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LOC100287387

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LOC100287387 is a protein that in humans is encoded by the gene LOC100287387. The function of the protein is not yet understood in the scientific community. The gene is located on the q arm of chromosome 2.[1]

Gene

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Chromosome 2 of the Human Genome

The human LOC100287387 gene is located on the minus strand of the q arm of chromosome 2 at 2q37.3.[1] It overlaps the TWIST2 gene family on the plus strand of chromosome 2.[2] The gene is formed by three exons, with two introns near the start codon.[2]

mRNA

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There are no alternative splicings of the LOC100287387 gene (isoforms).[2]

Protein

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LOC100287387 is located at 2q37.3
Human LOC100287387 predicted protein modification sites from MotifScan.[3] Diagram created using IBS1.0.3[4] from GPS. "CK2P", "CampP", and "PKC" are phosphorylation sites. "M" are myristoylation sites. "SUMO" is a sumoylation site.

The LOC100287387 protein is formed by a 423 amino acid peptide sequence. The molecular mass is 44.4 kdal,[5] and the isoelectric point is 10.77.[6] There is a G-patch domain and a short domain of unknown function within the peptide sequence. There are many predicted modification sites within the amino acid sequence including cAMP- dependent phosphorylation sites (CampP), casein kinase 2 (CK2), and protein kinase C (PKC) phosphorylation sites, O-linked beta-N-acetylglucosamine sites, and a sumoylation site.[3][7] The predicted secondary structure of the protein includes 8 short alpha-helices (15.6% of the protein), 14 short extended strands (12.1%), and the rest as random coils (72%).[8]

Expression

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In humans, there is low expression of LOC100287387 in all tissues. Highest expression is in the skin and central nervous system tissue such as the pons, superior cervical ganglion, trigeminal ganglion, and globus pallidus. However, expression was inconsistent among patients.[9]

Regulation

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The promoter region of the LOC100287387 gene contains binding sites for many transcription factors which affect transcription levels of the gene. Within the promoter region, there are three TFIIB binding sites (initiates transcription), a cysteine-serine-rich nuclear protein 1 site (an activator), a Kruppel-like zinc finger protein 219 site (repressor), a stimulating protein 1 site (activator), and many more.[10]

Homology

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Orthologs to the human LOC100287387 gene are found only in mammals, and the protein sequence is not highly conserved. Conservation is highest in primates, and falls drastically among other mammals.[11] Conservation between species is highest at the nuclear localization signal and towards the end of the coding sequence at the G Patch domain and DUF308 which indicates these are the most functionally important parts of the sequence.[11]

Orthologs of Human LOC100287387
Genus and Species Common Name Divergence from Homo

sapiens (Million Years)[12]

Polypeptide Length[11] Sequence Identity (%)[11]
Homo sapiens Human 0 423 100
Pan Paniscus Bonobo 6.4 325 93
Nomascus leucogenys Gibbon 19.4 307 90
Oryctalagus cuniculus European Rabbit 88 241 57
Tursiops truncates Bottlenose Dolphin 94 300 64
Orcinus orca Killer Whale 94 300 64
Delphinapterus leucas Beluga Whale 94 338 57
Mustela putorious furo Ferret 94 303 57
Canis lupus Dog 94 184 & 63

(No continuous reading frame)

38

There are no paralogs of the human gene LOC100287387.[13]

Function

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The protein contains a nuclear localization signal, and most likely acts in the nucleus.[14] There are no confirmed protein interactions or associations to diseases.

References

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  1. ^ a b "LOC100287387 Gene (Protein Coding)". genecards.org. Retrieved February 4, 2018.
  2. ^ a b c "LOC100287387 uncharacterized LOC100287387 [Homo sapiens (humans)]". September 3, 2017. Retrieved April 26, 2018.
  3. ^ a b Pagni, Marco; Ioannidis, Vassilios; Cerutti, Lorenzo; Zahn-Zabal, Monique; Jongeneel, C. Victor; Hau, Jörg; Martin, Olivier; Kuznetsov, Dmitri; Falquet, Laurent (2007). "MyHits: improvements to an interactive resource for analyzing protein sequences". Nucleic Acids Research. 35 (Web Server issue): W433–W437. doi:10.1093/nar/gkm352. ISSN 0305-1048. PMC 1933190. PMID 17545200.
  4. ^ Liu, Wenzhong; Xie, Yubin; Ma, Jiyong; Luo, Xiaotong; Nie, Peng; Zuo, Zhixiang; Lahrmann, Urs; Zhao, Qi; Zheng, Yueyuan (2015-06-10). "IBS: an illustrator for the presentation and visualization of biological sequences: Fig. 1". Bioinformatics. 31 (20): 3359–3361. doi:10.1093/bioinformatics/btv362. ISSN 1367-4803. PMC 4595897. PMID 26069263.
  5. ^ Brendel, V.; Bucher, P.; Nourbakhsh, I. R.; Blaisdell, B. E.; Karlin, S. (1992-03-15). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences. 89 (6): 2002–2006. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. ISSN 0027-8424. PMC 48584. PMID 1549558.
  6. ^ Kozlowski, Lukasz P. (2016-10-21). "IPC – Isoelectric Point Calculator". Biology Direct. 11 (1): 55. doi:10.1186/s13062-016-0159-9. ISSN 1745-6150. PMC 5075173. PMID 27769290.
  7. ^ Xue, Yu; Ren, Jian; Gao, Xinjiao; Jin, Changjiang; Wen, Longping; Yao, Xuebiao (2008-09-01). "GPS 2.0, a Tool to Predict Kinase-specific Phosphorylation Sites in Hierarchy". Molecular & Cellular Proteomics. 7 (9): 1598–1608. doi:10.1074/mcp.M700574-MCP200. ISSN 1535-9476. PMC 2528073. PMID 18463090.
  8. ^ Garnier, J.; Gibrat, J. F.; Robson, B. (1996). "GOR method for predicting protein secondary structure from amino acid sequence". Computer Methods for Macromolecular Sequence Analysis. Methods in Enzymology. Vol. 266. pp. 540–553. doi:10.1016/S0076-6879(96)66034-0. ISBN 978-0-12-182167-8. ISSN 0076-6879. PMID 8743705.
  9. ^ Al, Sue; Wiltshire, T (April 20, 2004). "Large-scale analysis of the human transcriptome (HG-U133A)".
  10. ^ "Gene TF Analysis". genomatix.de.
  11. ^ a b c d Altschul, S. F.; Madden, T. L.; Schäffer, A. A.; Zhang, J.; Zhang, Z.; Miller, W.; Lipman, D. J. (1997-09-01). "Gapped BLAST and PSI-BLAST: a new generation of protein database search programs". Nucleic Acids Research. 25 (17): 3389–3402. doi:10.1093/nar/25.17.3389. ISSN 0305-1048. PMC 146917. PMID 9254694.
  12. ^ "Timetree: The Timescale of Life". Institute for Genomics and Evolutionary Medicine, Temple University.
  13. ^ Kent, W. James (2002-04-01). "BLAT—The BLAST-Like Alignment Tool". Genome Research. 12 (4): 656–664. doi:10.1101/gr.229202. ISSN 1088-9051. PMC 187518. PMID 11932250.
  14. ^ Horton, Paul (1999). "PSORT: Protein Subcellular Localization Prediction Tool". www.genscript.com. Retrieved 2018-04-23.
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