C1orf21

Gene

Locus

C1orf198 is a protein-encoding gene found on the reverse strand of chromosome 1 at the locus 1q25.3.

Gene neighborhood

C1orf21 is located on the long arm of chromosome 1. It is found at position 5q23.1.

Cytogenic band: 1q25.3

Size

Chromosome one is one of the longest chromosomes, in which C1orf21 spans from 184,385,826 to 184,390,390 bases, resulting with mRNA transcript that is 10,278 nucleotides long with 4 exons. The protein is 121 amino acids long, containing a domain of unknown function known as DUF4612.

Expression

NCBI gene and RNA-Seq revealed that C1orf21 is expressed in all tissues at a low to moderate level, however, it is mostly expressed in the skin, brain and prostate.

Gene level regulation

Promoter

There was over 7 promoters that were predicted, but the true promoter was 1111 base pairs long known as .

Transcription factor binding sites

Many transcription factor (TF) binding sites have been predicted through Genomatix. Some important binding cites include MYRE, MARs, and Bright.

MYRE is a myelin regulatory factor. Myelin is produced in the central nervous system and plays a large role in axons. MARs is a special AT-rich sequence-binding protein 1, predominantly expressed in thymocytes, binds to matrix attachment regions. Bright helps with B cell regulator of IgH transcription.

Protein

Subcellular location

It was predicted that the location of C1orf21 is in the nucleus with 62.2% certainty. The mitochondria was predicted at 17.4%: mitochondrial, while the cytoskeleton, and vascular system at 4.3%.

Structure

C1orf21 protein is 121 amino acids long with a molecular weight of 18,7 kDa with an isoelectric point of 5.08. It is believed that the protein interacts with the nuclear membrane and contains an unknown domain known as DUF4612. For the secondary and tertiary structure it is predicted that there are many alpha helices in the structure, with the rest of the protein having a disordered structure.

Protein level regulation

• O-glycosylation sites: Serine 5, Threonine 11, Serine 66, Serine 68, and Serine 69.
• Palmitioyaltion site: Cysteine 3
• Phosphorylation: Serine 34, Serine 44, Serine 66, Serine 69, Serine 75, Serine 95, Serine 115, Serine 121
• Sumoylation site: Lysine 46 and Lysine 106
• Tyrosine sulfation site: Tyrosine 113

Interacting proteins

Homology

Paralogs

There are no isoforms or paralogs of C1orf21 that are known.

Orthologs

C1orf21 is found in most classes of vertebrates and some invertebrates. The most distant ortholog of C1orf21 is Acropora digitifera, which diverged an estimated 824 million years ago. There is no traces of the C1orf21 gene in organisms that are traced beyond invertebrates, such as fungi, plants, protists, or single celled organisms.

Homologous domains

The domain of unknown function 4612 (DUF4612) was highly conserved in most orthologs.

Function

C1orf21 is most likely involved in the growth of cells, especially in the nucleus where replication of DNA occurs.

Clinical significance

Even though there is not a lot known about C1orf21, there have been some links with diseases. In many studies it has been found that there are links with cancer. Since C1orf21 is associated with cell proliferation, in another study by Sooda et al. there was an interest in the transcript map of the HPC1 locus, to help them identify the susceptibility genes involved in prostate cancer and jaw tumor.  It was seen that overall there are several studies where C1orf21 has been studied on role it plays in cancer for different body areas among many other genes. It was also found that there is a large correlation with affects on keratinocytes since C1orf21 plays a role in ZNF750 silencing.

References

References

1. (Apr 2001). "Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus". Genomics.
2. "Entrez Gene: C1orf21 chromosome 1 open reading frame 21".
3. "Expression of C1orf21 in cancer - Summary - The Human Protein Atlas".
4. "Protein BLAST: search protein databases using a protein query".
5. "C1orf21 Gene - GeneCards | CA021 Protein | CA021 Antibody".
6. "Genomatix - NGS Data Analysis & Personalized Medicine".
7. "PSORT II Prediction".
8. "DisEMBL 1.5 - Predictors of intrinsic protein disorder".
9. "NetOGlyc 4.0 Server - prediction results".
10. "NetPhos 3.1 Server - prediction results".
11. "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs".
12. "Multiple Sequence Alignment - CLUSTALW".
13. "TimeTree :: The Timescale of Life".
14. "BLAST: Basic Local Alignment Search Tool".