CCDC113

Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a is_associated_with::protein that in humans is encoded by the CCDC113 is_associated_with::gene. The human CCDC113 gene is located on is_associated_with::chromosome 16q21 and encodes 5,304 is_associated_with::base pairs of mRNA and 377 is_associated_with::amino acids.

Gene
CCDC113 is located on chromosome 16q21 and encodes two distinct is_associated_with::isoforms with isoform 2 containing one less alternate in-frame is_associated_with::exon compared to the full length protein, isoform 1. Isoform 1 is composed of 5304 base pairs of mRNA which form the 9 is_associated_with::exons that make up the coding sequence.



CCDC113, located between nucleotides 58283840 and 58317740 on chromosome 16, is surrounded between antisense genes PRSS54 and is_associated_with::CSNK2A2 and downstream from GINS3 and is_associated_with::NDRG4 on the sense strand. PRSS54 is a trypsin-like is_associated_with::serine protease which codes for the inactive serine protease 54 precursor. is_associated_with::CSNK2A2 the casein kinase 2, alpha prime polypeptide contains a is_associated_with::protein kinase domain and a is_associated_with::catalytic domain. GINS3 is essential for the initiation of is_associated_with::DNA replication and is_associated_with::replisome progression in is_associated_with::eukaryotes. is_associated_with::NDRG4 a member of the is_associated_with::N-myc downregulated gene family belonging to the alpha/beta is_associated_with::hydrolase superfamily which encodes a cytoplasmic protein responsible for is_associated_with::cell cycle progression and survival in primary is_associated_with::astrocytes and may be involved in regulation of mitogenic signaling in is_associated_with::vascular smooth muscle cells.

Paralogs
CCDC113 has one known is_associated_with::paralog CCDC96 which has a query cover of 27% and a max identity value of 34%.

Homologs
CCDC113 is highly conserved in all mammals and in organisms diverging back to Zebrafish, is_associated_with::Danio rerio.

Protein
The CCDC113 protein is composed of 377 is_associated_with::amino acids which form a is_associated_with::secondary structure composed primarily of is_associated_with::alpha-helices. This protein contains a is_associated_with::domain of unknown function DUF4201. There are many predicted is_associated_with::post-translational modifications including is_associated_with::phosphorylation, N-terminal acetylation, is_associated_with::sumoylation, and is_associated_with::N-glycosylation.

Function
The function of CCDC113 is currently unknown.

Expression
CCDC 113 is expressed at low levels in nearly all tissues of the body by is_associated_with::RNA-seq including blood, lymph node, brain, heart, skeletal muscle, kidney, liver, colon, lung, thyroid, prostate, ovary, breast, adrenal gland, and adipocyte. The gene is also expressed in embryonic tissues and stem cells. There are high levels of expression in the is_associated_with::cerebellum and in the is_associated_with::testis and surrounding tissues.



Interactions
is_associated_with::Regulatory elements of CCDC113 include transcription factors is_associated_with::ATF2, FOXD1, LCR-F1, C/EBPalpha, Max, AREB6, CBF-A, CBF(2), is_associated_with::c-Myc, and HIF.

Interacting proteins found using is_associated_with::two-hybrid screening techniques include is_associated_with::GIT1; a G protein-coupled receptor kinase interacting ArfGAP, the cytoplasmic protein HAP1; is_associated_with::Huntingtin-associated protein 1, is_associated_with::IMMT, an inner mitochondrial membrane protein, and is_associated_with::PFN2; Profilin 2- ubiquitous actin monomer binding protein.

Clinical significance
Studies have linked expression of CCDC113 in cancerous tissues to is_associated_with::mutations present in the coding sequence. is_associated_with::Missense mutations at location 86 from Arginine to Tryptophan (R86Y) and at R180C are related to is_associated_with::adenocarcinomas of the colon. Two is_associated_with::point mutations have also been linked to adenocarcinomas of the rectum, a missense mutation of R361Q and a base pair point mutation c972t. is_associated_with::Serous carcinoma of the ovaries has been related to a missense mutation S6F.