Deletion of exon 3 should result in loss of function of the Slc39a8 gene by deleting the N-terminal part of the ZIP domain and the first 2 transmembrane domains, and by generating a frameshift from exon 3 to downstream exons (premature Stop codon in exon 4). (taconic.com)
The exon at this point encodes the transmembrane domain. (wikipedia.org)
Here, we discover a previously unknown type of SBD in four independent families caused by bi-allelic loss-of-function pathogenic variants in TMEM53 , which encodes a nuclear envelope transmembrane protein. (nature.com)
In this study, we discover a previously unknown type of SBD and identify its causal gene, TMEM53 , which encodes nuclear envelope transmembrane (NET) protein 53 (TMEM53, also known as NET4). (nature.com)
The ~64 kb DAT1 gene ( SLC6A3 ) that encodes the DAT includes 15 exons separated by 14 introns [ 1 ]. (biomedcentral.com)
Protein11
Divalent metal transporter 1 (DMT1) is generally considered to be the major transmembrane protein responsible for the uptake of a variety of divalent cations. (cdc.gov)
Two distinct promoter sites regulate production of the 1A or 1B isoforms (translation starts at exon 2) for both the +IRE or -IRE species of the transporter resulting in the generation of four distinct configurations of this protein. (cdc.gov)
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. (nih.gov)
The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. (nih.gov)
Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22. (nih.gov)
Streptavidin-peroxidase (SP) method was used to quantify protein expression of molecular markers (estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2)), molecular markers of proliferation (Ki-67 and epidermal growth factor receptor (EGFR)) and epithelial-mesenchymal transition (EMT) molecular markers (matrix metalloproteinase-2 (MMP-2), E-cadherin and downstream N-cadherin). (wjon.org)
Aspartate β-hydroxylase (ASPH) is a type II transmembrane protein and the member of α-ketoglutarate-dependent dioxygenase family, found to be overexpressed in different cancer types, including PC. (bjbms.org)
PTPRD has a tumor suppressor function in neuroblastoma through AURKA dephosphorylation and destabilization and a downstream destabilization of MYCN protein, representing a novel mechanism for the function of PTPRD in neuroblastoma. (biomedcentral.com)
Protein tyrosine phosphatase receptor delta ( PTPRD ) is an important regulator of axon growth and guidance and is highly expressed in the central nervous system where it functions as a transmembrane homophilic neuronal cell adhesion molecule [ 1 ]. (biomedcentral.com)
We further demonstrate that PTPRD has a tumor suppressor function in neuroblastoma through dephosphorylating and destabilizing AURKA, leading to a downstream decrease of MYCN protein. (biomedcentral.com)
The main splice variant is composed of three exons that code for a 232 amino acid protein, clarin 1. (molvis.org)
Tyrosine kinase2
FLT3 offers 993 proteins in length, consists of five extracellular immunoglobulin-like domains, a transmembrane website, a juxtamembrane website and two intracellular tyrosine kinase domains connected with a kinase-insert website. (bioxorio.com)
J Clin Endocrinol Metab Ninety-six: E1881-E1887, Next year)Her-2/neu (ErbB2) is often a transmembrane tyrosine kinase and behaves as a co-receptor for the some other EGFR family members. (mirna21.com)
Gene7
The GypA gene itself consists of 7 exons and has 97% sequence homology with GypB and GypE from the 5' untranslated transcription region (UTR) to the coding sequence encoding the first 45 amino acids. (wikipedia.org)
Four isoforms of DMT1 have been identified in mammalian cells encoded by a single gene that differ both in their N- and C-terminal sequences with two mRNA isoforms possessing an iron response element (IRE) motif downstream from the stop codon on the message. (cdc.gov)
Plasmodium berghei NTH is encoded by a three-exon gene and is composed of 1,201 amino acids with a calculated Mr of 135,198 and has a predicted amino-terminal ER signal peptide sequence that forms part of a bipartite apicoplast targeting sequence. (pberghei.eu)
The KIT gene is rather complex consisting of 21 exons in a 70 kb region. (creation.com)
Interestingly, five mRNA isoforms are produced from the PenB_MT2 gene, which result from alternative splicing within the second and third exon. (biomedcentral.com)
The SLC2A10 gene contains five exons and spans a genomic region of at least 28 kb. (diabetesjournals.org)
A 40-bp variable number of tandem repeats (VNTR) polymorphism exists in the 15th exon of DAT1 , the gene encoding the human dopamine transporter (DAT). (biomedcentral.com)
Intron2
Within the intron downstream of this pint is an Alu repeat. (wikipedia.org)
The exon-intron structure of all three genes has been characterized and pre-mRNA processing was investigated. (biomedcentral.com)
EGFR2
EGFR downstream signaling promotes constitutive activation of TKIs domain due to the mutation in exon 19 and exon 21 (L858R point mutation), which leads to cell proliferation, invasion, metastasis, and angiogenesis, causing lung adenocarcinoma. (lidsen.com)
In addition, silibinin suppressed the EGF-induced phosphorylation of EGFR and extracellular signal-regulated kinase1/2 (ERK1/2), a downstream signaling molecule of EGFR. (iiarjournals.org)
Amino acids2
Therefore, amino acids in multifunctional docking sites of Met have been exchanged with specific binding motifs for downstream adaptor molecules in order to investigate the signaling potential of the HGF‑Met signaling pathway. (spandidos-publications.com)
