KIAA1211L is a protein that in humans is encoded by the KIAA1211L gene. It is highly expressed in the brain (Cerebral Cortex).[5] Furthermore, it is localized to the microtubules and the centrosomes and is subcellularly located in the nucleus.[6][7] Finally, KIAA1211L is associated with certain mental disorders and various cancers.[8][9]
KIAA1211L is a protein-coding gene.[10] The table above presents the gene's alias, location, size and accession number.
mRNA
There are 11 splice isoforms of the gene KIAA1211L.[5] The validated isoform has 10 exons.[5]
Protein
Conceptual Translation KIAA1211L Part 1. The upstream stop codon is orange, the exon boundaries are highlighted blue, the start codon is green, the predicted nuclear location signal is denoted by a purple box, the conserved regions are highlighted orange, the phosphorylation sites are highlighted yellow, the predicted SUMOylation sites are denoted by green boxes, the DUF4592 Motif is highlighted red.Conceptual Translation KIAA1211L Part 2. The exon boundaries are highlighted blue, the conserved regions are highlighted orange, the predicted SUMOylation sites are denoted by green boxes, the stop codon is red, the predicted miRNA 132 target is underlined in purple, and the polyadenylation signal is highlighted magenta.
The table above presents the protein's alias, size, and accession number. The KIAA1211L protein is proline rich and asparagine, isoleucine, phenylalanine, and tyrosine poor.[12]
Domains and motifs
KIAA1211L Schematic. This figure is a schematic illustration of KIAA1211L. The nuclear location signal is blue, the phosphorylation sites are red, the SUMOylation sites are grey, and the DUF4592 motif is orange.
The KIAA1211L protein has one domain called the DUF4592 motif and spans amino acids 131–239.[14] This domain is highly conserved among the KIAA1211L orthologs. The DUF4592 motif is depicted in both the conceptual translation and schematic figures.
Post translational modifications
KIAA1211L is phosphorylated at the Ser92 and Ser490 amino acids.[15] The KIAA1211L protein is also predicted to have five different SUMOylation sites located at Lys134, Lys375, Lys866, Lys874, and Lys914.[16] Both the phosphorylated sites and the SUMOylation sites are depicted in the conceptual translation and schematic figures.
The KIAA1211L protein is predicted to be located in the nucleus.[7] The orthologs, including the elephant shark, horse, rock dove, and chimp, are also predicted to be located in the nucleus.[7] The nuclear location signal is located on amino acids 25-43 which is depicted in both the conceptual translation and schematic figures. .[7] This signal is conserved throughout the orthologs. Additionally, this location (amino acids 24-43) is positively charged, probably due to the high amount of lysine at this location.[12] Finally, it is predicted that KIAA1211L is mainly localized to the microtubules and centrosome and sometimes localized to the cytokinetic bridge.[6]
Expression
The gene is highly expressed in the brain (Cerebral Cortex).[5] The KIAA1211L protein is located in many different tissue types, including the brain, the hippocampus, the lung, breast carcinoma, the islets of Langerhans, the pancreas, the kidney, and 38 other tissues.[18] Additionally, it is expressed an average amount compared to other human proteins.[19]
Regulation of transcription
The promoter region of KIAA1211L is approximately 1340 base pairs with various predicted transcription factors.[20] The glial cells missing homolog 1 and the oligodendrocyte lineage transcription factors are notable because KIAA1211L is highly expressed in the brain.[20][5] Furthermore, the Estrogen-related receptor alpha is also a notable transcription factor due to KIAA1211L's low expression levels when estrogen receptors are knocked down.[21][20] Furthermore, KIAA1211L is predicted to be SUMOylated.[16] The 3' UTR of KIAA1211L is predicted to be a targeted by miRNA-132, which is depicted in the conceptual translation figure.[22]
GSK3B is a protein kinase that regulates transcription factors and microtubules.[23] As such, it phosphorylates proteins, decreasing their ability to bind and stabilize microtubules.[23] The proteins it phosphorylates are the principle components of neurofibrillary tangles in Alzheimer disease.[23] The protein is needed for the establishment of neuronal polarity and axon outgrowth and phosphorylates proteins in neuroblastoma cells.[23] Furthermore, it is associated with bipolar disease and is active in breast cancer cells.[23][24]
As such, the predicted interaction between KIAA1211L and GSK3B is likely because KIAA1211L is highly expressed in the brain, associated with bipolar disorder and breast cancer, and is localized on the microtubules.[5][6][8][9] The interaction between GSK3B and KIAA1211L was predicted using anti bait coimmunoprecipitation, pull down, tandem affinity purification, fluorescence polarization spectroscopy, protein kinases assay, two hybrid, and confocal microscopy experiments.[25]
KIAA1211L is associated with depression, bipolar disorder, and schizophrenia.[9] Additionally, KIAA1211L is associated with various cancers including ovarian, breast, etc.[8]
Homology
Paralogs
KIAA1211 is the paralog to KIAA1211L. KIAA1211 is located on chromosome 4 and has 1233 amino acids.[26] Its percent identity to KIAA1211L is 21%.[27] The KIAA1211 has an ortholog in the bacteria Proteus vulgarism, indicating the paralog duplicated 4290 million years ago, before KIAA1211L.[28][29]
Orthologs
Below is the table of various KIAA1211L orthologs. It includes closely, intermediately, and distantly related orthologs. The most distant ortholog is the elephant shark, indicating KIAA1211L duplicated 473 MYA. The amino acids conserved among all the KIAA1211L orthologs are depicted in the conceptual translation.
