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| Aliases | CCDC60 , coiled-coil domain containing 60 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2141043 HomoloGene: 18624 GeneCards: CCDC60 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
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]
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]
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]
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 |
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]
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.
There are no known paralogs of CCDC60.
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] |
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]
CCDC186 is a protein that in humans is encoded by the CCDC186 gene The CCDC186 gene is also known as the CTCL-tumor associated antigen with accession number NM_018017.
Coiled-coil domain-containing 78 (CCDC78) is a protein in humans encoded by the CCDC78 gene. It has several aliases including C16orf25, FLJ34512, CNM4, and JFP10. It is located on the (-) strand on chromosome 16 (16p13.3). Its gene neighborhood includes NARFL, HAGHL, FAM173A, and METRN. The CCDC78 gene is 10,892 base pairs long, and the protein contains 438 amino acids. The protein weighs approximately 4.852 KDal. There are several isoforms, including one indicated with a unique congenital myopathy. Several expression profiles show it has ubiquitous expression at moderate levels. Although no paralogs exist several orthologs do.
Coiled-coil domain containing 130 is a protein that in humans is encoded by the CCDC130 gene. It is part of the U4/U5/U6 tri-snRNP in the U5 portion. This tri-snRNP comes together with other proteins to form complex B of the mature spliceosome. The mature protein is approximately 45 kilodaltons (kDa) and is extremely hydrophilic due to the abnormally high number of charged and polar amino acids. CCDC130 is a highly conserved protein, it has orthologous genes in some yeasts and plants that were found using nucleotide and protein versions of the basic local alignment search tool (BLAST) from the National Center for Biotechnology Information. GEO profiles for CCDC130 have shown that this protein is ubiquitously expressed, but the highest levels of expression are found in T-lymphocytes.
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.
Coiled-Coil Domain Containing protein 82 (CCDC82) is a protein that in humans, is encoded for by the gene of the same name, CCDC82. The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving CCDC82 and the function remains unknown.
Coiled Coil Domain Containing protein 42B, also known as CCDC42B, is a protein encoded by the protein-coding gene CCDC42B.
Coiled-coil domain 47 (CCDC47) is a gene located on human chromosome 17, specifically locus 17q23.3 which encodes for the protein CCDC47. The gene has several aliases including GK001 and MSTP041. The protein itself contains coiled-coil domains, the SEEEED superfamily, a domain of unknown function (DUF1682) and a transmembrane domain. The function of the protein is unknown, but it has been proposed that CCDC47 is involved in calcium ion homeostasis and the endoplasmic reticulum overload response.
Coiled-coil domain-containing 37, also known as FLJ40083, is a protein that in humans is encoded by the CCDC37 gene (3q21.3). There is no confirmed function of CCDC37.
Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
Retroelement silencing factor 1 is a protein that in humans is encoded by the RESF1 gene. RESF1 is broadly expressed in the lymph nodes, ovaries, appendix and spleen. RESF1 shows characteristics of being a minor histocompatibility antigen, as well as tumor suppressor capabilities. The high expression in the lymph nodes and spleen indicate function in the immune system.
Coiled-coil domain containing 74A is a protein that in humans is encoded by the CCDC74A gene. The protein is most highly expressed in the testis and may play a role in developmental pathways. The gene has undergone duplication in the primate lineage within the last 9 million years, and its only true ortholog is found in Pan troglodytes.
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.
Transmembrane protein 171 (TMEM171) is a protein that in humans is encoded by the TMEM171 gene.
C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.
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.
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.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
Coiled-Coil Domain Containing 190, also known as C1orf110, the Chromosome 1 Open Reading Frame 110, MGC48998 and CCDC190, is found to be a protein coding gene widely expressed in vertebrates. RNA-seq gene expression profile shows that this gene selectively expressed in different organs of human body like lung brain and heart. The expression product of c1orf110 is often called Coiled-coil domain-containing protein 190 with a size of 302 aa. It may get the name because a coiled-coil domain is found from position 14 to 72. At least 6 spliced variants of its mRNA and 3 isoforms of this protein can be identified, which is caused by alternative splicing in human.
CCDC188 or coiled-coil domain containing protein is a protein that in humans is encoded by the CCDC188 gene.
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