| 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; OMA:CCDC120 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]