CCDC113

CCDC113
Identifiers
Aliases	CCDC113, HSPC065, coiled-coil domain containing 113
External IDs	OMIM: 616070 MGI: 3606076 HomoloGene: 40927 GeneCards: CCDC113
Gene location (Human) Chr. Chromosome 16 (human) Band 16q21 Start 58,231,157 bp End 58,283,836 bp
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 D1 Start 96,260,713 bp End 96,285,518 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell right uterine tube endothelial cell trachea middle temporal gyrus Brodmann area 23 caput epididymis internal globus pallidus tibia superior frontal gyrus Top expressed in spermatid spermatocyte seminiferous tubule olfactory epithelium morula left lung lobe right lung lobe esophagus visual cortex superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component microtubule organizing center centriolar satellite cytoskeleton cytoplasm nucleoplasm cytosol protein-containing complex Biological process cell projection organization cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29070 244608 Ensembl ENSG00000103021 ENSMUSG00000036598 UniProt Q9H0I3 Q8C5T8 RefSeq (mRNA) NM_001142302 NM_014157 NM_172914 RefSeq (protein) NP_001135774 NP_054876 NP_766502 Location (UCSC) Chr 16: 58.23 – 58.28 Mb Chr 8: 96.26 – 96.29 Mb PubMed search
Wikidata
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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.

Gene

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.

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.CSNK2A2 the casein kinase 2, alpha prime polypeptide contains a protein kinase domain and a catalytic domain.GINS3 is essential for the initiation of DNA replication and replisome progression in eukaryotes.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 amino acids which form a secondary structure composed primarily of alpha-helices. 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.

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 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 and in the testis and surrounding tissues.

CCDC113 expression in human tissues.

Interactions

Regulatory elements of CCDC113 include transcription factors ATF2, 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,IMMT, 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 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.

External links

• Human CCDC113 genome location and CCDC113 gene details page in the UCSC Genome Browser.