C6orf163

Last updated
C6orf163
Identifiers
Aliases C6orf163 , chromosome 6 open reading frame 163
External IDs MGI: 2684982 HomoloGene: 79759 GeneCards: C6orf163
Orthologs
SpeciesHumanMouse
Entrez

206412

214568

Ensembl

ENSG00000203872

ENSMUSG00000071015

UniProt

Q5TEZ5

Q3V037

RefSeq (mRNA)

NM_001010868

NM_001033255

RefSeq (protein)

NP_001010868

NP_001028427

Location (UCSC) Chr 6: 87.34 – 87.37 Mb Chr 4: 34.74 – 34.76 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

C6orf163 is a human protein encoded by the C6orf163 gene.

Contents

Gene

C6orf163 and nearby genes on chromosome 6. C6orf163 gene neighborhood.gif
C6orf163 and nearby genes on chromosome 6.

C6orf163 is a 20.6 kb gene encoded on the plus strand of chromosome 6 (6q15). C6orf163 is predicted to be part of a readthrough locus with its neighboring genes on the plus strand, SMIM8 (small integral membrane protein 8, also known as C6orf162), LINC01590 (long intergenic non-coding RNA 1590), and CFAP206 (cilia and flagella associated protein 206). [5]

Transcript

C6orf163 has been observed to be near-ubiquitously expressed at low levels in RNA-seq datasets. It is expressed most highly in the testes. [5] There are 4 isoforms of C6orf163, the most common of which has 5 exons. The splice variants differ by truncation on the 5' end. [6] An additional unspliced mRNA variant has been identified, but it does not appear to code for a protein. [6]

Throughout early development, C6orf163 is expressed at moderate levels in many tissues. Its expression is highest at 10 weeks gestational time and decreases as development progresses. [7]

Protein

Predicted structure of human c6orf163 from Alphafold C6orf163 alphafold.png
Predicted structure of human c6orf163 from Alphafold

The human C6orf163 protein is 329 amino acids long and has a molecular weight of 38 kDa. [8] Its predicted isoelectric point is 6.49. [9] According to the structural prediction from Alphafold, [10] it mainly consists of a long alpha helical region, which is a relatively rare structure in human proteins. [11] The long alpha helical structure is well conserved among orthologs.

C6orf163 contains a predicted leucine zipper motif from amino acids 247 to 269. This motif is typically involved in DNA binding, and is commonly found in transcription factors and other regulatory proteins. Leucine zippers form dimers to bind DNA, so the presence of this motif suggests that C6orf163 may exist as a dimer.

Alphafold structure predictions for selected orthologs show structural conservation. From left to right: Pseudonaja textilis (Eastern brown snake), Zalophus californianus (California sealion), and Egretta garzetta (Little egret). Alphafold structurre predictions for c6orf163 orthologs.png
Alphafold structure predictions for selected orthologs show structural conservation. From left to right: Pseudonaja textilis (Eastern brown snake), Zalophus californianus (California sealion), and Egretta garzetta (Little egret).

C6orf163 has been experimentally found to undergo phosphorylation at 7 different residues and ubiquitination at 1 residue. [12] [13] Additionally, it has been computationally predicted to undergo sumoylation, [14] lycine acetylation, [15] and mucin-type O-GlcNac glycosylation. [16]

C6orf163 has been found to interact with the protein DRC6 [17] (Dynein regulatory complex subunit 6, also known as F-box and leucine rich repeat protein 13), which is a ubiquitin ligase that forms part of the SCF-type E3 ubiquitin ligase complex. DRC6 has been found to be involved in regulation of ciliary and flagellar motility. [18]

C6orf163 has a nuclear localization signal from amino acids 310 to 316. Antibody staining has shown C6orf163 to be localized to the nucleus and cytoplasm. [19] [20]

Evolution

Conceptual translation of C6orf163 showing locations of notable motifs and conserved residues. C6orf163 conceptual translation.pdf
Conceptual translation of C6orf163 showing locations of notable motifs and conserved residues.

The C6orf163 protein is highly conserved among animals. Orthologs of C6orf163 have been identified in mammals, birds, reptiles, amphibians, fish, and some invertebrates including mollusks, echinoderms, and lancelets. The most distant c6orf163 ortholog identified is in the Japanese mud snail, Batillaria attramentaria . This ortholog has 23% sequence identity with the human protein. [21]

Homo sapiens C6orf163 has no known paralogs in humans.

Selected C6orf163 orthologs
Genus and speciesCommon nameAccession numberLength (aa)Sequence identity (%)Date of divergence (MYA)
Homo sapiens humanNP_001010868.23281000
Mus musculus mouseNP_001028427.13287487
Egretta garzetta little egretXP_009647262.233047319
Crocodylus porosus saltwater crocodileXP_019393256.135043319
Geotrypetes seraphini gaboon caecilianXP_033792248.131333353
Scyliorhinus canicula small-spotted catsharkXP_038654713.133027464
Branchiostoma floridae Florida lanceletXP_035665671.129729556
Batillaria attramentaria Japanese mud snailKAG5690851.127823680

Clinical significance

A genome-wide association study analyzing genetic predictors of long-term treatment outcome for bipolar disorder showed that SNPs near C6orf163 were associated with the total number of manic and depressive episodes during follow up treatment and the number of depressive episodes during follow up, suggesting that C6orf163 may be involved in susceptibility to bipolar disorder. [22]

Related Research Articles

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<span class="mw-page-title-main">C16orf82</span> Protein-coding gene in the species Homo sapiens

C16orf82 is a protein that, in humans, is encoded by the C16orf82 gene. C16orf82 encodes a 2285 nucleotide mRNA transcript which is translated into a 154 amino acid protein using a non-AUG (CUG) start codon. The gene has been shown to be largely expressed in the testis, tibial nerve, and the pituitary gland, although expression has been seen throughout a majority of tissue types. The function of C16orf82 is not fully understood by the scientific community.

