CCDC120 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CCDC120 , JM11, Coiled-coil domain containing protein 120, coiled-coil domain containing 120 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 300947 MGI: 1859619 HomoloGene: 14146 GeneCards: CCDC120 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Coiled coil domain containing protein 120 (CCDC120), also known as JM11 protein, is a protein that, in humans, is encoded by the CCDC120 gene. [5] The function of CCDC120 has not been formally identified but structural components, conservation, and interactions can be identified computationally.
The CCDC120 gene is located on human chromosome X, at Xp11.23. [6] There are six different transcript variants of CCDC120 produced by alternative splicing. [7]
The mRNA transcript of CCDC120 contains a 120bp repeat near the 3' end. [8]
CCDC120 has 3 identifiable paralogs in humans, FERM Domain Containing 4A, FERM domain Containing 4B, and C1orf106. [9]
The orthologous space of CCDC120 can be traced back as far as fish such as Danio rerio , Oryzias latipes , and Dicentrarchus labrax . [9]
The CCDC120 protein has four different isoforms, ranging from 618 to 696 amino acids in length. [10] Isoform 1 is the longest isoform and is encoded by transcript 1 of the CCDC120 gene. [11]
Usher Syndrome 1C Binding Protein 1, CYTH2, MDFI, Centrosomal Protein 170kDa Pseudogene 1, and Keratin 15 have all been shown experimentally to interact with CCDC120 [12] Other interactions have been identified by coexpression and datamining and can be seen in the figure.
Algorithms suggest a number of sites of Serine phosphorylation as well as a few sites of Threonine and Tyrosine phosphorylation. Many of these sites are conserved in Gorilla gorilla gorilla , Mus musculus , and Danio rerio . There is one potential N-Glycosylation site identified. [13]
The protein structure of CCDC120 is predicted to contain, as the name implies, a 65 amino acid coiled coil from positions 109-173. [14] Multiple algorithms identify 3 distinct sites where alpha-helical structures could form which are conserved in Gorilla gorilla gorilla and Danio rerio. Algorithms do not agree on any location for a beta sheet structure. [15]
Algorithms suggest that CCDC120 has a promoter of 601bp, [16] this promoter contains a number of possible transcription factor sites as shown in the figure.
CCDC120 was found to be upregulated under pulsed electromagnetic fields in human osteoblast-like cells. [17] CCDC120 has a 7 base deletion in a Metastatic Olfactory Neuroblastoma. [18] CCDC120 is downregulated after neonatal hypoxic-ischemic brain injury in rats. [19]
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.
KIAA0895 is a protein that in Homo sapiens is encoded by the KIAA0895 gene. The gene encodes a protein commonly known as the KIAA0895 protein. It's aliases include hypothetical protein LOC23366, OTTHUMP00000206979, OTTHUMP00000206980, 9530077C05Rik, and 1110003N12Rik. It is located at 7p14.2.
Proline-rich 12 (PRR12) is a protein of unknown function encoded by the gene PRR12.
Protein FAM46B also known as family with sequence similarity 46 member B is a protein that in humans is encoded by the FAM46B gene. FAM46B contains one protein domain of unknown function, DUF1693. Yeast two-hybrid screening has identified three proteins that physically interact with FAM46B. These are ATX1, PEPP2 and DAZAP2.
Family with Sequence Similarity 203, Member B (FAM203B) is a protein encoded by the FAM203B gene (8q24.3) in humans. While FAM203B is only found in humans and possibly non-human primates, its paralog, FAM203A, is highly conserved. The FAM203B protein contains two conserved domains of unknown function, DUF383 and DUF384, and no transmembrane domains. This protein has no known function yet, although the homolog of FAM203A in Caenorhabditis elegans (Y54H5A.2) is thought to help regulate the actin cytoskeleton.
Coiled-coil domain containing 94 (CCDC94) is a protein that in humans is encoded by the CCDC94 gene. The CCDC94 protein contains a coiled-coil domain, a domain of unknown function (DUF572), an uncharacterized conserved protein (COG5134), and lacks a transmembrane domain.
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.
Fanconi Anemia Opposite Strand Transcript protein is a predicted protein that in humans is encoded by the FANCD2OS gene. The name is derived from mRNA transcribed from the strand complementary to the FANCD2 gene.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
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.
Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.
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.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
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.
Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.
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.
Zinc Finger Protein 548 (ZNF548) is a human protein encoded by the ZNF548 gene which is located on chromosome 19. It is found in the nucleus and is hypothesized to play a role in the regulation of transcription by RNA Polymerase II. It belongs to the Krüppel C2H2-type zinc-finger protein family as it contains many zinc-finger repeats.
Secernin-3 (SCRN3) is a protein that is encoded by the human SCRN3 gene. SCRN3 belongs to the peptidase C69 family and the secernin subfamily. As a part of this family, the protein is predicted to enable cysteine-type exopeptidase activity and dipeptidase activity, as well as be involved in proteolysis. It is ubiquitously expressed in the brain, thyroid, and 25 other tissues. Additionally, SCRN3 is conserved in a variety of species, including mammals, birds, fish, amphibians, and invertebrates. SCRN3 is predicted to be an integral component of the cytoplasm.