OSER1

Last updated
OSER1
Identifiers
Aliases OSER1 , C20orf111, HSPC207, Osr1, Perit1, dJ1183I21.1, oxidative stress responsive serine rich 1
External IDs MGI: 1913930 HomoloGene: 9521 GeneCards: OSER1
Orthologs
SpeciesHumanMouse
Entrez

51526

66680

Ensembl

ENSG00000132823

ENSMUSG00000035399

UniProt

Q9NX31

Q9D722

RefSeq (mRNA)

NM_016470

NM_025699

RefSeq (protein)

NP_057554

NP_079975

Location (UCSC) Chr 20: 44.2 – 44.21 Mb Chr 2: 163.25 – 163.27 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Chromosome 20 open reading frame 111, or C20orf111, is the hypothetical protein that in humans is encoded by the C20orf111 gene. [5] C20orf111 is also known as Perit1 (peroxide inducible transcript 1), HSPC207, and dJ1183I21.1. [6] It was originally located using genomic sequencing of chromosome 20. [7] The National Center for Biotechnology Information, or NCBI, [5] shows that it is located at q13.11 on chromosome 20, however the genome browser at the University of California-Santa Cruz (UCSC) website [8] shows that it is at location q13.12, and within a million base pairs of the adenosine deaminase locus. [9] It was also found to have an increase in expression in cells undergoing hydrogen peroxide(H
2O
2)-induced apoptosis. [10] After analyzing the amino acid content of C20orf111, it was found to be rich in serine residues.

Contents

Gene

C20orf111 a valid, protein coding gene that is found on the minus strand of chromosome 20 at q13.12 by searching the UCSC Genome Browser, [8] but q13.11 according to Refseq on NCBI. [5]


Gene neighborhood

A few of the known genes near C20orf111 are given in the box below with their known function.

GeneChromosomal LocationStrandFunction
Junctophilin 2 (JPH2) 20q13.12MinusHelp facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery. Loss of function leads to cardiac-specific JPH2 deficiency and results in lower cardiac contractility [11]
TOX high mobility group box family member 2 (Tox2) 20q13.12PlusShown to play a large role in transcription activation [12]
Adenosine deaminase (ADA) 20q13.12MinusEncodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins. [13]

Transcript

General properties

[14]

Transcript variants

Transcript Variants of C20orf111 Transcript Variants of C20orf111 according to AceView.png
Transcript Variants of C20orf111

10 splice isoforms that encode good proteins, altogether 8 different isoforms, 2 of which are complete isoforms. The image below shows the 10 isoforms that are predicted. [15] Of these 10 splice isoforms, 8 have varying peptide lengths, however all of these proteins are only hypothetical with no extensive research done on them. [15]

Transcription regulation

When looking at the predicted promoter sequence, [16] there are no RNA Polymerase II binding sites, however there is a binding site for core promoter element for TATA-less promoters. [17] In this same region of the promoter, there is also a TATA-binding factor sequence, which helps in the positioning of RNA polymerase II for transcription. [18]

Protein

General properties

[19]

Function

The function of C20orf111 is not well understood by the scientific community. It does contain a domain of unknown function, DUF776, which has a large segment that is conserved well conserved through Xenopus tropicalus. It is also shown to have an increase in expression in rat cardiomyocytes undergoing hydrogen peroxide induced apoptosis. [10]

Expression

When looking at the EST Profiles in humans, normal tissue (non-cancerous), expresses at a level of 82 transcripts per million. [21] C20orf111 has been shown to increase in expression in rat cardiac myocytes undergoing |H|2|O|2|-induced apoptosis, suggesting a role in cell death. [10] In bladder, cervical, head and neck, non-neoplasia, pancreatic, and prostate cancer cells, there are expression levels lower than normal.[ citation needed ]

Expression of Perit1 in cancerous cells according to NCBI Geo Profiles. Cancer EST Profile of Perit1.png
Expression of Perit1 in cancerous cells according to NCBI Geo Profiles.

Homology

C20orf111 gene has no clear paralogs in the human genome. However, it has many orthologs in other organisms, and is conserved highly in organisms such as Xenopus tropicalis and is semi-conserved in the proto-animal Trichoplax adherens at the C-terminus.