<span class="mw-page-title-main">C1orf112</span> Protein-coding gene in the species Homo sapiens

Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence.

<span class="mw-page-title-main">C19orf44</span> Mammalian protein found in Homo sapiens

Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.

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

Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.

<span class="mw-page-title-main">C7orf50</span> Mammalian protein found in Homo sapiens

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<span class="mw-page-title-main">LSMEM2</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

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<span class="mw-page-title-main">FAM98C</span> Gene

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<span class="mw-page-title-main">C4orf19</span> Human C4orf19 gene

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<span class="mw-page-title-main">TEDDM1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TMEM269</span> TMEM269 Protein

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<span class="mw-page-title-main">Chromosome 12 open reading frame 71</span> Protein encoded in humans by c12orf71 gene

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<span class="mw-page-title-main">C13orf46</span> C13of46 Gene and Protein

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<span class="mw-page-title-main">LRRC74A</span> Protein-coding gene

Leucine-rich repeat-containing protein 74A (LRRC74A), is a protein encoded by the LRRC74A gene. The protein LRRC74A is localized in the cytoplasm. It has a calculated molecular weight of approximately 55 kDa. The LRRC74A protein is nominally expressed in the testis, salivary gland, and pancreas.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203872 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000071015 - 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. 1 2 "C6orf163 chromosome 6 open reading frame 163 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-12-15.
  6. 1 2 "AceView: Gene:C6orf163, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView". www.ncbi.nlm.nih.gov. Retrieved 2022-10-19.
  7. ↑ Szabo L, Morey R, Palpant NJ, Wang PL, Afari N, Jiang C, et al. (June 2015). "Statistically based splicing detection reveals neural enrichment and tissue-specific induction of circular RNA during human fetal development". Genome Biology. 16 (1): 126. doi: 10.1186/s13059-015-0690-5 . PMC   4506483 . PMID   26076956.
  8. ↑ "UniProt - Uncharacterized protein C6orf163". www.uniprot.org. Retrieved 2022-12-15.
  9. ↑ "Expasy - Compute pI/Mw tool". web.expasy.org. Retrieved 2022-12-15.
  10. ↑ Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, et al. (August 2021). "Highly accurate protein structure prediction with AlphaFold". Nature. 596 (7873): 583–589. Bibcode:2021Natur.596..583J. doi:10.1038/s41586-021-03819-2. PMC   8371605 . PMID   34265844. S2CID   235959867.
  11. ↑ Peckham M, Knight PJ (2009-06-23). "When a predicted coiled coil is really a single α-helix, in myosins and other proteins" . Soft Matter. 5 (13): 2493–2503. doi:10.1039/B822339D. ISSN   1744-6848.
  12. ↑ "C6orf163 (human)". www.phosphosite.org. Retrieved 2022-12-07.
  13. ↑ Mertins P, Yang F, Liu T, Mani DR, Petyuk VA, Gillette MA, et al. (July 2014). "Ischemia in tumors induces early and sustained phosphorylation changes in stress kinase pathways but does not affect global protein levels". Molecular & Cellular Proteomics. 13 (7): 1690–1704. doi:10.1074/mcp.M113.036392. PMC   4083109 . PMID   24719451.
  14. ↑ Zhao Q, Xie Y, Zheng Y, Jiang S, Liu W, Mu W, et al. (July 2014). "GPS-SUMO: a tool for the prediction of sumoylation sites and SUMO-interaction motifs". Nucleic Acids Research. 42 (Web Server issue): W325–W330. doi:10.1093/nar/gku383. PMC   4086084 . PMID   24880689.
  15. ↑ Deng W, Wang C, Zhang Y, Xu Y, Zhang S, Liu Z, Xue Y (December 2016). "GPS-PAIL: prediction of lysine acetyltransferase-specific modification sites from protein sequences". Scientific Reports. 6 (1): 39787. Bibcode:2016NatSR...639787D. doi:10.1038/srep39787. PMC   5177928 . PMID   28004786.
  16. ↑ Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, et al. (May 2013). "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology". The EMBO Journal. 32 (10): 1478–1488. doi:10.1038/emboj.2013.79. PMC   3655468 . PMID   23584533.
  17. ↑ Fung E, Richter C, Yang HB, Schäffer I, Fischer R, Kessler BM, et al. (March 2018). "FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration". EMBO Reports. 19 (3). doi:10.15252/embr.201744799. PMC   5836097 . PMID   29348145.
  18. ↑ "UniProt - Q8NEE6 · DRC6_HUMAN". www.uniprot.org. Retrieved 2022-12-07.
  19. ↑ "C6orf163 Polyclonal Antibody (PA5-62706)". www.thermofisher.com. Retrieved 2022-12-07.
  20. ↑ "Subcellular - C6orf163 - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-12-07.
  21. ↑ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2022-12-15.
  22. ↑ Fabbri C, Serretti A (February 2016). "Genetics of long-term treatment outcome in bipolar disorder". Progress in Neuro-Psychopharmacology & Biological Psychiatry. 65: 17–24. doi:10.1016/j.pnpbp.2015.08.008. PMID   26297903. S2CID   41881629.
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