Coiled-coil domain-containing protein 113 also known as HSPC065, GC16Pof6842 and GC16P044152, is a protein that in humans is encoded by the ''CCDC113'' gene. The human CCDC113 gene is located on chromosome 16q21 and encodes 5,304

base pairs A base pair (bp) is a fundamental unit of double-stranded nucleic acids consisting of two nucleobases bound to each other by hydrogen bonds. They form the building blocks of the DNA double helix and contribute to the folded structure of both DNA ...

of mRNA and 377

amino acids Amino acids are organic compounds that contain both amino and carboxylic acid functional groups. Although hundreds of amino acids exist in nature, by far the most important are the alpha-amino acids, which comprise proteins. Only 22 alpha am ...

Gene

''CCDC113'' is located on chromosome 16q21 and encodes two distinct isoforms with isoform 2 containing one less alternate in-frame

exon An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequen ...

compared to the full length protein, isoform 1. Isoform 1 is composed of 5304 base pairs of mRNA which form the 9

s that make up the coding sequence. CCDC113_coiled-coil_domain_containing_113_-_Homo_sapiens_(human)

''CCDC113'', located between nucleotides 58283840 and 58317740 on chromosome 16, is surrounded between antisense genes ''PRSS54'' and ''

CSNK2A2 Casein kinase II subunit alpha' is an enzyme that in humans is encoded by the ''CSNK2A2'' gene. Interactions CSNK2A2 has been shown to interact with over 160 different substrates. CSNK2A2 has been shown to interact with: * Activating transcri ...

'' and downstream from ''GINS3'' and '' NDRG4'' on the sense strand. ''PRSS54'' is a trypsin-like serine protease which codes for the inactive serine protease 54 precursor. ''

'' the casein kinase 2, alpha prime polypeptide contains a

protein kinase domain The protein kinase domain is a structurally conserved protein domain containing the catalytic function of protein kinases. Protein kinases are a group of enzymes that move a phosphate group onto proteins, in a process called phosphorylation. This ...

and a

catalytic domain In biology and biochemistry, the active site is the region of an enzyme where substrate molecules bind and undergo a chemical reaction. The active site consists of amino acid residues that form temporary bonds with the substrate (binding site) a ...

. ''GINS3'' is essential for the initiation of DNA replication and

replisome The replisome is a complex molecular machine that carries out replication of DNA. The replisome first unwinds double stranded DNA into two single strands. For each of the resulting single strands, a new complementary sequence of DNA is synthe ...

progression in

eukaryotes Eukaryotes () are organisms whose cells have a nucleus. All animals, plants, fungi, and many unicellular organisms, are Eukaryotes. They belong to the group of organisms Eukaryota or Eukarya, which is one of the three domains of life. Bacte ...

. '' NDRG4'' a member of the '' N-myc'' downregulated gene family belonging to the alpha/beta hydrolase superfamily which encodes a cytoplasmic protein responsible for cell cycle progression and survival in primary astrocytes and may be involved in regulation of mitogenic signaling in vascular smooth muscle cells.

Homology

Paralogs

''CCDC113'' has one known 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, '' Danio rerio''.

Protein

The CCDC113 protein is composed of 377

which form a

secondary structure Protein secondary structure is the three dimensional conformational isomerism, form of ''local segments'' of proteins. The two most common Protein structure#Secondary structure, secondary structural elements are alpha helix, alpha helices and beta ...

composed primarily of alpha-helices. This protein contains a

domain of unknown function A domain of unknown function (DUF) is a protein domain that has no characterised function. These families have been collected together in the Pfam database using the prefix DUF followed by a number, with examples being DUF2992 and DUF1220. As of 201 ...

DUF4201. There are many predicted

post-translational modifications Post-translational modification (PTM) is the covalent and generally enzymatic modification of proteins following protein biosynthesis. This process occurs in the endoplasmic reticulum and the golgi apparatus. Proteins are synthesized by ribosomes ...

including

phosphorylation In chemistry, phosphorylation is the attachment of a phosphate group to a molecule or an ion. This process and its inverse, dephosphorylation, are common in biology and could be driven by natural selection. Text was copied from this source, wh ...

, N-terminal acetylation,

sumoylation In molecular biology, SUMO (Small Ubiquitin-like Modifier) proteins are a family of small proteins that are covalently attached to and detached from other proteins in cells to modify their function. This process is called SUMOylation (sometimes w ...

, and 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

RNA-seq RNA-Seq (named as an abbreviation of RNA sequencing) is a sequencing technique which uses next-generation sequencing (NGS) to reveal the presence and quantity of RNA in a biological sample at a given moment, analyzing the continuously changing c ...

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

cerebellum The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebel ...

and in the testis and surrounding tissues.

Interactions

Regulatory elements of CCDC113 include transcription factors

ATF2 Activating transcription factor 2, also known as ATF2, is a protein that, in humans, is encoded by the ''ATF2'' gene. Function This gene encodes a transcription factor that is a member of the leucine zipper family of DNA-binding proteins. This ...

, FOXD1, LCR-F1, C/EBPalpha, Max, AREB6, CBF-A, CBF(2), c-Myc, and HIF. Interacting proteins found using two-hybrid screening techniques include GIT1; a G protein-coupled receptor kinase interacting ArfGAP, the cytoplasmic protein HAP1;

Huntingtin-associated protein 1 Huntingtin-associated protein 1 (HAP1) is a protein which in humans is encoded by the ''HAP1'' gene. This protein was found to bind to the mutant huntingtin protein () in proportion to the number of glutamines present in the glutamine repeat regio ...

IMMT Mitochondrial inner membrane protein is a protein that in humans is encoded by the ''IMMT'' gene.) ''IMMT'' encodes an inner mitochondrial membrane (IMM) protein in the nucleus. It is posttranslational transported to the IMM. Mic60/Mitofilin (enc ...

, an inner mitochondrial membrane protein, and PFN2; Profilin 2- ubiquitous actin monomer binding protein.

Clinical significance

Studies have linked expression of CCDC113 in cancerous tissues to

mutations In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mi ...

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

References

External links

* {{UCSC gene info, CCDC113 Proteins