Chromosome 1 open reading frame 194 (C1orf194) is a gene from Homo sapiens. The function of the protein coded by the gene is still not understood by the scientific community.
C1orf194 is located on the sense strand of chromosome 1 at loci p13.3. [1] Alternative splicing results in five different isoforms for this gene composed of any combination of six exons. [1] C1orf194 is located near the KIAA1324 gene, poly(rC) binding protein 1 pseudogene, small Cajal body-specific RNA 2 gene, and the seryl-tRNA synthetase gene. [2] KIAA1324 is the closest gene neighbor to C1orf194 located 86bp from the start of C1orf194 on the non-sense strand of chromosome 1. [2]
C1orf194 is composed of a total of six exons.
While the primary function of the protein encoded by this gene is still not understood by the scientific community, it is known to be present within ependymal tumors, specifically adult spinal ependymoma when reciprocally fused with UQCR10. [3] There also seems to be a higher relative abundance of the protein found in the testes and lungs compared to other locations within the body. [1] Variants 1, 2, and 4 of the gene code for a protein, while variants 3 and 5 code for a nonsense mediated decay. [1]
When the mouse gene equivalent to this gene is aligned next to it there is only 13.2% identity. The gorilla homolog has a high identity with 64.3%.
The gene C1orf194 has one paralogue found within the human genome hCG39930. This sequence is 98% identical and 97% similar. With these numbers being so high, it was initially believed to be an alias to one of the gene’s isoform. After, careful comparison this was not the case as its length did not match any of the known isoforms.[1]
With the discovery of only one paralog, one can believe that the gene family is not large. But the amount of orthologs found for this gene leads one to assume that it has been highly conserved in one form or another through a variety of organisms. An ortholog was found within invertebrates, bacteria, plants, fish, amphibians, reptiles, birds, marsupials, placental mammals, and primates.
Chromosome 16 open reading frame 95 (C16orf95) is a gene which in humans encodes the protein C16orf95. It has orthologs in mammals, and is expressed at a low level in many tissues. C16orf95 evolves quickly compared to other proteins.
The coiled-coil domain containing 142 (CCDC142) is a gene which in humans encodes the CCDC142 protein. The CCDC142 gene is located on chromosome 2, spans 4339 base pairs and contains 9 exons. The gene codes for the coiled-coil domain containing protein 142 (CCDC142), whose function is not yet well understood. There are two known isoforms of CCDC142. CCDC142 proteins produced from these transcripts range in size from 743 to 665 amino acids and contain signals suggesting protein movement between the cytosol and nucleus. Homologous CCDC142 genes are found in many animals including vertebrates and invertebrates but not fungus, plants, protists, archea, or bacteria. Although the function of this protein is not well understood, it contains a coiled-coil domain and a RINT1_TIP1 motif located within the coiled-coil domain.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
OCC-1 is a protein, which in humans is encoded by the gene C12orf75. The gene is approximately 40,882 bp long and encodes 63 amino acids. OCC-1 is ubiquitously expressed throughout the human body. OCC-1 has shown to be overexpressed in various colon carcinomas. Novel splice variant of this gene was also detected in various human cancer types; in addition to encoding a novel smaller protein, OCC-1 gene produces a non-protein coding RNA splice variant lncRNA.
Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.
BEND2 is a protein that in humans is encoded by the BEND2 gene. It is also found in other vertebrates, including mammals, birds, and reptiles. The expression of BEND2 in Homo sapiens is regulated and occurs at high levels in the skeletal muscle tissue of the male testis and in the bone marrow. The presence of the BEN domains in the BEND2 protein indicates that this protein may be involved in chromatin modification and regulation.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
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.
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.
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.
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.
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.
C2orf74, also known as LOC339804, is a protein encoding gene located on the short arm of chromosome 2 near position 15 (2p15). Isoform 1 of the gene is 19,713 base pairs long. C2orf74 has orthologs in 135 different species, including primarily placental mammals and some marsupials.
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.
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 20 open reading frame 85, or most commonly known as C20orf85 is a gene that encodes for the C20orf85 Protein. This gene is not yet well understood by the scientific community.
Chromosome 4 open reading frame 50 is a protein that in humans is encoded by the C4orf50 gene. The protein localizes in the nucleus. C4orf50 has orthologs in vertebrates but not invertebrates
NADP-dependent oxidoreductase domain-containing protein 1 is a protein that in humans is encoded by the NOXRED1 gene. An alias of this gene is Chromosome 14 Open Reading Frame 148 (c14orf148). This gene is located on chromosome 14, at 14q24.3. NOXRED1 is predicted to be involved in pyrroline-5-carboxylate reductase activity as part of the L-proline biosynthetic pathway. It is expressed in a wide variety of tissues at a relatively low level, including the testes, thyroid, skin, small intestine, brain, kidney, colon, and more.
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 19 open reading frame 47 is a protein that in humans is encoded by the C19orf47 gene. Aliases include Chromosome 19 Open Reading Frame 47, FLJ36888, DKZp686P05129, and LOCI26526.