CCDC60

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.

Gene The gene that encodes CCDC60 is located on the plus strand of chromosome 12 (12q24.23) and contains 14 exons. The gene spans positions 119334712-119541047. 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.

Protein

CCDC60 is made up of 550 amino acids. The computational isoelectric point of CCDC60 is 9.17 and the computational molecular weight is approximately 63kDa. Western blots of RT-4 and U-251 cell lines support the predicted molecular weight. The predicted subcellular location of CCDC60 is the mitochondria. The secondary structure of CCDC60 contains a namesake coiled-coil domain in addition to predicted alpha helices and coils.

Regulation

Gene expression The expression of CCDC60 is tissue-specific. CCDC60 is most highly expressed in the trachea, salivary glands, bladder, cervix, and epididymis. CCDC60 is also expressed in epithelial cells of the upper respiratory system. 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.

Transcription factors There are many candidate transcription factors that bind to the promoter region of the gene that encodes CCDC60. +Candidate Transcription Factor Binding SitesFamilyDescriptionCAATCCAAT binding factorXBBFX-box binding factorMZF1Myeloid zinc finger 1 factorEGRFWilms tumor suppressorKLFSKrueppel-like factor 2 (lung) (LKLF)ZFO2C2H2 zinc finger transcription factor 2CALMCalmodulin-binding transcription activator (CAMTA1, CAMTA2)SORYSRY (sex determining region Y)SAL1Spalt-like transcription factor 1VTBPVertebrate TATA binding protein factorRUSHSWI/SNF related, actin dependent regulator of chromatin, subfamily a, member 3ETSFHuman and murine ETS1 factorsHANDTwist subfamily of class B bHLH transcription factorHESFBasic helix-loop-helix protein known as Dec2, Sharp1 or BHLHE41ZFHXTwo-handed zinc finger homeodomain transcription factorCARTCart-1 (cartilage homeoprotein 1)HEATHeat shock factor 2

Post-translational modification CCDC60 is a candidate for phosphorylation by Protein kinase C. The initial methionine residue is predicted to be cleaved from the polypeptide after translation.

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. + CCDC60 OrthologsOrganismTaxonomic GroupDivergence (MYA)Accession NumberSequence LengthShared Sequence IdentityHumanHominidae0NP_848594.2550100%Philippine tarsierTarsiidae67XP_008067500.155977.29%Gray mouse lemurLemuriformes73XP_012612137.154877.60%Yellow-bellied marmotRodentia90XP_027779037.155976.32%Sea otterCarnivora96XP_022373045.154884.90%Florida ManateePlacentalia105XP_004379174.155183.64%Common wombatMarsupialia159XP_027721296.156462.86%Southern OstrichAves312XP_009685824.148937.03%Bald eagleAves320XP_010573943.166132.02%High Himalaya FrogAmphibia352XP_018413991.154037.31%Western clawed frogAmphibia352XP_012824143.165732.70%Yellowhead CatfishOsteichthyes435XP_027018543.157726.93%Whale SharkChondrichthyes473XP_020385120.167234.87%Sea VaseAscidiacea676XP_009860110.281828.31%Acorn WormHemichordata684XP_006811258.173327.87%Pacific Purple Sea UrchinEchinoidea684XP_011683370.179123.76%California two-spot octopusMollusca797XP_014780749.168927.05%Mountainous Star CoralCnidaria824XP_020617162.186431.28%TrichoplaxPlacozoa948XP_002117053.1124734.84%SpongePorifera952XP_011405574.256922.87%

Paralogs There are no known paralogs of CCDC60.

Protein interactions There are several binary protein interactions involving CCDC60 that have been experimentally verified. +Interacting ProteinsProteinFunctionInteractionUPF3BInvolved 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 AssociationZNF593Negatively modulates the DNA binding activity of Oct-2 and therefore its transcriptional regulatory activity.Physical AssociationFAM32AIsoform 1, but not isoform 2 or isoform 3, may induce G2 arrest and apoptosis.Physical AssociationRBM42Binds (via the RRM domain) to the 3'-untranslated region (UTR) of CDKN1A mRNA.Physical AssociationDCP1BMay play a role in the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay.Physical AssociationEGFRReceptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses.Physical AssociationFAM204AUnknown function.Physical AssociationAPPFunctions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis.Direct InteractionMTUS2Binds microtubules. Together with MAPRE1 may target the microtubule depolymerase KIF2C to the plus-end of microtubules.Direct InteractionB9D1Component 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

Clinical significance Mutations in CCDC60 have been associated with decreased walking speed. Additionally, CCDC60 is one of many candidate genes that has been associated with diagnosis of schizophrenia in genome-wide study.

References