The following table presents a select number of the orthologs found. [22]

Scientific nameCommon NameAccession NumberSequence Length(aa)Percent IdentityPercent Similarity
Homo sapiens Human NP_057554.4 292--
Pan troglodytes Chimpanzee NP_001151026.1 29299.799
Ailuropoda melanoleuca Giant Panda XP_002917406 2929296
Equus caballus Horse XP_001503005.1 2929196
Mus musculus Mouse NP_079975 2918792
Ornithorhynchus anatinus Platypus XP_001513001 2936673
Gallus gallus Chicken NP_001025152 2946675
Xenopus tropicalis W.Clawed Frog NP_988917 2915869
Danio rerio Zebrafish XP_956651 3004559
Nasonia vitripennis Jewel Wasp XP_003424720 2715814
Drosophila melanogaster Fruit Fly NP_609391 2874718
Trichoplax adhaerens Trichoplax XP_002114376 2374613

Conservation

The image below is a multiple sequence alignment comparing the conservation of the C20orf111 protein amongst other organisms. The protein is highly conserved in the DUF776 region amongst vertebrates, and also at the C-terminus in eukaryotes.

MSA of the orthologs of C20orf111 protein C20orf111OrthologAlignment.png
MSA of the orthologs of C20orf111 protein

Predicted post-translational modification

C20orf111 protein schematic showing predicted secondary structure and post-translational modifications. Predicted secondary structure and post-translational modifications of C20orf111.png
C20orf111 protein schematic showing predicted secondary structure and post-translational modifications.

Using tools at ExPASy [23] the following are predicted post-translational modifications for C20orf111.

Predicted secondary structure

PELE (Protein Secondary Structure Prediction) was used to predict the secondary structure of C20orf111. There is little in the way of β-strand or α-helix secondary structure, but a large part of the protein appears to exist as random coils. This is shown on the image of the C20orf111 images to the right.

Related Research Articles

<span class="mw-page-title-main">C11orf49</span> Protein-coding gene in the species Homo sapiens

C11orf49 is a protein coding gene that in humans encodes for the C11orf49 protein. It is heavily expressed in brain tissue and peripheral blood mononuclear cells, with the latter being an important component of the immune system. It is predicted that the C11orf49 protein acts as a kinase, and has been shown to interact with HTT and APOE2.

<span class="mw-page-title-main">C20orf27</span> Protein-coding gene in the species Homo sapiens

UPF0687 protein C20orf27 is a protein that in humans is encoded by the C20orf27 gene. It is expressed in the majority of the human tissues. One study on this protein revealed its role in regulating cell cycle, apoptosis, and tumorigenesis via promoting the activation of NFĸB pathway.

<span class="mw-page-title-main">C11orf16</span> Protein-coding gene in the species Homo sapiens

Gene C11orf16, chromosome 11 open reading frame 16, is a protein in humans that is encoded by the C11orf16 gene. It has 7 exons, and the size of 467 amino acids.

<span class="mw-page-title-main">Autophagy-related protein 101</span> Protein-coding gene in the species Homo sapiens

Autophagy-related protein 101 also known as ATG101 is a protein that in humans is encoded by the C12orf44 gene.

<span class="mw-page-title-main">FAM43A</span> Protein-coding gene in the species Homo sapiens

The family with sequence similarity 43 member A (FAM43A) gene, also known as; GCO3P195887, GC03P194406, GC03P191784, and NM_153690.3, codes for a 423 bp protein that is conserved in primates, and orthologs have been found in vertebrate and invertebrate species. Three transcripts have been identified, two protein coding isoforms, and a non-coding transcript (cAug10). Molecular weight of 45.8 kdal in the unphosphorylated state and isoelectric point of 6.1.

<span class="mw-page-title-main">Interferon-inducible GTPase 5</span> Protein-coding gene in the species Homo sapiens

Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.

<span class="mw-page-title-main">KIAA1704</span> Protein-coding gene in the species Homo sapiens

KIAA1704, also known as LSR7, is a protein that in humans is encoded by the GPALPP1 gene. The function of KIAA1704 is not yet well understood. KIAA1704 contains one domain of unknown function, DUF3752. The protein contains a conserved, uncharged, repeated motif GPALPP(GF) near the N terminus and an unusual, conserved, mixed charge throughout. It is predicted to be localized to the nucleus.

