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| Aliases | TMEM269 , transmembrane protein 269 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1922430 HomoloGene: 28290 GeneCards: TMEM269 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane Protein 269 (TMEM269) is a protein which in humans is encoded by the TMEM269 gene.
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TMEM269 , transmembrane protein 269 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1922430 HomoloGene: 28290 GeneCards: TMEM269 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Transmembrane Protein 269 (TMEM269) is a protein which in humans is encoded by the TMEM269 gene.
The gene is located on the plus strand with a cytogenetic location of 1p34.2 and has the accession number A0A1B0GVZ9.1. The gene has a span of approximately 160,000 base pairs. [5] It has a divergent transcript expressed on the negative strand in the opposite direction of TMEM269. [6]
A study of RNA-seq data according to tissue type in humans found the expression of TMEM269 to be highest in the testes, brain, endometrium, and kidney. [7] The data indicates that TMEM269 is transcribed ubiquitously across tissue types at a fairly low rate with no tissue type with more than 0.4 reads per kilobase of transcript per million reads mapped. A separate study of RNA-seq data across tissue types indicated the highest expression for TMEM269 in the brain, the adrenal gland, and the testes [8]
A study of diabetic kidney disease (DKD) in mouse models determined that miRNA-181b-5b, an miRNA that is dramatically down-regulated in DKD mice, dramatically decreased the expression of TMEM269 (-4.52 fold difference or 22.12% total original expression, p-value <0.01). [9] A subsection of Table IIIa from the original study is included below with the values relevant to TMEM269. TMEM269 is one among 27 genes that had notably (4-fold difference) reduced expression of the genes tested; it ranked 18th for strongest effect among these genes.
TMEM269 was experimentally determined to be down-regulated by low phospholipid microdiets (Low-PL) in pelagic sole larvae when compared to high phospholipid microdiets (High-PL). TMEM269 was one among 15 identified differentially expressed transcripts according to Low-PL dietary exposure (among the group of 12 that were down-regulated). [10]
TMEM269 has two isoforms, with the more common variant being 245 amino acids in length. It has 5 transmembrane domains throughout the length of the protein and one large region similarity to the sequence of phosphatidylserine synthase. The two isoforms of TMEM269 have identical sequences apart from the second, less common, isoform having a deletion of the first 42 amino acids that are found in the first isoform's sequence.
Relative to other human proteins, TMEM269 is rich in methionine, serine, phenylalanine, and leucine, while it has a low percentage of glutamic acid, glutamine, and arginine. [11] The predicted molecular weight of TMEM269 is 26.9 kDa and the predicted isoelectric point is 6.7. [12]
There are four predicted sites of N-myristolyation (at amino acid positions 89–94, 102–107, 113–118, 137–142) for TMEM269. [13] N-Myristoylation may be involved in signal transduction, protein stability, and trafficking proteins to the membrane. [14] These N-myristolyation sites are predicted in various model organisms in addition to humans including mice, chickens, and zebrafish.
There are two predicted sites of O-linked glycosylation on the TMEM269 protein; this type of modification may regulate protein conformation, stability, and multimeric protein assembly. [15] These predictions are based on sites surpassing a 0.5 NetPhos threshold on a YinOYang post translational modification prediction algorithm [16] These sites are located at amino acid positions 35 and 125 on the protein.
Subcellular localization predictions indicate TMEM269 has the strongest likelihood of being located in the endoplasmic reticulum and the plasma membrane. [17] The Reinhardt's method for Cytplasmic/Nuclear discrimination predicts the human TMEM269 protein to be cytoplasmic with a reliability score of 94.1 [18]
One study determined TMEM269 to be a candidate for non-promiscuous interaction with the protein Fam183b via yeast two-hybrid screening. [19] Fam183b has been characterized as essential for motile cilia in Xenopus but Fam183b loss-of-function studies have yielded no defects (in cilia or otherwise) in experiments using mice. TMEM269 was one of two proteins that were identified as having potential interaction with this protein.
TMEM269 is conserved in all jawed vertebrates but does not have orthologs in Cyclostomi, invertebrates, or non-animal life forms. Chondrichthyes or cartilaginous fish are the group of organisms that are most distantly related to humans that still have a TMEM269 ortholog. The approximate evolutionary date of divergence from Homo sapiens for most cartilaginous fish is estimated to be 464 million years ago. Based on information from sequences of the orthologs, [20] the human version of the protein shares an amino acid identity of around 50-60% with its most distant orthologs in fish and from 70 to 98% for closer orthologs in mammals (higher percentages for more closely related groups such as primates). TMEM269 does not have any clearly identifiable paralogs.
