KIAA0090

File:Genetic breakdown.jpgKIAA0090 is located on chromosome one in the p arm at location 1p36.132.{{cite web |url=https://www.ncbi.nlm.nih.gov/nuccore/22095330?report=fasta |title=Enterez Nucleotide, KIAA0090 |date=April 2010 |publisher=NCBI |access-date=2010-04-23}} It covers 36.74 kb, from base pairs 19451486 to 19414744. The gene is composed of 37 gt-at introns/alternative introns with 57 exons expressed in 1 unspliced form of 4253 bp and 20 alternatively spliced forms of varying lengths.{{cite web |url= https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/ |title=Aceview |date=April 2010 |publisher=NCBI |access-date=2010-04-23}} The gene has 8 probable promoters.{{cite web |url=http://www.genomatix.de/ |title=El Dorado, KIAA0090 |author=Genomatix |publisher=Genomatix |access-date=2010-05-10 |archive-date=2021-12-02 |archive-url=https://web.archive.org/web/20211202010908/https://www.genomatix.de/ |url-status=dead }} The gene is flanked by UBR4 on its right and MRTO4 on its left. This Information is graphically displayed in Figure 1.

Expressed Sequence Tags and isolated cDNA clones indicate KIAA0090 is expressed ubiquitously in low to moderate levels throughout the body.{{cite web |url=https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=439200&log$=TitleAreaLink |title=Unigene, KIAA0090 |date=March 2010 |publisher=NCBI |access-date=2010-04-05}} This includes but is not limited to testis, tongue, lung, cerebellum, brain, mammary gland, trachea, placenta, esophageal, salivary gland, brain, hippocampus, amygdale, bone marrow, thalamus, spleen, uterus, thymus, kidney, eye, heart, gall bladder, prostate, liver, parathyroid gland, ovary, stomach, skeletal muscle, colon, pancreas, and skin. Expression of KIAA0090 changes throughout development (embryogenesis, fetal, adult, etc.)and during carcinogenesis. Evidence indicates a correlation between conditions and expression level but no data exists to suggest KIAA0090 is responsible for any disease or stage of development.

The mRNA for this gene codes for 18 protein isoforms6. The remaining 3 splice variants have no evidence supporting their ability to be translated.

Analysis indicates the KIAA0090 unspliced protein product to be 993 amino acids long with an isoelectric point of 7.418 and a molecular weight of 111765.73 daltons.AASTATS; Jack Kramer, 1990. http://seqtool.sdsc.edu {{Webarchive|url=https://web.archive.org/web/20030811031200/http://seqtool.sdsc.edu/ |date=2003-08-11 }} Accessed April 21, 2010PI; Program by Dr. Luca Toldo, developed at http://www.embl-heidelberg.de. Changed by Bjoern Kindler to print also the lowest found net charge. http://seqtool.sdsc.edu {{Webarchive|url=https://web.archive.org/web/20030811031200/http://seqtool.sdsc.edu/ |date=2003-08-11 }} Accessed April 22, 2010 The primary structure of this protein contains 4 conserved domains.{{cite web |url=https://www.genecards.org |title=Gene cards |access-date=2010-02-14}} This includes a signal peptide from position 1 to 22, a COG1520 WD40 like domain, a leucine zipper domain, a DUF1620 domain (domain of unknown function), and a transmembrane domain. These can be viewed in Figure 2. Several conserved cysteine residues are present at positions 226,235, 335, 364,449, 581, 675, 925, and 985.{{cite journal |vauthors=Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S | title = Methods and algorithms for statistical analysis of protein sequences | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 89 | issue = 6 | pages = 2002–6 |date=March 1992 | pmid = 1549558 | pmc = 48584 | doi = 10.1073/pnas.89.6.2002| bibcode = 1992PNAS...89.2002B | doi-access = free }} Several internal localization signals are also present.{{cite journal |vauthors=Horton P, Park KJ, Obayashi T, Fujita N, Harada H, Adams-Collier CJ, Nakai K | title = WoLF PSORT: protein localization predictor | journal = Nucleic Acids Res. | volume = 35 | issue = Web Server issue | pages = W585–7 |date=July 2007 | pmid = 17517783 | pmc = 1933216 | doi = 10.1093/nar/gkm259 }}{{cite journal |vauthors=la Cour T, Kiemer L, Mølgaard A, Gupta R, Skriver K, Brunak S | title = Analysis and prediction of leucine-rich nuclear export signals | journal = Protein Eng. Des. Sel. | volume = 17 | issue = 6 | pages = 527–36 |date=June 2004 | pmid = 15314210 | doi = 10.1093/protein/gzh062 | doi-access = free }}{{cite journal |vauthors=Bendtsen JD, Jensen LJ, Blom N, Von Heijne G, Brunak S | title = Feature-based prediction of non-classical and leaderless protein secretion | journal = Protein Eng. Des. Sel. | volume = 17 | issue = 4 | pages = 349–56 |date=April 2004 | pmid = 15115854 | doi = 10.1093/protein/gzh037 | doi-access = free }}{{cite journal |vauthors=Bendtsen JD, Nielsen H, von Heijne G, Brunak S | title = Improved prediction of signal peptides: SignalP 3.0 | journal = J. Mol. Biol. | volume = 340 | issue = 4 | pages = 783–95 |date=July 2004 | pmid = 15223320 | doi = 10.1016/j.jmb.2004.05.028 | citeseerx = 10.1.1.165.2784 }}{{cite journal |vauthors=Gupta R, Brunak S | title = Prediction of glycosylation across the human proteome and the correlation to protein function | journal = Pac Symp Biocomput | pages = 310–22 | year = 2002 | pmid = 11928486 | doi = 10.1142/9789812799623_0029| isbn = 978-981-02-4777-5 | url = http://www.cbs.dtu.dk/services/YinOYang/ | url-access = subscription }} Dependent on splice outcome and posttranslational modification, these additional signals indicate the protein could localize to the peroxisome, the plasma membrane, outside the cell, the cytosol, the nucleus, or mitochondria.

