C3orf70

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AliasesC3orf70, chromosome 3 open reading frame 70
End185,153,060 bp[1]
C3orf70
Identifiers
AliasesC3orf70, chromosome 3 open reading frame 70
External IDsMGI: 1919440; HomoloGene: 78167; GeneCards: C3orf70; OMA:C3orf70 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001025266

NM_001001881

RefSeq (protein)

NP_001020437

NP_001001881

Location (UCSC)Chr 3: 185.08 – 185.15 MbChr 16: 21.47 – 21.51 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] C3orf70 can be identified with known aliases: Chromosome 3 Open Reading Frame 70, AK091454, UPF0524, and LOC285382.[5][6]

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].[5] A single 5’ cap and three possible 3’ polyadenylation signals have been identified.[5]

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

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

References

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