One measure of understanding the rate of evolution is determining how fast the sequence is diverging in comparison to other proteins. TMEM269 is diverging across orthologs at a moderate rate when compared to the quickly-diverging protein Fibrinogen Alpha Chain and the slowly-diverging protein Cytochrome C.
MORN1 containing repeat 1, also known as Morn1, is a protein that in humans is encoded by the MORN1 gene.
Family with sequence similarity 167, member A is a protein in humans that is encoded by the FAM167A gene located on chromosome 8. FAM167A and its paralogs are protein encoding genes containing the conserved domain DUF3259, a protein of unknown function. FAM167A has many orthologs in which the domain of unknown function is highly conserved.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
Transmembrane Protein 217 is a protein encoded by the gene TMEM217. TMEM217 has been found to have expression correlated with the lymphatic system and endothelial tissues and has been predicted to have a function linked to the cytoskeleton.
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.
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.
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.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
C14orf119 is a protein that in humans is encoded by the c14orf119 gene. The c14orf119 protein is predicted to be localized in the nucleus. Additionally, c14orf119 expression is decreased in individuals with systemic lupus erythematosus (SLE) when compared with healthy individual and is increased in individuals with various types of lymphomas when compared to healthy individuals.
Family with Sequence Similarity 155 Member B is a protein in humans that is encoded by the FAM155B gene. It belongs to a family of proteins whose function is not yet well understood by the scientific community. It is a transmembrane protein that is highly expressed in the heart, thyroid, and brain.
Chromosome 12 Open Reading Frame 50 (C12orf50) is a protein-encoding gene which in humans encodes for the C12orf50 protein. The accession id for this gene is NM_152589. The location of C12orf50 is 12q21.32. It covers 55.42 kb, from 88429231 to 88373811, on the reverse strand. Some of the neighboring genes to C12orf50 are RPS4XP15, LOC107984542, and C12orf29. RPS4XP15 is upstream C12orf50 and is on the same strand. LOC107984542 and C12orf29 are both downstream. LOC107984542 is on the opposite strand while C12orf29 is on the same strand. C12orf50 has six isoforms. This page is focusing on isoform X1. C12orf50 isoform X1 is 1711 nucleotides long and has a protein with a length of 414 aa.
GPATCH2L is a protein that is encoded by the GPATCH2L human gene located at 14q24.3. In humans, the length of mRNA in GPATCH2L (NM_017926) is 14,021 base pairs and the gene spans bases is 62,422 nt between chr14: 76,151,922 - 76,214,343. GPATCH2L is on the positive strand. IFT43 is the gene directly before GPATCH2L on the positive strand and LOC105370575 is the uncharacterized gene on the negative strand, which is approximately one and a half the size of GPATCH2L. Known aliases for GPATCH2L contain C14orf118, FLJ20689, FLJ10033, and KIAA1152. GPATCH2L produces 28 distinct introns, 17 different mRNAs, 14 alternatively spliced variants, and 3 unspliced forms. It has 5 probable alternative promoters, 7 validated polyadenylation sites, and 6 predicted promoters of varying lengths.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
C13orf42 is a protein which, in humans, is encoded by the gene chromosome 13 open reading frame 42 (C13orf42). RNA sequencing data shows low expression of the C13orf42 gene in a variety of tissues. The C13orf42 protein is predicted to be localized in the mitochondria, nucleus, and cytosol. Tertiary structure predictions for C13orf42 indicate multiple alpha helices.
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.
C10orf53 is a protein that in humans is encoded by the C10orf53 gene. The gene is located on the positive strand of the DNA and is 30,611 nucleotides in length. The protein is 157 amino acids and the gene has 3 exons. C10orf53 orthologs are found in mammals, birds, reptiles, amphibians, fish, and invertebrates. It is primarily expressed in the testes and at very low levels in the cerebellum, liver, placenta, and trachea.
Maestro heat-like repeat-containing protein family member 9 (MROH9) is a protein which in humans is encoded by the MROH9 gene. The word ‘maestro’ itself is an acronym, standing for male-specific transcription in the developing reproductive organs (MRO). MRO genes belong to the MROH family, which includes MROH9.
C6orf163 is a human protein encoded by the C6orf163 gene.
Leucine-rich repeat-containing protein 74A (LRRC74A), is a protein encoded by the LRRC74A gene. The protein LRRC74A is localized in the cytoplasm. It has a calculated molecular weight of approximately 55 kDa. The LRRC74A protein is nominally expressed in the testis, salivary gland, and pancreas.