| CFAP299 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CFAP299 , chromosome 4 open reading frame 22, C4orf22, cilia and flagella associated protein 299 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1916571 HomoloGene: 51893 GeneCards: CFAP299 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis. [5]
CFAP299 gene is located at chromosome 4, 4q21.21 spanning 642,492 bases from position 80,321,265 to position 80,963,756 on the plus strand. CFAP299 gene is also known as C4orf22, chromosome 4 Open Reading Frame 22 and Uncharacterized Protein C4orf22. [6] CFAP299 gene is located near MRPS25P1 and BMP3 and it has 13 exons. [7]
CFAP299 is widely expressed in a variety of normal tissue in Homo sapiens . CFAP299 is highly expressed in testis, trachea, lung, fetal lung and epididymis. [8] In terms of health state, CFAP299 has a decreased expression level in glioma, germ cell tumors and chondrosarcoma. An even higher expression of CFAP299 is shown in condition of soft tissue tumor and muscle tissue tumor. CFAP299 is only exist in fetus and adult. [9]
The promoter of CFAP299 gene is predicted to present 1000 base pairs upstream of the start of transcription. A variety of transcription factors such as CCAAT binding factors, X-box binding factors and AT rich interactive domain factor bind to promoter to regulate the sequence. [10]
CFAP299 has 9 alternatively spliced variants and 1 unspliced form. [11]
CFAP299 protein contains 233 amino acids in length. The molecular weight of Homo sapiens CFAP299 protein is 26869 Da and the predicted isoelectric point is 5.28. Total number of negatively charged residues is 39 and total number of positively charged residues is 33. [12] Aspartic acid has a higher frequency in CFAP299 protein than in other human proteins. [13]
CFAP299 protein has two important isoforms. Cilia- and flagella-associated protein 299 isoform 1 is the longest isoform [7] and cilia- and flagella-associated protein 299 isoform 2 is chosen as canonical sequence, [14] which is also the target for this article.
There is only one conserved domain DUF4464 from position 13 to position 232 in CFAP299 protein. [7] This domain belongs to DUF4464 family, which is found in eukaryotes and the proteins in this family has a length of 224 to 241 amino acids. [15] This domain is conserved through the orthologs of CFAP299 as indicated by BLAST. [16]
CFAP299 proteins secondary structure is dominated by alpha helix and random coil as predicted by GOR4. [17]
Tertiary structure of CFAP299 protein predicted by I-TASSER showed that the protein is comprised by alpha helix and coils. [18]
CFAP299 is predicted to undergo phosphorylation in various site as shown in graph. [19] CFAP299 also predicted to have sumoylation site in position 58, 137 and 232 and two SUMO-interaction Motifs in position 45-49 and 212-216. [20]
CFAP299 protein is believed to interact with amyloid beta (A4) precursor protein (APP) [22] and BCL2-associated athanogene 3 (BCL2). [23]
CFAP299 protein orthologs exists in mammals, reptiles, birds, amphibians, fish, sponges, sea urchins, insects, fungi and plants. Its most distant relative appear in plants. The table below shows orthologs found by BLAST. [16]
| Genus and species | Common name | Taxonomic Group | Date of divergence | accession number | sequence length | sequence identity | sequence similarity |
| Homo Sapiens | Human | Mammalia | 0 | NP_689983.2 | 233 | 100% | 100% |
| Ochotona princeps | American pika | Lagomorpha | 88 | XP_004590671.1 | 233 | 85% | 93% |
| Mus musculus | House mouse | Rodentia | 88 | NP_001019785 | 233 | 85% | 91% |
| Eumetopias jubatus | Steller sea lion | Carnivora | 94 | XP_027980031 | 233 | 86% | 93% |
| Erinaceus europaeus | European hedgehog | Soricomorpha | 94 | XP_007518562 | 233 | 83% | 93% |
| Ornithorhynchus anatinus | platypus | Monotremata | 169 | XP_007659769 | 164 | 74% | 88% |
| Pogona vitticeps | Central bearded dragon | Reptilia | 320 | XP_020658829 | 236 | 72% | 85% |
| Anolis carolinensis | Green anole | Reptilia | 320 | XP_008118093 | 193 | 71% | 85% |
| Dromaius novaehollandiae | Emu | Aves | 320 | XP_025959155 | 226 | 64% | 81% |
| Anas platyrhynchos | Mallard | Aves | 320 | XP_027312784.1 | 243 | 58% | 75% |
| Xenopus laevis | African clawed frog | Amphibia | 353 | NP_001088722 | 233 | 73% | 89% |
| Nanorana parkeri | Xizang Plateau frog | Amphibia | 353 | XP_018414504.1 | 233 | 73% | 88% |
| Danio rerio | Zebrafish | Actinopterygii | 432 | NP_001108596 | 239 | 60% | 77% |
| Callorhinchus milii | Australian ghostshark | Chondrichthyes | 465 | XP_007895157 | 235 | 68% | 82% |
| Strongylocentrotus purpuratus | Pacific purple sea urchin | Echinoidea | 627 | XP_011663002 | 236 | 66% | 80% |
| Nematostella vectensis | Starlet sea anemone | Anthozoa | 685 | XP_001619741.1 | 199 | 61% | 70% |
| Drosophila melanogaster | Fruit fly | Insecta | 794 | NP_650260.1 | 233 | 31% | 46% |
| Amphimedon queenslandica | Sponge | Demospongiae | 951.8 | XP_003382446 | 235 | 64% | 80% |
| Batrachochytrium dendrobatidis | Chytridiomycetes | Amphibian chytrid fungus | 1150 | XP_006681372 | 238 | 61% | 78% |
| Physcomitrella patens | Spreading earthmoss | Bryopsida | 1624 | XP_024379106 | 255 | 50% | 65% |
CFAP299 expression is lowered in people with teratozoospermia, a condition that causes abnormal morphology of sperm and decreased fertility. [24]
In airway epithelial cells that had excessive mucous secretion, a condition that simulated chronic lung disease, CFAP299 showed a reduced expression. [25]
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
METTL26, previously designated C16orf13, is a protein-coding gene for Methyltransferase Like 26, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
TMEM156 is a gene that encodes the transmembrane protein 156 (TMEM156) in Homo sapiens. It has the clone name of FLJ23235.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
Glutamate rich protein 5 is a protein in humans encoded by the ERICH5 gene, also known as chromosome 8 open reading frame 47 (C8orf47).
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.
Proline-rich protein 16 (PRR16) is a protein coding gene in Homo sapiens. The protein is known by the alias Largen.
C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.
ProteinFAM89A is a protein which in humans is encoded by the FAM89A gene. It is also known as chromosome 1 open reading frame 153 (C1orf153). Highest FAM89A gene expression is observed in the placenta and adipose tissue. Though its function is largely unknown, FAM89A is found to be differentially expressed in response to interleukin exposure, and it is implicated in immune responses pathways and various pathologies such as atherosclerosis and glioma cell expression.
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.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
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.
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.
