Ccdc60
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Coiled-coil domain containing 60 is a protein that in humans is encoded by the CCDC60 gene that is most highly expressed in the trachea, salivary glands, bladder, cervix, and epididymis.[5]
| CCDC60 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CCDC60, coiled-coil domain containing 60 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2141043; HomoloGene: 18624; GeneCards: CCDC60; OMA:CCDC60 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene
The gene that encodes CCDC60 is located on the plus strand of chromosome 12 (12q24.23) and contains 14 exons.[6] The gene spans positions 119334712-119541047.[7] The first record of the gene that encodes CCDC60 in the NCBI nucleotide database originated from a data set containing 15,000 human and mouse full-length cDNA sequences.[6]
Protein
CCDC60 is made up of 550 amino acids.[9] The computational isoelectric point of CCDC60 is 9.17 and the computational molecular weight is approximately 63kDa.[10] Western blots of RT-4 and U-251 cell lines support the predicted molecular weight.[11] The predicted subcellular location of CCDC60 is the mitochondria.[12] The secondary structure of CCDC60 contains a namesake coiled-coil domain in addition to predicted alpha helices and coils.[13]
Regulation
Gene expression
The expression of CCDC60 is tissue-specific. CCDC60 is most highly expressed in the trachea, salivary glands, bladder, cervix, and epididymis.[5] CCDC60 is also expressed in epithelial cells of the upper respiratory system.[14] RNA seq data shows relatively high levels of expression in the prostate, moderate expression in the lungs and ovaries, and low expression in the colon, adrenal gland, and brain.[15]
Transcription factors
There are many candidate transcription factors that bind to the promoter region of the gene that encodes CCDC60.[16]
| Family | Description |
|---|---|
| CAAT | CCAAT binding factor |
| XBBF | X-box binding factor |
| MZF1 | Myeloid zinc finger 1 factor |
| EGRF | Wilms tumor suppressor |
| KLFS | Krueppel-like factor 2 (lung) (LKLF) |
| ZFO2 | C2H2 zinc finger transcription factor 2 |
| CALM | Calmodulin-binding transcription activator (CAMTA1, CAMTA2) |
| SORY | SRY (sex determining region Y) |
| SAL1 | Spalt-like transcription factor 1 |
| VTBP | Vertebrate TATA binding protein factor |
| RUSH | SWI/SNF related, actin dependent regulator of chromatin, subfamily a, member 3 |
| ETSF | Human and murine ETS1 factors |
| HAND | Twist subfamily of class B bHLH transcription factor |
| HESF | Basic helix-loop-helix protein known as Dec2, Sharp1 or BHLHE41 |
| ZFHX | Two-handed zinc finger homeodomain transcription factor |
| CART | Cart-1 (cartilage homeoprotein 1) |
| HEAT | Heat shock factor 2 |
Post-translational modification
CCDC60 is a candidate for phosphorylation by Protein kinase C.[17] The initial methionine residue is predicted to be cleaved from the polypeptide after translation.[18]
Evolutionary history
Orthologs
The most distantly related organism in which a likely ortholog to Human CCDC60 can be found in is Amphimedon queenslandica, a sea sponge. Orthologs to Human CCDC60 are not found in any prokaryotes. Interestingly, there are no known orthologs in arthropods, although there are many other invertebrates that possess likely orthologs.
Paralogs
There are no known paralogs of CCDC60.
Protein interactions
There are several binary protein interactions involving CCDC60 that have been experimentally verified.[21]
| Protein | Function[22] | Interaction |
| UPF3B | Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. | Physical Association[23] |
| ZNF593 | Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity. | Physical Association[23] |
| FAM32A | Isoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis. | Physical Association[23] |
| RBM42 | Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA. | Physical Association[23] |
| DCP1B | May play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. | Physical Association[23] |
| EGFR | Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses. | Physical Association[24] |
| FAM204A | Unknown function. | Physical Association[23] |
| APP | Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. | Direct Interaction[25] |
| MTUS2 | Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules. | Direct Interaction[26] |
| B9D1 | Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. | Direct Interaction[27] |
Clinical significance
Mutations in CCDC60 have been associated with decreased walking speed.[28] Additionally, CCDC60 is one of many candidate genes that has been associated with diagnosis of schizophrenia in genome-wide study.[29]