Uncharacterized protein C15orf32

Last updated
C15orf32
Identifiers
Aliases C15orf32 , chromosome 15 open reading frame 32, chromosome 15 putative open reading frame 32
External IDs HomoloGene: 89189 GeneCards: C15orf32
Orthologs
SpeciesHumanMouse
Entrez

145858

n/a

Ensembl

ENSG00000183643

n/a

UniProt

Q32M92

n/a

RefSeq (mRNA)

NM_001301106
NM_153040

n/a

RefSeq (protein)

NP_001288035
NP_694585

n/a

Location (UCSC) Chr 15: 92.47 – 92.5 Mb n/a
PubMed search [2] n/a
Wikidata
View/Edit Human

Uncharacterized Protein C15orf32 is a protein which in humans is encoded by the C15orf32 gene and is located on chromosome 15, location 15q26.1. [3] Variants of C15orf32 have been linked to bipolar disorder, [4] [5] alcohol use disorder, [6] and acute myeloid leukemia. [7]

Contents

Location of C15orf32 on chromosome 15 C15orf32 location.png
Location of C15orf32 on chromosome 15

Gene

C15orf32, which stands for chromosome 15 open reading frame 32, is a gene on the plus strand of chromosome 15, on the cytogenetic band 15q26.1. C15orf32 is 29,464 bases long; on Genome Reference Consortium Human Build 38, it spans bases 92,471,654-92,501,117. It contains 3 exons. [3]

Transcripts

Two isoforms of C15orf32 exist. The longer transcript, known as transcript variant 2 on NCBI, is 1,764 bases long. [8] The other is transcript 1 and is 1,726 bases long. [9]

Chou-Fasman secondary structure prediction for C15orf32 C15orf32 Chou Fasman.png
Chou–Fasman secondary structure prediction for C15orf32

Proteins

The transcript variant 2 of the C15orf32 gene encodes a 178 amino acid protein and has a molecular mass of 20,262 Da. Its basal isoelectric point is 9.34. [11] Transcript variant 1 is missing amino acids 166–178. [3] There is significantly large spacing between the glutamic acid residues at locations 12 and 23. [12]

Structure

Tertiary structure predicted by I-TASSER for C15orf32 with highest confidence C15orf32 3d.jpg
Tertiary structure predicted by I-TASSER for C15orf32 with highest confidence

A transmembrane segment is predicted between amino acids 51 and 71 by Phobius [14] and amino acids 57 and 71 by SAPS. [12] The N-terminus is predicted to be outside of the cytoplasm, and the C-terminus within the cytoplasm. [14] The Chou–Fasman algorithm predicts a beta sheet in this region, as well as much of region between amino acids 114 and 147. [10] I-TASSER was used to predict the tertiary structure. [13] The top model predicted eight alpha helices, including one between amino acids 51 and 71 concurrent with the transmembrane segment predicted earlier, although this structure had low confidence.

Regulation

Gene level

The promoter region of C15orf32 is predicted to span base pairs 92,470,677-92,471,777 according to Gene2Promoter tool by Genomatix. [15] The most commonly predicted transcription factor families by the MatInspector tool from Genomatix within this promoter region were SOX, nuclear receptor subfamily 2, and retinoid X receptor. [15] Transcription factor binding sites that have been determined experimentally include STAT1, MAFK, and JUND and are located within the second intron. [16] C15orf32 is expressed most notably in testes, brain, heart, and early in the development of fetuses, although expression is very low. [17] Exposure to some compounds such as bromelain, Bortezomib, estrogen, and 4-hydroxytamoxifen lead to increase in C15orf32 expression in breast cancer cells. [18] [19] [20]

Possible secondary structures of the 5' and 3' UTR C15orf32 mRNA, predicted by mfold C15orf32 UTR mRNA.jpg
Possible secondary structures of the 5' and 3' UTR C15orf32 mRNA, predicted by mfold