GFP in which 60 amino acids were removed downstream of the ER signal peptide, including the predicted apicoplast transit peptide. (pberghei.eu)
Glycoprotein1
The CD44 , an 85-90 kDa transmembrane glycoprotein, is a receptor of the extracellular matrix component hyaluronan (HA) ( 8 ). (iiarjournals.org)
Deletion1
Consequently, a couple,487-bp microdeletion including exon 1U was identified in the event that 1 as well as an similar 49,604-bp deletion including exon 1U and exon 1 is discovered in the event A couple of 3. (mirna21.com)
Intracellular1
Most of the 10 exons coding the intracellular portion correspond to specific structural elements, such as α-helices or β-sheets. (creation.com)
Coding sequence2
The exception is the final exon which not only codes the terminal portion of the receptor, but also includes a 2,147 bp non-coding sequence that follows. (creation.com)
Multiple mechanisms appear to exist for the down-regulation of PTPRD in neuroblastoma, including intragenic microdeletions which can include coding sequence, or in some instances be restricted to non-coding exons of an extended 5' UTR [ 5 ]. (biomedcentral.com)
IRE1α-XBP1 were essential for expansion of activated mouse and human NK cells and are situated downstream of the mammalian target of rapamycin signaling pathway. (cancerindex.org)
Isoforms1
The standard form of CD44 is usually ubiquitously expressed on epithelial cells and lymphocytes, but inclusion of one or more of 10 variant exons produces tissue-specific multiple variant isoforms (CD44v2-v10) by alternate mRNA splicing ( 9 ). (iiarjournals.org)
All three hands have overlapping however distinct obligations and regulate various downstream genes 3. (biomasswars.com)
Proteins2
Within this research, all of us observed that quercetin decreased how much Her-2/neu health proteins within time- and also dose-dependent ways and also restricted the downstream emergency PI3K-Akt signaling path inside Her-2/ neu-overexpressing cancers of the breast SK-Br3 tissue. (mirna21.com)
The human dopamine transporter (hDAT), one member of a family of Na + /Cl - dependent transmembrane transport proteins, serves as a critical regulator of dopaminergic neurotransmission throughout much of the brain. (biomedcentral.com)
MRNA2
Both exon ends are after CDC14A that ligated by an unfamiliar process 24 permitting the spliced (mRNA IRE1 also cleaves a go for group of ER targeted mRNAs 27. (biomasswars.com)
In many of these cases, a single exon is involved, and its transcription yields a variant mRNA [ 5 ]. (ecancer.org)
Receptor2
Though research studies get indicated the presence of the CpG-rich region manifestation of cleaning genetics throughout the untranslated exon 1 (exon 1U) and a tropic aftereffect of thyroid hormonal about POR phrase by way of thyroid endocrine receptor-beta, detailed regulating elements to the POR appearance remain to be responded. (mirna21.com)
CD44, the transmembrane receptor for hyaluronan, is implicated in tumor cell invasion and metastasis. (iiarjournals.org)
Variants1
The present study utilized radioligand binding and immunoblotting techniques to compare in vitro DAT density and ligand affinity across a series of cell lines stably transfected with constructs containing the DAT1 coding region flanked downstream by one of four DAT1 3'UTR variants. (biomedcentral.com)
Domain1
The PfTRAMP homologue in P. vivax , here denoted as PvTRAMP, is a 340-amino-acid long antigen encoded by a single exon that could have a potential role in cytoadherence, as indicated by the presence of a thrombospondin structural homology repeat (TSR) domain. (biomedcentral.com)
Domains1
Each is coded by one or two exons with the boundaries of the exons defining the boundaries of these domains. (creation.com)
Region3
Exon 3 has been flanked by loxP sites (size of loxP-flanked region: 1.4 kb). (taconic.com)
The exons encode the α chain, with four kringle structures (highly conserved triple disulfide loop structures), a short spacer region between the α and β chains, and the β chain ( Fig. 1A ) ( 4 - 6 ). (spandidos-publications.com)
A series of four DAT1 constructs, each containing the DAT1 coding region, but varying with respect to the downstream presence or content of the 3'UTR, were engineered and stably transfected into an HEK-293 variant using Flp-In integration, an enzyme-mediated, site-specific recombination technology. (biomedcentral.com)
Benefit an ER resident transmembrane eIF-2α kinase halts translation 6 to induce transcriptional applications via nonconventional translation of ATF4 which leads to both pro-life and pro-death results 7. (biomasswars.com)
Similar2
[2] [11] Efforts to engineer a more potent IFNα2 elicited a cellular response similar to IFNβ, suggesting that the affinity of type I IFNs for IFNAR has an important role in regulating the downstream response. (wikidoc.org)
Hundreds of examples have been identified in which individual exons possess sequences that are similar or identical to TE fragments [ 3 , 4 ]. (ecancer.org)
Signal1
The downstream signal transduction toward Eda-A1 involves the canonical Wnt/β-catenin pathway (Clevers 2006 ) and requires lymphoid enhancer-binding factor-1 (Lef-1) for activation of the Ed1 ( Ta ) expression (Durmowicz et al. (springer.com)
Cell1
Transcriptome and chromatin immunoprecipitation analysis revealed c-Myc as a new and direct downstream target of XBP1 for regulation of NK cell proliferation. (cancerindex.org)
Sites1
The outcome demonstrated a crucial objective of your evolutionally maintained SP1 presenting sites simply upstream associated with exon 1U, particularly the joining internet site in the place -26/-17, from the transcribing involving POR. (mirna21.com)