<span class="mw-page-title-main">Tetratricopeptide repeat 39A</span> Protein-coding gene in the species Homo sapiens

Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene. TTC39A is also known as DEME-6, KIAA0452, and c1orf34. The function of TTC39A is currently not well understood. The main feature within tetratricopeptide repeat 39A is the domain of unknown function 3808 (DUF3808), spanning almost the entire protein. KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain.

<span class="mw-page-title-main">SHOC1</span> Protein-coding gene in the species Homo sapiens

Shortage In Chiasmata 1, also known as SHOC1, is a protein that in humans is encoded by the SHOC1 gene.

Uncharacterized protein Chromosome 16 Open Reading Frame 71 is a protein in humans, encoded by the C16orf71 gene. The gene is expressed in epithelial tissue of the respiratory system, adipose tissue, and the testes. Predicted associated biological processes of the gene include regulation of the cell cycle, cell proliferation, apoptosis, and cell differentiation in those tissue types. 1357 bp of the gene are antisense to spliced genes ZNF500 and ANKS3, indicating the possibility of regulated alternate expression.

<span class="mw-page-title-main">C1orf198</span> Protein-coding gene in the species Homo sapiens

Chromosome 1 open reading frame 198 (C1orf198) is a protein that in humans is encoded by the C1orf198 gene. This particular gene does not have any paralogs in Homo sapiens, but many orthologs have been found throughout the Eukarya domain. C1orf198 has high levels of expression in all tissues throughout the human body, but is most highly expressed in lung, brain, and spinal cord tissues. Its function is most likely involved in lung development and hypoxia-associated events in the mitochondria, which are major consumers of oxygen in cells and are severely affected by decreases in available cellular oxygen.

<span class="mw-page-title-main">TMEM155</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 155 is a protein that in humans is encoded by the TMEM155 gene. It is located on human chromosome 4, spanning 6,497 bases. It is also referred to as FLJ30834 and LOC132332. This protein is known to be expressed mainly in the brain, placenta, and lymph nodes and is conserved throughout most placental mammals. The function and structure of this protein is still not well understood, but its level of expression has been studied pertaining to various pathologies.

<span class="mw-page-title-main">WD Repeat and Coiled Coil Containing Protein</span> Protein-coding gene in humans

WD Repeat and Coiled-coiled containing protein (WDCP) is a protein which in humans is encoded by the WDCP gene. The function of the protein is not completely understood, but WDCP has been identified in a fusion protein with anaplastic lymphoma kinase found in colorectal cancer. WDCP has also been identified in the MRN complex, which processes double-stranded breaks in DNA.

<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">C17orf78</span> Mammalian protein found in Homo sapiens

Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.

<span class="mw-page-title-main">C14orf119</span> Protein-coding gene in the species Homo sapiens

C14orf119 is a protein that in humans is encoded by the c14orf119 gene. The c14orf119 protein is predicted to be localized in the nucleus. Additionally, c14orf119 expression is decreased in individuals with systemic lupus erythematosus (SLE) when compared with healthy individual and is increased in individuals with various types of lymphomas when compared to healthy individuals.

<span class="mw-page-title-main">C22orf31</span> Protein-coding gene in the species Homo sapiens

C22orf31 is a protein which in humans is encoded by the C22orf31 gene. The C22orf31 mRNA transcript has an upstream in-frame stop codon, while the protein has a domain of unknown function (DUF4662) spanning the majority of the protein-coding region. The protein has orthologs with high percent similarity in mammals. The most distant orthologs are found in species of bony fish, but C22orf31 is not found in any species of birds or amphibians.

<span class="mw-page-title-main">FAM155B</span> Protein-coding gene in humans

Family with Sequence Similarity 155 Member B is a protein in humans that is encoded by the FAM155B gene. It belongs to a family of proteins whose function is not yet well understood by the scientific community. It is a transmembrane protein that is highly expressed in the heart, thyroid, and brain.