Transcript level

Possible secondary structures of the 5' and 3' untranslated region in C15orf32 mRNA is given to the left and was predicted by mfold. [21] It is mostly linear, with a number of small stem-loops. According to TargetScan, sites targeted by miRNA families miR-193a-5p and miR-365-3p within the 3' UTR are broadly conserved among vertebrates. [22]

Protein level

Immunohistochemical staining shows that C15orf32 is localized within cells to the cytoplasm and membranes, including the nucleus. [23] Both PSORTII and DeepLoc strongly predict localization to the nucleus. [24] [25] Thr41 has been shown to be phosphorylated post-translation [11] 26 other potential phosphorylation sites were predicted using NetPhos, with the most likely phosphorylation sites being 6S by PKC, 32T by PKG, 83T by PKC, 89S by PKC, and 162S by PKA. [26] A sumoylation site is predicted at amino acids 107–110. [27] 11 mucin type GalNAc O-glycosylation were predicted using NetOGlyc, 9 of which occurred in the first 50 base pairs. [28]

Interactions

Experimental evidence shows potential interaction between C15orf32 and PKD2, ALG9, DISP1, NPC1, FZD2, FAM69A, ATP6V1G2, ASIC1, DPY19L4, SPPL2B, and HGSNAT. [29]

Clinical significance

Variants of C15orf32 has been linked to several traits through genome wide association studies. The rs8040009 SNP in the 3’ UTR had a strong association with bipolar I disorder in a population of Han Chinese. [4] Three SNPs within C15orf32, including rs1455773 in exon 1 which causes a missense mutation from alanine to threonine at position 17, [30] were also associated with bipolar disorder in an Australian cohort. [5] This SNP was also linked to alcohol use disorder and heaviness of drinking. [6] The rs1455774 SNP, located in the 5’ UTR, is located within the target sites of miRNA has-miR-539 and has-let-7i* which affects the expression of these miRNAs, which may increase breast cancer susceptibility. [31] The rs11635085 SNP was linked to increased antibody IgG levels after exposure to casein, a dietary antigen, in Mexican Americans. [32] The rs1455782 SNP was linked to decreased forced vital capacity, which is a measure of pulmonary function. [33] The rs12148722 SNP was mildly associated with velopharyngeal dysfunction. [34] A haplotype block within C15orf32 was associated with acute myeloid leukemia. [7] A deletion in 15q26.1 including genes ST8SIA2, C15orf32, and FAM174B was found in a patient with epilepsy and autism spectrum disorder. [35]

Homology

Homologs of C15orf32 have been described in 39 other mammals. [36] No known orthologs exist outside of mammals.

Scientific nameCommon nameOrderDate of divergence (MYA, estimated)Sequence IDLength% Identity% Similarity
Pan paniscus BonoboPrimates6.7XP_003816836.1178100.00100
Colobus angolensis palliatus Tanzanian black-and-white colobusPrimates29.44XP_011802791.116581.2183.03
Cebus capucinus imitator Panamanian white-faced capuchinPrimates43.2XP_017372471.115863.9272.78
Marmota flaviventris Yellow-bellied marmotRodentia90XP_027811208.117153.8061.99
Cavia porcellus Guinea pigRodentia90XP_005008701.19150.5563.74
Urocitellus parryii Arctic ground squirrelRodentia90XP_026249828.116949.7059.76
Heterocephalus glaber Naked mole-ratRodentia90XP_021120379.115747.7756.69
Octodon degus Common deguRodentia90XP_012369204.111338.9454.87
Ceratotherium simum simum Southern white rhinocerosPerissodactyla96XP_014644154.110157.4372.28
Tursiops truncatus Common bottlenose dolphinArtiodactyla96XP_019801175.112053.3367.5
Sus scrofa Wild boarArtiodactyla96XP_020955730.112152.0765.29
Balaenoptera acutorostrata scammoni North Pacific Minke whaleArtiodactyla96XP_028020695.116150.9362.73
Equus caballus HorsePerissodactyla96XP_023505656.117250.0061.63
Felis catus CatCarnivora96XP_006944424.18949.4458.43
Odobenus rosmarus divergens Pacific walrusCarnivora96XP_012420660.17746.7558.44
Lagenorhynchus obliquidens Pacific white-sided dolphinArtiodactyla96XP_026938944.118044.4455.56
Lipotes vexillifer BaijiArtiodactyla96XP_007472421.116543.6454.55
Panthera pardus LeopardCarnivora96XP_019315554.19943.4350.51
Orcinus orca Killer whaleArtiodactyla96XP_012389158.116243.2153.7
Canis lupus dingo DingoCarnivora96XP_025294087.114936.2444.3

