C3orf70

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C3orf70 also known as Chromosome 3 Open Reading Frame 70, is a 250aa protein in humans that is encoded by the C3orf70 gene. The protein encoded is predicted to be a nuclear protein; however, its exact function is currently unknown. [1] C3orf70 can be identified with known aliases: Chromosome 3 Open Reading Frame 70, AK091454, UPF0524, and LOC285382. [1] [2]

Contents

C3orf70
Identifiers
Aliases C3orf70 , chromosome 3 open reading frame 70
External IDs MGI: 1919440 HomoloGene: 78167 GeneCards: C3orf70
Orthologs
SpeciesHumanMouse
Entrez

285382

72190

Ensembl

ENSG00000187068

ENSMUSG00000043391

UniProt

A6NLC5

Q6GQU0

RefSeq (mRNA)

NM_001025266

NM_001001881

RefSeq (protein)

NP_001020437

NP_001001881

Location (UCSC) Chr 3: 185.08 – 185.15 Mb Chr 16: 21.47 – 21.51 Mb
PubMed search [5] [6]
Wikidata
View/Edit Human View/Edit Mouse

Gene

In humans, C3orf70 is located on the reverse strand of Chromosome 3 at 3q27.2 (see Figure 1). [7] This identifies its location starting 184,795,838 base pairs and ending 184,870,802 base pairs from PTER, the terminus of the short arm, on chromosome 3. C3orf70 spans 74,964 bases containing two exons and two introns.

mRNA

The transcribed mRNA is a 5,901 base pair transcript. C3orf70 consists of one known splice variant with two exons of 388 base pairs and 5,512 base pairs respectively (see Figure 2); location of junction occurs at 67aa[C]. [1] A single 5’ cap and three possible 3’ polyadenylation signals have been identified. [1]

Protein

Composition

The translated protein is a 250 amino acid product. The precursor protein has been predicted with a molecular weight of 27.8kdal and an isoelectric point of 4.67. [8] With 33 serines and 8 glycines, the C3orf70 protein is both Serine rich and Glycine poor. [8]

Domains

C3orf70 protein has no known signal peptides or domains.

Homology

C3orf70 has no known paralogs in humans; however C3orf70 has conserved homologs, see Figure 3. Highly conserved across species excluding invertebrates, plants, fungi, and bacteria, C3orf70 shows a moderate rate of evolution, see Figure 4 and 5. [9]

Regulation

Transcription

Promoter

There is only one known promoter predicted by Genomatix for the C3orf70 protein located on the minus strand of chromosome 3 at location 184870702-184871302bp, therefore identified as 600bp in length. [10] High mammalian conservation was observed for the identified promoter sequence.

Transcription factors

Figure 6: Generated list of a selection of transcription factor binding sites in the C3orf70 promoter Transcription Factor Binding Sites in C3orf70 Promoter.png
Figure 6: Generated list of a selection of transcription factor binding sites in the C3orf70 promoter

Through the use of Genomatix, a table was generated of the top 20 transcription factors and their binding sites in the C3orf70 promoter (see Figure 6). [10]

Translation

Post-translational modifications

Utilizing NetPhos, a total of 25 phosphorylation sites have been predicted (20 Serines, 3 Threonines, and 2 Tyrosines) which occur throughout the protein indicating an intracellular localization. [11] Figure 7 pinpoints the location of the 25 potential phosphorylation sites. Additionally, two N-myrisolation sites were predicted at amino acid position 40-45 and 210-215 indicating a possible N-terminus and C-terminus membrane anchor region. [12] There are also 28 potential missense mutations in the human C3orf70. [13]

Subcellular localization

PSORT II indicates the subcellular localization of C3orf70 is in the nucleus. [14] In addition to this, following SDSC's Biology Workbench's SAPS kNN-Prediction, the C3orf70 protein for humans has a 60.9% likelihood to end up in the nuclear region of a cell, as determined by the amino acid make-up of C3orf70. [8] Homologs including chimp, mouse, alligator, and zebrafish conclude the same nuclear region with a >60% likelihood. [14] A nuclear localization site has not been identified in the C3orf70 sequence.

Expression

From Unigene's EST cDNA tissue abundance display (see Figure 8), C3orf70 is non-ubiquitously expressed and has relatively low expression levels with slightly higher expression levels seen in the brain. [15] Also, microarray data profile GDS426 (see Figure 9) showing the expression of C3orf70 across normal tissues displays a notably high presence in the brain, spinal cord, and prostate tissue. [16]

Function and further reading

The function of C3orf70 is unknown. It is suggested to be a nuclear protein that plays a role in neurological development. Additional avenues of research pertaining to the C3orf70 gene include:

There is a patent that identified genes associated with midbrain dopamine neurons for engraftment by looking at the differentiation of hESC and/or hiPSC in floor plate midbrain progenitor cells. C3orf70 was found to have a fold-change of 2.45, which was not determined significant in experimentation [17]

A publication was discovered through multiple sources that linked the C3orf70 gene to a “Genome-wide association study of major depressive disorder”. [18]

A microdeletion has been identified from 3q26.33-3q27.2. [19] Mandrille et al. associates this discovered microdeletion with a possible clinical syndrome characterized by clinical features related to brain development.

