknown function |
In a study conducted to identify rare genetic variants contributing to Neuromyelitis optica in Finland, Four missense variants were shared by two patients in C3ORF20, PDZD2, C5ORF47 and ZNF606. [37]
Microarray data shows that human C5ORF47 expression is low in an individual with teratozoospermia, which is characterized by the presence of spermatozoa with abnormal morphology over 85% in sperm. [38] [39]
Microarray data shows that human C5ORF47 expression is lower in p63 depleted cells. [40] The p63 protein functions as a transcription factor that helps regulate numerous cell activities, including cell proliferation, cell maintenance, differentiation, cell adhesion, and apoptosis. The p63 protein also plays a critical role in the formation of ectodermal structures in early development. Studies suggest that it also plays essential roles in the development of the limbs, facial features, urinary system, and other organs and tissues. [41]
Family with sequence similarity 63, member A is a protein that, in humans, is encoded by the FAM63A gene. It is located on the minus strand of chromosome 1 at locus 1q21.3.
TMEM156 is a gene that encodes the transmembrane protein 156 (TMEM156) in Homo sapiens. It has the clone name of FLJ23235.
Cardiac-enriched FHL2-interacting protein (CEFIP) is a protein encoded by the gene C10orf71 on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.
CRACD-like protein. previously known as KIAA1211L is a protein that in humans is encoded by the CRACDL gene. It is highly expressed in the cerebral cortex of the brain. Furthermore, it is localized to the microtubules and the centrosomes and is subcellularly located in the nucleus. Finally, CRACDL is associated with certain mental disorders and various cancers.
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.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Transmembrane protein 44 is a protein that in humans is encoded by the TMEM44 gene.
c7orf26 is a gene in humans that encodes a protein known as c7orf26. Based on properties of c7orf26 and its conservation over a long period of time, its suggested function is targeted for the cytoplasm and it is predicted to play a role in regulating transcription.
Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.
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.
C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.
FAM120AOS, or family with sequence similarity 120A opposite strand, codes for uncharacterized protein FAM120AOS, which currently has no known function. The gene ontology describes the gene to be protein binding. Overall, it appears that the thyroid and the placenta are the two tissues with the highest expression levels of FAM120AOS across a majority of datasets.
THAP domain-containing protein 3 (THAP3) is a protein that, in Homo sapiens (humans), is encoded by the THAP3 gene. The THAP3 protein is as known as MGC33488, LOC90326, and THAP domain-containing, apoptosis associated protein 3. This protein contains the Thanatos-associated protein (THAP) domain and a host-cell factor 1C binding motif. These domains allow THAP3 to influence a variety of processes, including transcription and neuronal development. THAP3 is ubiquitously expressed in H. sapiens, though expression is highest in the kidneys.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.