Related Research Articles

<span class="mw-page-title-main">YIF1A</span> Protein-coding gene in the species Homo sapiens

Protein YIF1A is a Yip1 domain family proteins that in humans is encoded by the YIF1A gene.

<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.

LOC105377021 is a protein which in humans is encoded by the LOC105377021 gene. LOC105377021 exhibits expressional pathology related to breast cancer, specifically triple negative breast cancer. LOC105377021 contains a serine rich region in addition to predicted alpha helix motifs.

<span class="mw-page-title-main">C11orf86</span> Protein-coding gene in the species Homo sapiens

Chromosome 11 open reading frame 86, also known as C11orf86, is a protein-coding gene in humans. It encodes for a protein known as uncharacterized protein C11orf86, which is predicted to be a nuclear protein. The function of this protein is currently unknown.

Leukocyte Receptor Cluster Member 9 is an uncharacterized protein encoded by the LENG9 gene. In humans, LENG9 is predicted to play a role in fertility and reproductive disorders associated with female endometrium structures.

Chromosome 1 open reading frame 141, or C1orf141 is a protein which, in humans, is encoded by gene C1orf141. It is a precursor protein that becomes active after cleavage. The function is not yet well understood, but it is suggested to be active during development

<span class="mw-page-title-main">C22orf23</span> Protein-coding gene in the species Homo sapiens

C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.

<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">C1orf122</span> Protein-coding gene in the species Homo sapiens

C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.

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

C7orf50 is a gene in humans that encodes a protein known as C7orf50. This gene is ubiquitously expressed in the kidneys, brain, fat, prostate, spleen, among 22 other tissues and demonstrates low tissue specificity. C7orf50 is conserved in chimpanzees, Rhesus monkeys, dogs, cows, mice, rats, and chickens, along with 307 other organisms from mammals to fungi. This protein is predicted to be involved with the import of ribosomal proteins into the nucleus to be assembled into ribosomal subunits as a part of rRNA processing. Additionally, this gene is predicted to be a microRNA (miRNA) protein coding host gene, meaning that it may contain miRNA genes in its introns and/or exons.

<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">Fam89A</span> Human protein and gene

ProteinFAM89A is a protein which in humans is encoded by the FAM89A gene. It is also known as chromosome 1 open reading frame 153 (C1orf153). Highest FAM89A gene expression is observed in the placenta and adipose tissue. Though its function is largely unknown, FAM89A is found to be differentially expressed in response to interleukin exposure, and it is implicated in immune responses pathways and various pathologies such as atherosclerosis and glioma cell expression.

<span class="mw-page-title-main">LSMEM2</span> Protein-coding gene in the species Homo sapiens

Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.

<span class="mw-page-title-main">TMEM221</span> Protein

Transmembrane protein 221 (TMEM221) is a protein that in humans is encoded by the TMEM221 gene. The function of TMEM221 is currently not well understood.

TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.

C2orf74, also known as LOC339804, is a protein encoding gene located on the short arm of chromosome 2 near position 15 (2p15). Isoform 1 of the gene is 19,713 base pairs long. C2orf74 has orthologs in 135 different species, including primarily placental mammals and some marsupials.