The KIAA1211L gene is similar and conserved in mammals, birds, reptiles, amphibians, and fish. It is not conserved in bacteria, archaea, protists, plants, fungus, trichoplax, and invertebrates.
↑ Alvarez-Saavedra, M (2010). "MicroRNA-132-Dependent Post-Transcriptional Regulation of Clock Entrainment Physiology Via Modulation of Chromatin Remodeling and Translational Control Gene Targets". University of Ottawa.
Protein YIF1A is a protein that in humans is encoded by the YIF1A gene.
KIAA1841 is a gene in humans that encodes a protein known as KIAA1841. KIAA1841 is targeted for the nucleus and it predicted to play a role in regulating transcription.
WD repeat-containing protein 90 is a protein that in humans is encoded by the WDR90 gene (16p13.3). This human protein is 1750 amino acids, and has a molecular weight of 187.7 kDa. It contains multiple WD40 repeat domains and one domain of unknown function. This protein is conserved all the way back to invertebrates. Proteins containing WD transducin repeating domains have been found to play a role in a variety of functions ranging from signal transduction and transcription regulation to cell cycle control, autophagy and apoptosis.
Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.
Coiled-coil domain containing protein 180 (CCDC180) is a protein that in humans is encoded by the CCDC180 gene. This protein is known to localize to the nucleus and is thought to be involved in regulation of transcription as are many proteins containing coiled-coil domains. As it is expressed most highly in the testes and is regulated by SRY and SOX transcription factors, it could be involved in sex determination.
Glutamate Rich Protein 5 is a protein in humans encoded by the ERICH5 gene, also known as Chromosome 8 open reading frame 47 (C8orf47).
Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human protein-coding gene. Several studies indicate a possible link between genetic polymorphisms of this and several other genes to chronic inflammatory barrier diseases such as Crohn's Disease and sarcoidosis.
Uncharacterized protein C12orf60 is a protein that in humans is encoded by the C12orf60 gene. The gene is also known as LOC144608 or MGC47869. The protein lacks transmembrane domains and helices, but it is rich in alpha-helices. It is predicted to localize in the nucleus.
C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.
Chromosome 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.
Uncharacterized protein Chromosome 1 Open Reading Frame 27 is a protein in humans, encoded by the C1orf27 gene. It is accession number NM_017847. This is a membrane protein that is 3926 base pairs long with the most extensive string of amino acids being 454aa long. C1orf27 exhibits cytoplasmic expression in epidermal tissues. Predicted associated biological processes of the gene include cell fate specification and developmental properties.
Transmembrane protein 44 is a protein that in humans is encoded by the TMEM44 gene.
TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.
Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.
Single-pass membrane and coiled-coil domain-containing protein 3 is a protein that is encoded in humans by the SMCO3 gene.
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.
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.
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.
Family with sequence 98, member C or FAM98C is a gene that encodes for FAM98C has two aliases FLJ44669 and hypothetical protein LOC147965. FAM98C has two paralogs in humans FAM98A and FAM98B. FAM98C can be characterized for being a Leucine-rich protein. The function of FAM98C is still not defined. FAM98C has orthologs in mammals, reptiles, and amphibians and has a distant orhtologs in Rhinatrema bivittatum and Nanorana parkeri.
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