C13orf38

CCDC169
Identifiers
Aliases	CCDC169, C13orf38, coiled-coil domain containing 169
External IDs	MGI: 2444356; GeneCards: CCDC169
Gene location (Human) Chr. Chromosome 13 (human) Band 13q13.3 Start 36,222,008 bp End 36,297,840 bp
Gene location (Mouse) Chr. Chromosome 3 (mouse) Band 3|3 C Start 55,044,760 bp End 55,080,356 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm left testis right testis testicle gonad stromal cell of endometrium smooth muscle tissue muscle layer of sigmoid colon prefrontal cortex muscle of thigh Top expressed in spermatid lumbar subsegment of spinal cord morula embryo spermatocyte neural layer of retina testicle zygote seminiferous tubule islet of Langerhans More reference expression data BioGPS n/a
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 728591 320604 Ensembl ENSG00000242715 ENSMUSG00000048655 UniProt A6NNP5 Q8BXX9 RefSeq (mRNA) NM_001198908 NM_001144981 NM_001144982 NM_001144983 NM_001144984 NM_001144985 NM_001144986 NM_001290138 NM_001290141 NM_177203 RefSeq (protein) NP_001138453 NP_001138454 NP_001138455 NP_001138456 NP_001138457 NP_001138458 NP_001185837 NP_001277067 NP_001277070 NP_796177 Location (UCSC) Chr 13: 36.22 – 36.3 Mb Chr 3: 55.04 – 55.08 Mb PubMed search
Wikidata
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Coiled-coil domain-containing protein 169 is a protein which in humans is encoded by the gene CCDC169 (previously C13orf38). The CCDC169 protein is 139 amino acids long. The protein is found to be over expressed in the testis of humans.

Alternative Splicing

CCDC169 has seven isoforms, a through e. This gene may form a fusion gene with SOHLH2 called CCDC169-SOHLH2 which encodes a protein called CCDC169-SOHLH2 Protein.

Protein regulation

There is evidence that the protein is retained in the nucleus. There are several leucine-rich nuclear export signals in the amino acid sequence of the protein. Making it likely to be retained in the nucleus after transcription.

Gene expression

Tissue expression

C13orf38 is over expressed in the testis of humans. It has very weak expression data in the bone marrow, brain, and vascular tissues. It is expressed in several types of tumors – brain, lung, and germ cell tumors. It can also be expressed in leukemia cells.

Homologs and paralogs

Homologs were found mostly in primates. The homolog with the furthest divergence would be the Hood coral, which predates humans by 686 million years.

There are two low identity paralogs and two hypothetical protein paralogs found through the sequencing of the human genome.

Genetic divergence

Diverges 432 million years ago from Zebra fish. The most divergent species would be the Hood coral, Stylophora pistillata, at 686 million years ago.

Interacting proteins

Protein annotation score AGPAT1 1-acyl-sn-glycerol-3-phosphate acyltransferase alpha; Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone; 1-acylglycerol-3-phosphate O-acyltransferases 0.471 BAIAP3 BAI1 associated protein 3; C2 domain containing 0.708 CLMP CXADR-like membrane protein; May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development; I-set domain containing 0.526 GABRQ Gamma-aminobutyric acid receptor subunit theta; GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel; Gamma-aminobutyric acid type A receptor subunits 0.695 KCNK12 Potassium channel subfamily K member 12; Probable potassium channel subunit. No channel activity observed in heterologous systems. May need to associate with another protein to form a functional channel (By similarity); Potassium two pore domain channel subfamily K 0.677 NEMF Nuclear export mediator factor NEMF; Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. NEMF is responsible for selective recognition of stalled 60S subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety. NEMF is important for the stable association of LTN1 to the complex. May indirectly play a role in nuclear export 0.572 TRIM68 E3 ubiquitin-protein ligase TRIM68; Functions as a ubiquitin E3 ligase. Acts as a coactivator of androgen receptor (AR) depending on its ubiquitin ligase activity; Ring finger proteins 0.559 VAV3 Guanine nucleotide exchange factor VAV3; Exchange factor for GTP-binding proteins RhoA, RhoG and, to a lesser extent, Rac1. Binds physically to the nucleotide-free states of those GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1- induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity). May be important for integrin-mediated signaling, at least in some cell types. In osteoclasts, along with SYK tyrosine kinase, required for signaling through integrin alpha-v/beta-1 (ITAGV-ITGB1), a [...] 0.522 WBSCR17 Polypeptide N-acetylgalactosaminyltransferase 17; May catalyze the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D- galactosamine residue to a serine or threonine residue on the protein receptor 0.685 ZNF562 Zinc finger protein 562; May be involved in transcriptional regulation; Zinc fingers C2H2-type 0.658

Experimental data

Cdcc169 has been used in a variety of tissue expression experiments. One study was done on a variety of tissues in order to show that gene expression in the mid-range of tissue expression can give a strong clue to the function of a gene. The study covered and analyzed set of 62,839 probe sets in 12 representative normal human tissues. 0 represents housekeeping genes and 1 is for tissue specific genes. CCDC 169 was found not to have housekeeping gene type expression. It was tissue specific and appeared in the prostate.

A systematic survey of gene expression in 115 human tissue samples representing 35 different tissue types. The study used cDNA micro-arrays representing approximately 26,000 different human genes. The study included Ccdc169, which showed a strong positive expression in the testes. This study goal was to find a baseline which could be used to help identify diseased tissue and look at genes with tissue specific expression and how those can be used as markers for detecting diseased and injured tissue in organs. Could be used in anticancer therapy.