<span class="mw-page-title-main">FAM214B</span> Protein-coding gene in the species Homo sapiens

The FAM214B, also known as protein family with sequence similarity 214, B (FAM214B) is a protein that, in humans, is encoded by the FAM214B gene located on the human chromosome 9. The protein has 538 amino acids. The gene contain 9 exon. There has been studies that there are low expression of this gene in patients with major depression disorder. In most organisms such as mammals, amphibians, reptiles, and birds, there are high levels of gene expression in the bone marrow and blood. For humans in fetal development, FAM214B is mostly expressed in the brains and bone marrow.

<span class="mw-page-title-main">TMEM212</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 212 is a protein that in humans is encoded by the TMEM212 gene. The protein consists of 5 transmembrane domains and localizes in the plasma membrane and endoplasmic reticulum. TMEM212 has orthologs in vertebrates but not invertebrates. TMEM212 has been associated with sporadic Parkinson's disease, facial processing, and adiposity in African Americans.

<span class="mw-page-title-main">C4orf36</span> Draft for page on C4orf36 gene/protein

C4orf36 is a protein that in humans is encoded by the c4orf36 gene.

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

Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183643 - Ensembl, May 2017
  2. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. 1 2 3 4 "C15orf32 Gene - GeneCards | C15orf32 RNA Gene". www.genecards.org. Retrieved 2020-03-02.
  4. 1 2 Lee MT, Chen CH, Lee CS, Chen CC, Chong MY, Ouyang WC, et al. (May 2011). "Genome-wide association study of bipolar I disorder in the Han Chinese population". Molecular Psychiatry. 16 (5): 548–56. doi:10.1038/mp.2010.43. PMID   20386566.
  5. 1 2 McAuley EZ, Scimone A, Tiwari Y, Agahi G, Mowry BJ, Holliday EG, et al. (2012-05-31). "Identification of sialyltransferase 8B as a generalized susceptibility gene for psychotic and mood disorders on chromosome 15q25-26". PLOS ONE. 7 (5): e38172. Bibcode:2012PLoSO...738172M. doi: 10.1371/journal.pone.0038172 . PMC   3364966 . PMID   22693595.
  6. 1 2 Heath AC, Whitfield JB, Martin NG, Pergadia ML, Goate AM, Lind PA, et al. (September 2011). "A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications". Biological Psychiatry. 70 (6): 513–8. doi:10.1016/j.biopsych.2011.02.028. PMC   3210694 . PMID   21529783.
  7. 1 2 Lv H, Zhang M, Shang Z, Li J, Zhang S, Lian D, Zhang R (January 2017). "Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia". Oncotarget. 8 (5): 7891–7899. doi:10.18632/oncotarget.13631. PMC   5352368 . PMID   27903959.
  8. ↑ "Homo sapiens chromosome 15 putative open reading frame 32 (C15orf32), transcript variant 2, long non-coding RNA". 2019-10-06.{{cite journal}}: Cite journal requires |journal= (help)
  9. ↑ "Homo sapiens chromosome 15 putative open reading frame 32 (C15orf32), transcript variant 1, long non-coding RNA". 2019-10-06.{{cite journal}}: Cite journal requires |journal= (help)
  10. 1 2 "CFSSP: Chou & Fasman Secondary Structure Prediction Server". www.biogem.org. Retrieved 2020-05-03.
  11. 1 2 "C15orf32 (human)". www.phosphosite.org. Retrieved 2020-03-02.