Related Research Articles

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<span class="mw-page-title-main">C1orf21</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CXorf66</span> Human protein

CXorf66 also known as Chromosome X Open Reading Frame 66, is a 361aa protein in humans that is encoded by the CXorf66 gene. The protein encoded is predicted to be a type 1 transmembrane protein; however, its exact function is currently unknown. CXorf66 has one alias: RP11-35F15.2.

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<span class="mw-page-title-main">C2orf73</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C21orf58</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C4orf51</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">SMCO3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C1orf185</span> Protein-coding gene in the species Homo sapiens

Chromosome 1 open reading frame 185, also known as C1orf185, is a protein that in humans is encoded by the C1orf185 gene. In humans, C1orf185 is a lowly expressed protein that has been found to be occasionally expressed in the circulatory system.

<span class="mw-page-title-main">C5orf46</span> Protein-coding gene in the species Homo sapiens

C5orf46 is a protein coding gene located on chromosome 5 in humans. It is also known as sssp1, or skin and saliva secreted protein 1. There are two known isoforms known in humans, with isoform 2 being the longer of the two. The protein encoded is predicted to have one transmembrane domain, and has a predicted molecular weight of 9,692 Da, and a basal isoelectric point of 4.67.

<span class="mw-page-title-main">C16orf90</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">C9orf85</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C6orf136</span> Protein-coding gene in the species Homo sapiens

C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.

<span class="mw-page-title-main">CCDC190</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C3orf38</span> An article about the uncharacterized gene C3orf38.

Chromosome 3 open reading frame 38 (C3orf38) is a protein which in humans is encoded by the C3orf38 gene.

References

  1. 1 2 3 4 NCBI AceView. "Homo sapiens gene C3orf70, encoding chromosome 3 open reading frame 70" . Retrieved 2015-04-10.
  2. ↑ NCBI. "C3orf70 chromosome 3 open reading frame 70 [ Homo sapiens (human) ]" . Retrieved 2015-04-10.
  3. 1 2 3 GRCh38: Ensembl release 89: ENSG00000187068 - Ensembl, May 2017
  4. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000043391 - Ensembl, May 2017
  5. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  6. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  7. ↑ "NCBI C3orf70 protein". Conserved Domain Database. National Center for Biotechnology Information. Retrieved 2015-04-18.
  8. 1 2 3 Department of Bioengineering. "SDSC Biology Workbench". University of California, San Diego. Retrieved 2015-04-18.
  9. ↑ "BLAST: Basic Local Alignment Search Tool". Conserved Domain Database. National Center for Biotechnology Information. Retrieved 2015-04-18.
  10. 1 2 Genomatix Software. "Genomatix ElDorado" . Retrieved 2015-04-18.
  11. ↑ Blom, N.; Gammeltoft, S.; Brunak, S. (1999). "Sequence- and structure-based prediction of eukaryotic protein phosphorylation sites". Journal of Molecular Biology. 294 (5): 1351–62. doi:10.1006/jmbi.1999.3310. PMID   10600390 . Retrieved 2015-04-19.
  12. ↑ Sigrist CJ, Cerutti L, de Castro E, Langendijk-Genevaux PS, Bulliard V, Bairoch A, Hulo N. "a protein domain database for functional characterization and annotation". Nucleic Acids Res. Retrieved 2015-04-19.
  13. ↑ "dbSNP". Conserved Domain Database. National Center for Biotechnology Information. Retrieved 2015-03-11.
  14. 1 2 Paul Horton. "PSORT II". Psort.hgc.jp. Retrieved 2015-04-19.
  15. ↑ "Unigene". Conserved Domain Database. National Center for Biotechnology Information. Retrieved 2015-04-19.
  16. ↑ "C3orf70 –Normal human tissue expression profiling". NCBI GEO Profile. National Center for Biotechnology Information. Retrieved 2015-04-19.
  17. ↑ Lorenz Studer; Jae-won Shim; Sonja Kriks. "Midbrain Dopamine (DA) Neurons for Engraftment" . Retrieved 2015-04-18.
  18. ↑ Wray NR, Pergadia ML, Blackwood DH, Penninx BW, Gordon SD, Nyholt DR, Ripke S, MacIntyre DJ, McGhee KA, Maclean AW, Smit JH, Hottenga JJ, Willemsen G, Middeldorp CM, de Geus EJ, Lewis CM, McGuffin P, Hickie IB, van den Oord EJ, Liu JZ, Macgregor S, McEvoy BP, Byrne EM, Medland SE, Statham DJ, Henders AK, Heath AC, Montgomery GW, Martin NG, Boomsma DI, Madden PA, Sullivan PF (2012). "Genome-wide association study of major depressive disorder: new results, meta-analysis, and lessons learned" (PDF). Mol Psychiatry. Molecular Psychiatry. 17 (1): 36–48. doi:10.1038/mp.2010.109. PMC   3252611 . PMID   21042317.
  19. ↑ Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F (2014). "3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?". Eur J Med Genet. European Journal of Medical Genetics. 57 (2–3): 76–80. doi:10.1016/j.ejmg.2013.12.007. PMID   24462885.
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