<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">PANO1</span> Mammalian protein found in Homo sapiens

PANO1 is a protein which in humans is encoded by the PANO1 gene. PANO1 is an apoptosis inducing protein that is able to regulate the function of tumor suppressor. More specifically, P14ARF is a protein in which in humans is modulated by the PANO1 gene. P14ARF is known to function as a tumor suppressor. When PANO1 is highly expressed in the cells, it is able to modulate p14ARF by stabilizing it and protecting it from degradation. With a confidence level of 5 out of 5, PANO1 has been theorized to be expressed in the nucleolus of the cell. PANO1 is an intron-less gene. Intron-less genes only make up about 3% of the human genome. A functional analysis of these types of genes revealed that they often have tissue-specific expression in tissues such as the nervous system and testis. This kind of expression is commonly associated with neuropathies, disease, and cancer. The tissue types that PANO1 has the highest expression in, are the cerebellum regions of the brain as well as pituitary and testis tissues.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000132823 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035399 - 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 3 EntrezGene 51526: C20orf111 chromosome 20 open reading frame 111
  6. ↑ Genecards
  7. ↑ Deloukas P, Matthews LH, Ashurst J, et al. (2001). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. Bibcode:2001Natur.414..865D. doi: 10.1038/414865a . PMID   11780052.
  8. 1 2 UCSC Genome Search [ permanent dead link ]
  9. ↑ Shabtai F, Ben-Sasson E, Arieli S, Grinblat J (February 1993). "Chromosome 20 long arm deletion in an elderly malformed man". J. Med. Genet. 30 (2): 171–3. doi:10.1136/jmg.30.2.171. PMC   1016280 . PMID   8445626.
  10. 1 2 3 Clerk A, Kemp TJ, Zoumpoulidou G, Sugden PH (April 2007). "Cardiac myocyte gene expression profiling during H2O2-induced apoptosis". Physiol. Genomics. 29 (2): 118–27. CiteSeerX   10.1.1.335.3100 . doi:10.1152/physiolgenomics.00168.2006. PMID   17148688.
  11. ↑ Golini L, Chouabe C, Berthier C, Cusimano V, Fornaro M, Bonvallet R, Formoso L, Giacomello E, Jacquemond V, Sorrentino V (December 2011). "Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle". J. Biol. Chem. 286 (51): 43717–25. doi: 10.1074/jbc.M111.292755 . PMC   3243543 . PMID   22020936.
  12. ↑ Tessema M, Yingling CM, Grimes MJ, Thomas CL, Liu Y, Leng S, Joste N, Belinsky SA (2012). "Differential Epigenetic Regulation of TOX Subfamily High Mobility Group Box Genes in Lung and Breast Cancers". PLOS ONE. 7 (4): e34850. Bibcode:2012PLoSO...734850T. doi: 10.1371/journal.pone.0034850 . PMC   3319602 . PMID   22496870.
  13. ↑ Valerio D, Duyvesteyn MG, Dekker BM, Weeda G, Berkvens TM, van der Voorn L, van Ormondt H, van der Eb AJ (February 1985). "Adenosine deaminase: characterization and expression of a gene with a remarkable promoter". EMBO J. 4 (2): 437–43. doi:10.1002/j.1460-2075.1985.tb03648.x. PMC   554205 . PMID   3839456.
  14. ↑ NCBI (National Center for Biotechnology Information)
  15. 1 2 AceView
  16. ↑ Genomatix ElDorado
  17. ↑ Tokusumi Y, Ma Y, Song X, Jacobson RH, Takada S (March 2007). "The new core promoter element XCPE1 (X Core Promoter Element 1) directs activator-, mediator-, and TATA-binding protein-dependent but TFIID-independent RNA polymerase II transcription from TATA-less promoters". Mol. Cell. Biol. 27 (5): 1844–58. doi:10.1128/MCB.01363-06. PMC   1820453 . PMID   17210644.
  18. ↑ Wikipedia:TATA-binding Protein
  19. ↑ SDSC Biology Workbench 2.0
  20. ↑ "PSORTII Prediction".
  21. 1 2 "EST Profile - Hs.75798". UniGene. National Center for Biotechnology Information.
  22. ↑ NCBI BLAST: Basic Local Alignment Search Tool
  23. ↑ ExPASy Proteomics Server
  24. ↑ Chang WC, Lee TY, Shien DM, Hsu JB, Horng JT, Hsu PC, Wang TY, Huang HD, Pan RL (November 2009). "Incorporating support vector machine for identifying protein tyrosine sulfation sites". J Comput Chem. 30 (15): 2526–37. doi:10.1002/jcc.21258. PMID   19373826. S2CID   16311112.
  25. ↑ Blom N, Gammeltoft S, Brunak S (December 1999). "Sequence and structure-based prediction of eukaryotic protein phosphorylation sites". J. Mol. Biol. 294 (5): 1351–62. doi:10.1006/jmbi.1999.3310. PMID   10600390.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.