| OCEL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | OCEL1 , FWP009, S863-9, occludin/ELL domain containing 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1924340 HomoloGene: 11597 GeneCards: OCEL1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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OCEL1, also called Occludin//ELL Domain Containing 1, is a protein encoding gene located at chromosome 19p13.11 in the human genome. [5] Other aliases for the gene include FLJ22709, FWP009, and S863-9. The function of OCEL1 has not yet been identified.
Though the gene’s function is currently unknown, it is part of a family of genes that are related to occludin, which is an enzyme localized at tight junctions of epithelial and endothelial cells, and are also related to eleven-nineteen lysine-rich leukemia (ELL), which is an elongation factor that can increase the rate of RNA polymerase II transcription. [6] [7] There are five paralogs of OCEL1 in this gene family: ELL, ELL2, ELL3, MARVELD2, and OCLN. [8] OCEL1 and each of its five paralogs all contain the Occludin/ELL Domain (pfam07303), suggesting their functions may be related to protein interactions. [6] [7]
The protein encoded by OCEL1 is called Occludin/ELL Domain Containing Protein 1. [9] The protein is 264 amino acids in length. It is made up of 6 distinct exons and contains the ELL/Occludin Domain. OCEL1 has 15 different splice variations. The molecular weight of OCEL1 is approximately 28-29 kDa. [10] [11] The predicted isoelectric point for the protein is 10. [11] There are 3 isoforms for the OCEL1 protein: isoform X1, isoform X2, and isoform X3. [9] Only isoforms X1 and X2 contain the ELL/Occludin Domain. The OCEL1 protein contains a proline-rich domain spanning from amino acid 28-106; the protein has two standard deviations more of proline than average. [12] [13]
The secondary structure of OCEL1 is predicted to contain several alpha helices but no beta pleated sheets. [14] [15] There are no predicted sulfide bridges or transmembrane domains in the protein. [16] [17] The tertiary structure as predicted by iTASSER shows multiple alpha helices coiling with each other.
The OCEL1 protein is localized in the Golgi apparatus, but can also be found at low levels in the nucleus. [18]
OCEL1 is expressed at detectable levels in all human tissues with low tissue specificity. [18] Expression in the kidney is low relative to other tissues during human fetal development, but is relatively higher in adults. [19] [20]
Expression of OCEL1 may be regulated by several miRNA binding sites predicted to be in the 3' UTR of the gene: [21]
In addition to its five paralogs in the human genome, the OCEL1 gene has 234 known orthologs in other species. [9] [8] Its orthologs are found in jawed vertebrates, including birds, alligators, turtles, lizards, mammals, amphibians, coelacanths, bony fish, and cartilaginous fish. Some orthologs contain both the ELL/Occludin Domain and the MARVELD2 Domain, suggesting the OCEL1 protein and MARVELD2 protein are closely related. [18]
The OCEL1 protein has been found to interact with two proteins via protein kinase assays; SRPK1, known as SRSF protein kinase I, and SRPK2, known as SRSF protein kinase II, which are both localized to the nucleus of the cell. [28] SRSF protein kinase I and II both primarily function to phosphorylate proteins at serine residues and also phosphorylates serine residue splicing factors. [29] [30]
The OCEL1 gene may be related to some cancers. Low expression of OCEL1 is associated with poor prognosis in patients with human non-small cell lung cancer. [31] OCEL1, when grouped with three other genes, is thought to be an effective predictor for the paclitaxel response in humans with HER2-negative breast cancer. [32]
The related to receptor tyrosine kinase (RYK) gene encodes the protein Ryk.
Disintegrin and metalloproteinase domain-containing protein 15 is an enzyme that in humans is encoded by the ADAM15 gene.
PITSLRE serine/threonine-protein kinase CDC2L2 is an enzyme that in humans is encoded by the CDC2L2 gene.
PITSLRE serine/threonine-protein kinase CDC2L1 is an enzyme that in humans is encoded by the CDC2L1 gene.
Serine/threonine-protein kinase MARK2 is an enzyme that in humans is encoded by the MARK2 gene.
Plasma membrane calcium-transporting ATPase 2 is an enzyme that in humans is encoded by the ATP2B2 gene.
MAP kinase-activating death domain protein is an enzyme that in humans is encoded by the MADD gene.
Annexin A7 is a protein that in humans is encoded by the ANXA7 gene.
YTH domain-containing protein 1 is a protein that in humans is encoded by the YTHDC1 gene. YTHDC1 is a nuclear protein involved in splice site selection that localises to YT bodies; dynamic subnuclear compartments, which first appear at the beginning of S-phase in the cell cycle and disperse during mitosis.
Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a protein that in humans is encoded by the CCDC113 gene. The human CCDC113 gene is located on chromosome 16q21 and encodes 5,304 base pairs of mRNA and 377 amino acids.
UPF0687 protein C20orf27 is a protein that in humans is encoded by the C20orf27 gene. It is expressed in the majority of the human tissues. One study on this protein revealed its role in regulating cell cycle, apoptosis, and tumorigenesis via promoting the activation of NFĸB pathway.
The family with sequence similarity 43 member A (FAM43A) gene, also known as; GCO3P195887, GC03P194406, GC03P191784, and NM_153690.3, codes for a 423 bp protein that is conserved in primates, and orthologs have been found in vertebrate and invertebrate species. Three transcripts have been identified, two protein coding isoforms, and a non-coding transcript (cAug10). Molecular weight of 45.8 kdal in the unphosphorylated state and isoelectric point of 6.1.
WD Repeat and Coiled-coiled containing protein (WDCP) is a protein which in humans is encoded by the WDCP gene. The function of the protein is not completely understood, but WDCP has been identified in a fusion protein with anaplastic lymphoma kinase found in colorectal cancer. WDCP has also been identified in the MRN complex, which processes double-stranded breaks in DNA.
SH3 Domain Binding Kinase Family Member 3 is an enzyme that in humans is encoded by the SBK3 gene. SBK3 is a member of the serine/threonine protein kinase family. The SBK3 protein is known to exhibit transferase activity, especially phosphotransferase activity, and tyrosine kinase activity. It is well-conserved throughout mammalian organisms and has two paralogs: SBK1 and SBK2.
Coiled-coil domain containing 121 (CCDC121) is a protein encoded by the CCDC121 gene in humans. CCDC121 is located on the minus strand of chromosome 2 and encodes three protein isoforms. All isoforms of CCDC121 contain a domain of unknown function referred to as DUF4515 or pfam14988.
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.
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).
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.
Transmembrane protein 248, also known as C7orf42, is a gene that in humans encodes the TMEM248 protein. This gene contains multiple transmembrane domains and is composed of seven exons.TMEM248 is predicted to be a component of the plasma membrane and be involved in vesicular trafficking. It has low tissue specificity, meaning it is ubiquitously expressed in tissues throughout the human body. Orthology analyses determined that TMEM248 is highly conserved, having homology with vertebrates and invertebrates. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.