File:Conceptual Translation 1.jpg

Post translational modification of KIAA0090 can occur. 54 possible sites of phosphorylation exist; 33 serines, 10 threonines, and 11 tyrosines.{{cite journal |vauthors=Blom N, Gammeltoft S, Brunak S | title = Sequence and structure-based prediction of eukaryotic protein phosphorylation sites | journal = J. Mol. Biol. | volume = 294 | issue = 5 | pages = 1351–62 |date=December 1999 | pmid = 10600390 | doi = 10.1006/jmbi.1999.3310 }} 3 sites of N-linked glycosylation are present at residues 370, 818, and 913NetNGlyc; Prediction of N-glycosylation sites in human proteins.R. Gupta, E. Jung and S. Brunak. In preparation, 2004. http://www.cbs.dtu.dk/services/NetNGlyc/ Accessed April 20, 2010. The signal peptide can be cleaved between residues 21 and 22. File:Another KIAA0090 Conceptual Translation.jpgThis information is graphically displayed in Figure 3. Structure beyond the primary remains predicative. Bioinformatic analysis yields consensus data that is also displayed in Figure 3.{{cite journal |vauthors=McGuffin LJ, Bryson K, Jones DT | title = The PSIPRED protein structure prediction server | journal = Bioinformatics | volume = 16 | issue = 4 | pages = 404–5 |date=April 2000 | pmid = 10869041 | doi = 10.1093/bioinformatics/16.4.404| doi-access = free }}PROF; Aberystwyth University Computational Biology Group. Department of Computer Science, Aberystwyth SY23 3DB, Wales, UK. http://www.aber.ac.uk/~phiwww/prof/ Accessed: April 23, 2010 The protein is highly conserved throughout Eukaryotes both in multi and single cellular organisms. This includes but is not limited to animals, plants, fungi, and protists.

File:KIAA0090 Interaction Diagram.jpgThe WD40 like domain COG1520 is KIAA0090s only identified functional effector domain. WD40 containing proteins are signal transducers involved in transduction of signals to binding factors, the centromeres, and other effectors.{{cite journal |vauthors=Neer EJ, Schmidt CJ, Nambudripad R, Smith TF | title = The ancient regulatory-protein family of WD-repeat proteins | journal = Nature | volume = 371 | issue = 6495 | pages = 297–300 |date=September 1994 | pmid = 8090199 | doi = 10.1038/371297a0 | bibcode = 1994Natur.371..297N | s2cid = 600856 }} Coimmunoprecipitation experiments have proven KIAA0090 interaction with these types of proteins; specifically the centromeric protein CENPH, the BAX Inhibitor TMBI4, the ADP ribosylation factor ARF6, the kinase TNIK, and the transcriptional repressor T22D1.{{cite journal |vauthors=Prieto C, De Las Rivas J | title = APID: Agile Protein Interaction DataAnalyzer | journal = Nucleic Acids Res. | volume = 34 | issue = Web Server issue | pages = W298–302 |date=July 2006 | pmid = 16845013 | pmc = 1538863 | doi = 10.1093/nar/gkl128 }} The number of splice variants indicates this list is probably not definitive. As further characterization is completed additional interactions would be expected.

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Category:Genes on human chromosome 1