| CCDC113 | |||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | CCDC113 , HSPC065, coiled-coil domain containing 113 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616070 MGI: 3606076 HomoloGene: 40927 GeneCards: CCDC113 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||||
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 of mRNA and 377 amino acids. [5] [6] [7]
CCDC113 is located on chromosome 16q21 and encodes two distinct isoforms with isoform 2 containing one less alternate in-frame exon compared to the full length protein, isoform 1. Isoform 1 is composed of 5304 base pairs of mRNA which form the 9 exons that make up the coding sequence. [8]
CCDC113, located between nucleotides 58283840 and 58317740 on chromosome 16, is surrounded between antisense genes PRSS54 and CSNK2A2 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. [10] CSNK2A2 the casein kinase 2, alpha prime polypeptide contains a protein kinase domain and a catalytic domain. [11] GINS3 is essential for the initiation of DNA replication and replisome progression in eukaryotes. [12] 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. [13]
CCDC113 has one known paralog CCDC96 which has a query cover of 27% and a max identity value of 34%. [14]
| Name | Species | Species Common Name | NCBI Accession Number | Length | Protein Identity |
|---|---|---|---|---|---|
| CCDC113 | Homo sapiens | Human | NP_054876.2 | 377aa | 100% |
| CCDC96 | Homo sapiens | Human | NP_699207.1 | 555aa | 34% |
CCDC113 is highly conserved in all mammals and in organisms diverging back to Zebrafish, Danio rerio . [14]
| Species | Species common name | NCBI Accession Number (mRNA/Protein) | Length (bp/aa) | Protein Identity |
|---|---|---|---|---|
| Homo sapiens | Human | NM_014157.3 / NP_054876.2 | 5304bp/377aa | 100% |
| Pan troglodytes | Chimpanzee | XM_523504.4/ / XP_523504.2 | 5269bp/377aa | 99% |
| Mus musculus | Mouse | NM_172914.2 / NP_766502.1 | 1271bp/377aa | 78% |
| Felis catus | Cat | XM_003998086.1 / 410983617 | 1252bp/323aa | 69% |
| Xenopus (Silurona) tropicalis | Western Clawed Frog | XM_002931657.1 / 301604136 | 1395bp/441aa | 43% |
| Danio rerio | Zebrafish | NM_001006061.1 / NP_001006061.1 | 1154bp/358aa | 38% |
The CCDC113 protein is composed of 377 amino acids which form a secondary structure composed primarily of alpha-helices. [8] [15] This protein contains a domain of unknown function DUF4201. There are many predicted post-translational modifications including phosphorylation, N-terminal acetylation, sumoylation, and N-glycosylation. [16]
The function of CCDC113 is currently unknown.
CCDC 113 is expressed at low levels in nearly all tissues of the body by 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. [17] There are high levels of expression in the cerebellum and in the testis and surrounding tissues. [18]
Regulatory elements of CCDC113 include transcription factors ATF2, FOXD1, LCR-F1, C/EBPalpha, Max, AREB6, CBF-A, CBF(2), c-Myc, and HIF. [8]
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, [19] IMMT, an inner mitochondrial membrane protein, and PFN2; Profilin 2- ubiquitous actin monomer binding protein. [8]
Studies have linked expression of CCDC113 in cancerous tissues to mutations 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. [20]
Chromosome 21 is one of the 23 pairs of chromosomes in humans. Chromosome 21 is both the smallest human autosome and chromosome, with 45 million base pairs representing about 1.5 percent of the total DNA in cells. Most people have two copies of chromosome 21, while those with three copies of chromosome 21 have Down syndrome, also called "trisomy 21".
Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans 201 million base pairs and represents about 6.5 percent of the total DNA in cells.
Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 193 million base pairs and represents between 6 and 6.5 percent of the total DNA in cells.
Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs and represents between 4 and 4.5 percent of the total DNA in cells.
Chromosome 14 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 14 spans about 101 million base pairs and represents between 3 and 3.5% of the total DNA in cells.
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs and represents between 2.5 and 3% of the total DNA in cells.
Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 66 million base pairs.
Transmembrane protein 242 (TMEM242) is a protein that in humans is encoded by the TMEM242 gene. The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called C6orf35, BM033, and UPF0463 Transmembrane Protein C6orf35. The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. The function of this protein is not well understood by the scientific community. This protein contains a DUF1358 domain.
Coiled coil domain containing protein 120 (CCDC120), also known as JM11 protein, is a protein that, in humans, is encoded by the CCDC120 gene. The function of CCDC120 has not been formally identified but structural components, conservation, and interactions can be identified computationally.
Coiled-coil domain-containing protein 138, also known as CCDC138, is a human protein encoded by the CCDC138 gene. The exact function of CCDC138 is unknown.
C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
FAM76A is a protein that in Homo sapiens is encoded by the FAM76A gene. Notable structural characteristics of FAM76A include an 83 amino acid coiled coil domain as well as a four amino acid poly-serine compositional bias. FAM76A is conserved in most chordates but it is not found in other deuterostrome phlya such as echinodermata, hemichordata, or xenacoelomorpha—suggesting that FAM76A arose sometime after chordates in the evolutionary lineage. Furthermore, FAM76A is not found in fungi, plants, archaea, or bacteria. FAM76A is predicted to localize to the nucleus and may play a role in regulating transcription.
C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization.
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.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.
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.
OCEL1, also called Occludin//ELL Domain Containing 1, is a protein encoding gene located at chromosome 19p13.11 in the human genome. Other aliases for the gene include FLJ22709, FWP009, and S863-9. The function of OCEL1 has not yet been identified.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
Leucine-rich repeat-containing protein 74A (LRRC74A), is a protein encoded by the LRRC74A gene. The protein LRRC74A is localized in the cytoplasm. It has a calculated molecular weight of approximately 55 kDa. The LRRC74A protein is nominally expressed in the testis, salivary gland, and pancreas.
