| C1orf127 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C1orf127 , chromosome 1 open reading frame 127 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2685418 HomoloGene: 52134 GeneCards: C1orf127 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Uncharactarized protein C1orf127 is a protein that in humans is encoded by the C1orf127 gene, the structure and function of which is poorly understood by the scientific community. C1orf127 is targeted for extracellular secretion in humans.
C1orf127 is located on the short arm of Chromosome 1 (1p36.22), spanning 35,566 base pairs from 10946471 to 10982037. It is oriented on the minus strand of the chromosome.
The primary assembly has 13 exons, and yields an 823 amino acid protein product. There are two known isoforms caused by alternative splicing. [5]
C1orf127's protein product is a member of the Ensembl protein family TF607005. [6] The primary assembly weighs 89 kDa with an isoelectric point of 5.54, making it both longer and heavier than the average protein. [7]
C1orf127 is contains two protein domains: DUF4556 and PHA03247, a domain in the Atrophin-1 superfamily. [8] The functions of both domains are unknown. The protein also appears to have a cleavable signal peptide from Met1 to Pro18. [9]
The protein C1orf127 is suggested to be localized to the extracellular matrix in humans. [9]
C1orf127 undergoes N and O-linked glycosylation, and contains a number of potential phosphorylation sites.
C1orf127 is suggested to interact with two different proteins, CCT3, a molecular chaperone, and CCT6B, also a molecular chaperone found in the testis. Because these interacting proteins are both molecular chaperones, it is possible that C1orf127 must undergo chaperone-assisted folding or unfolding.
C1orf127 is not constitutively expressed, but it is expressed at low to medium levels in a variety of tissues. Greatest expression is observed in the stomach and pancreas. [10] It is also thought to be expressed in certain areas of both the developing and adult brain, such as the cerebellum, as well as skeletal muscle tissue, the testis, cardiac muscle, and throughout the digestive system.
Little else is known about this gene's expression, however a 2012 paper published in the World Journal of Gastroenterology suggested that its mis-expression could be used as a diagnostic marker locus in the detection of cancer [11]
| DUF4556 | |||||||||
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| Identifiers | |||||||||
| Symbol | DUF4556 | ||||||||
| Pfam | PF15094 | ||||||||
| InterPro | IPR027956 | ||||||||
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C1orf127 has no paralogs within the human genome, however a number of orthologs have been identified, ranging across the jawed vertebrates, including a number of other mammals, marsupials, amphibians, and fish. One of the most distant ortholog identified is found in Danio rerio. Thus, the ancestor of C1orf127 likely arose around 435 MYA.
| Species | NCBI Accession Number | Sequence Length | Identity to Human |
|---|---|---|---|
| Papio anubis | XP_021791537.1 | 769 | 89% |
| Saimiri boliviensis boliviensis | XP_010344835.1 | 817 | 79% |
| Octodon degus | XP_023555153.1 | 514 | 55% |
| Jaculus jaculus | XP_004657440.1 | 820 | 53% |
| Heterocephalus glaber | XP_021099206.1 | 811 | 55% |
| Echinops telfairi | XP_012860770.1 | 766 | 65% |
| Chrysochloris asiatica | XP_006866497.1 | 513 | 58% |
| Oryctolagus cuniculus | XP_017195816.1 | 696 | 58% |
| Chinchilla lanigera | XP_005404362.1 | 778 | 55% |
| Loxodonta africana | XP_023408259.1 | 1129 | 52% |
| Sarcophilus harrisii | XP_023344649.1 | 1088 | 56% |
| Phascolarctos cinereus | XP_020835267.1 | 818 | 53% |
| Xenopus laevis | XP_018081142.1 | 690 | 46% |
| Haplochromis burtoni | XP_00591528.1 | 564 | 34% |
| Lates calcarifer | XP_018521386.1 | 360 | 39% |
| Lepisosteus oculatus | XP_015192693.1 | 820 | 40% |
| Acanthochromis polyacanthus | XP_022062388.1 | 397 | 36% |
| Oncorhynchus mykiss | CDQ71724.1 | 496 | 35% |
| Danio rerio | XP_021325672.1 | 328 | 40% |
| Astyanax mexicanus | XP_022532665.1 | 662 | 36% |
Cilia And Flagella Associated Protein 206 (CFAP206) is a gene that in humans encodes a protein “DUF3508”. This protein has a function that is not currently very well understood. Other known aliases are “dJ382I10.1, UPF0704 Protein C6orf165.” In humans, the gene coding sequence is 56,501 base pairs long, with an mRNA of 2,215 base pairs, and a protein sequence of 622 amino acids. The C6orf165 gene is conserved in chimpanzee, rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, mosquito, frog, and more C6orf165 is rarely expressed in humans, with relatively high expression in brain, lungs (trachea) and testis. The molecular weight of UPF0704 is 71,193 Da and the PI is 6.38
C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th chromosome. In Homo sapiens, the protein is 1141 amino acids in length
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.
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 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
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.
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.
Testis expressed 55 (TEX55) is a human protein that is encoded by the C3orf30 gene located on the forward strand of human chromosome three, open reading frame 30 (3q13.32). TEX55 is also known as Testis-specific conserved, cAMP-dependent type II PK anchoring protein (TSCPA), and uncharacterized protein C3orf30.
Small integral membrane protein 11 is a protein which in humans is encoded by the SMIM11 gene.
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.
Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.
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.
Chromosome 3 open reading frame 38 (C3orf38) is a protein which in humans is encoded by the C3orf38 gene.
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 144 (c20orf144) is a human protein-encoding gene. The human c20orf144 protein consists of 153 amino acids, with the first 150 amino acids being characterized as part of the Bcl-2 like protein of testis (Bclt) family.
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.
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.
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.