  12. 1 2 "SAPS < Sequence Statistics < EMBL-EBI". www.ebi.ac.uk. Retrieved 2020-05-03.
  13. 1 2 "I-TASSER server for protein structure and function prediction". zhanglab.ccmb.med.umich.edu. Retrieved 2020-05-03.
  14. 1 2 "Phobius". phobius.sbc.su.se. Retrieved 2020-05-03.
  15. 1 2 "Genomatix - NGS Data Analysis & Personalized Medicine". www.genomatix.de. Retrieved 2020-05-03.
  16. ↑ "ORegAnno Temporary Homepage". www.oreganno.org. Retrieved 2020-05-03.
  17. ↑ "C15orf32 Gene Expression - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-05-03.
  18. ↑ Fouz N, Amid A, Hashim YZ (August 2014). "Gene expression analysis in MCF-7 breast cancer cells treated with recombinant bromelain". Applied Biochemistry and Biotechnology. 173 (7): 1618–39. doi:10.1007/s12010-014-0947-6. PMID   24928548. S2CID   207356247.
  19. ↑ "GDS4089 / ILMN_1773848". www.ncbi.nlm.nih.gov. Retrieved 2020-05-03.
  20. ↑ "GDS4065 / 1553482_at". www.ncbi.nlm.nih.gov. Retrieved 2020-05-03.
  21. 1 2 "RNA Folding Form | mfold.rit.albany.edu". unafold.rna.albany.edu. Retrieved 2020-05-03.
  22. ↑ "TargetScanHuman 7.2". www.targetscan.org. Retrieved 2020-05-03.
  23. ↑ "Anti-C15orf32 antibody produced in rabbit HPA041883". Immunohistochemistry. Retrieved 2020-05-03.
  24. ↑ "PSORT II server - GenScript". www.genscript.com. Retrieved 2020-05-03.
  25. ↑ "DeepLoc - 1.0". DTU Health Tech.
  26. ↑ "NetPhos 3.1: Generic phosphorylation sites in eukaryotic proteins". healthtech.dtu.dk. Retrieved 2020-05-03.
  27. ↑ "SUMOplot™ Analysis Program | Abcepta". www.abcepta.com. Retrieved 2020-05-03.
  28. ↑ "NetOGlyc - 4.0". DTU Health Tech.
  29. ↑ "C15orf32 Result Summary | BioGRID". thebiogrid.org. Retrieved 2020-05-03.
  30. ↑ "UniProtKB/SwissProt variant VAR_050884". web.expasy.org. Retrieved 2020-03-02.
  31. ↑ Nicoloso MS, Sun H, Spizzo R, Kim H, Wickramasinghe P, Shimizu M, et al. (April 2010). "Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility". Cancer Research. 70 (7): 2789–98. doi:10.1158/0008-5472.CAN-09-3541. PMC   2853025 . PMID   20332227.
  32. ↑ Rubicz R, Yolken R, Alaedini A, Drigalenko E, Charlesworth JC, Carless MA, et al. (July 2014). "Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens". Genetic Epidemiology. 38 (5): 439–46. doi:10.1002/gepi.21817. PMC   4171053 . PMID   24962563.
  33. ↑ Wilk JB, Walter RE, Laramie JM, Gottlieb DJ, O'Connor GT (September 2007). "Framingham Heart Study genome-wide association: results for pulmonary function measures". BMC Medical Genetics. 8 Suppl 1 (1): S8. doi: 10.1186/1471-2350-8-S1-S8 . PMC   1995616 . PMID   17903307.
  34. ↑ Chernus J, Roosenboom J, Ford M, Lee MK, Emanuele B, Anderton J, et al. (May 2018). "GWAS reveals loci associated with velopharyngeal dysfunction". Scientific Reports. 8 (1): 8470. Bibcode:2018NatSR...8.8470C. doi:10.1038/s41598-018-26880-w. PMC   5981322 . PMID   29855589.
  35. ↑ Kamien B, Harraway J, Lundie B, Smallhorne L, Gibbs V, Heath A, Fullerton JM (March 2014). "Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy". American Journal of Medical Genetics. Part A. 164A (3): 782–8. doi:10.1002/ajmg.a.36345. PMID   24357335. S2CID   27921887.
  36. ↑ "HomoloGene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2020-03-02.
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.