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C1orf21
Identifiers
Aliases	C1orf21, PIG13, chromosome 1 open reading frame 21
External IDs	MGI: 1916649; HomoloGene: 12776; GeneCards: C1orf21; OMA:C1orf21 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q25.3 Start 184,387,029 bp End 184,629,019 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 G2 Start 151,728,154 bp End 151,965,876 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon gastrocnemius muscle muscle of thigh skin of abdomen ectocervix rectum skin of leg vagina tibia Skeletal muscle tissue of rectus abdominis Top expressed in genital tubercle tail of embryo otolith organ utricle transitional epithelium of urinary bladder ankle triceps brachii muscle vastus lateralis muscle soleus muscle muscle of thigh More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 81563 69399 Ensembl ENSG00000116667 ENSMUSG00000032666 UniProt Q9H246 Q8K207 RefSeq (mRNA) NM_030806 NM_197990 RefSeq (protein) NP_110433 NP_932107 Location (UCSC) Chr 1: 184.39 – 184.63 Mb Chr 1: 151.73 – 151.97 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Uncharacterized protein C1orf21, also known as Proliferation-Inducing Protein 13, is a protein that in humans is encoded by the C1orf21 gene. C1orf21 is an intracellular protein that flows between the nucleus and the cytoplasm in the cell. It has been linked with cell growth and reproduction and there has been strong links with various types of cancers. There are no paralogs for this gene, however, many conserved orthologs have been found in all invertebrates. C1orf21 has low to moderate level of expression in most tissues in humans, however, it has the most expression in the skin, lung and prostate.

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

1. ^ GRCh38: Ensembl release 89: ENSG00000116667 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000032666 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD (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. 73 (2): 211–222. doi:10.1006/geno.2001.6500. PMID 11318611.
6. "Entrez Gene: C1orf21 chromosome 1 open reading frame 21".
7. "Expression of C1orf21 in cancer - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2019-08-08.
8. "Protein BLAST: search protein databases using a protein query". blast.ncbi.nlm.nih.gov. Retrieved 2019-02-28.
9. "C1orf21 Gene - GeneCards | CA021 Protein | CA021 Antibody". www.genecards.org. Retrieved 2019-08-08.
10. "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Archived from the original on 2001-02-24. Retrieved 2019-08-08.
11. "PSORT II Prediction". psort.hgc.jp. Retrieved 2019-08-01.
12. "DisEMBL 1.5 - Predictors of intrinsic protein disorder". dis.embl.de. Retrieved 2019-08-01.
13. "NetOGlyc 4.0 Server - prediction results". www.cbs.dtu.dk. Retrieved 2019-08-04.
14. "NetPhos 3.1 Server - prediction results". www.cbs.dtu.dk. Retrieved 2019-08-04.
15. "GPS-SUMO: Prediction of SUMOylation Sites & SUMO-interaction Motifs". sumosp.biocuckoo.org. Archived from the original on 2018-05-06. Retrieved 2019-08-04.
16. "Multiple Sequence Alignment - CLUSTALW". www.genome.jp. Retrieved 2019-08-08.
17. "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2019-07-01.
18. "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2019-08-01.

External links

• Human C1orf21 genome location and C1orf21 gene details page in the UCSC Genome Browser.

Further reading

• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–321. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
• Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–954. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–358. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
• Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–113. doi:10.1006/abio.1996.0138. PMID 8619474.

• Genes on human chromosome 1
• Human proteins
• Genes on human chromosome 5