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Description:
eIF4B is required for the binding of mRNA to ribosomes. It functions in close association with eIF4F and eIF4A. It binds near the 5'-terminal cap of mRNA in the presence of eIF4F and ATP. It promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both eIF4A and eIF4F (referenced from swissprot).
Description:
CAPON (carboxy-terminal PDZ ligand of nNOS) selectively binds within the 100 amino acid PDZ domain of the neuronal nitric oxide synthase (nNOS), but not to endothelial NOS or inducible NOS, and sequesters nNOS in the cytosol. Biosynthesis of the neurotransmitter nitric oxide (NO) requires the association of nNOS with various synaptic proteins, including syntrophin, postsynaptic density (PSD)95 and PSD93 through a scaffolding PDZ domain. These proteins facilitate the transport of nNOS to the plasma membrane, where it is catalytically activated by NMDA-receptor mediated calcium channels. The association of nNOS with PSD95 or PSD93 is regulated by CAPON. The carboxy terminus of CAPON binds to the PDZ domain, competes with PSD95 and PSD93 for binding to nNOS and in turn prevents the translocation and catalytic activation of nNOS.
Description:
Imp3, is a 184 amino acid protein that contains one S4 RNA-binding domain and is the mammalian homolog of the yeast Imp3 protein. localised to the nucleus, Imp3 exists as a component of a heterotrimeric complex consisting of MPP10, Imp3 and Imp4 and, in this complex, plays a key role in early cleavage events during pre-18S ribosomal processing. The gene encoding Imp3 maps to human chromosome 15, which houses over 700 genes and comprises nearly 3% of the human genome. Angelman syndrome, Prader-Willi syndrome, Tay-Sachs disease and Marfan syndrome are all associated with defects in chromosome 15-localised genes.
Description:
Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B/C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. ASB-7 (ankyrin repeat and SOCS box-containing 7) is a 318 amino acid protein that contains one SOCS box domain and seven ANK repeats and belongs to the ASB family. Existing as multiple alternatively spliced isoforms, ASB-7 functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex and, working in conjunction with other proteins, plays a role in the ubiquitination and subsequent proteasomal degradation of target proteins.
Description:
Retinoic acid induced 1 (RAI1) is a 1906 amino acid protein containing an N-terminal polyglutamine stretch that is expressed in most tissues, with highest expression in neuronal tissues. RAI1 functions as a transcriptional regulator and is important for embryonic and postnatal developments. Heterozygous deletions of the RAI1 gene are associated with Smith-Magenis syndrome (SMS), a mental retardation syndrome with behavioural, neurological and skeletal anomalies. Individuals affected with SMS usually display self-injurious behaviors, sleep disturbance, developmental delay and reduced motor and cognitive skills. RAI1 haploinsufficiency is specifically responsible for the obesity and craniofacial symptoms of SMS. RAI1 mutations have also been implicated in schizophrenia and spinocerebellar ataxia type 2.
Description:
eIF4B is required for the binding of mRNA to ribosomes. It functions in close association with eIF4F and eIF4A. It binds near the 5'-terminal cap of mRNA in the presence of eIF4F and ATP. It promotes the ATPase activity and the ATP-dependent RNA unwinding activity of both eIF4A and eIF4F (referenced from swissprot).
Description:
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage. [provided by RefSeq].eIF4G1 (eukaryotic translation Initiation Factor 4 Gamma 1) is a component of the protein complex eIF-4 which is involved in the recognition of the mRNA cap ATP-dependent unwinding of the 5'-terminal secondary structure and recruitment of mRNA to the ribosome. eIF4G plays a critical role in protein expression and is at the center of a complex regulatory network. Together with the cap-binding protein eIF4E, it recruits the small ribosomal subunit to the 5'-end of mRNA and promotes the assembly of a functional translation initiation complex which scans along the mRNA to the translation start codon. Human eIF4G contains three consecutive HEAT domains, as well as long unstructured regions involved in multiple protein-protein interactions. The interactions of eIF4G1 with other factors are largely unknown.
Description:
NAP125, also known as NCKAP1 (NCK-associated protein 1), p125Nap1 or membrane-associated protein HEM-2, is a 1,128 amino acid single pass membrane protein that exists as two alternatively spliced isoforms and belongs to the HEM-1/HEM-2 family. While widely expressed, NAP125 is found at highest levels in heart, brain and skeletal muscle where it regulates Rac-dependent actin remodeling as part of a lamellipodial complex with WAVE2, Abi-1 and CYFIP1. NAP125 localizes to the cytoplasmic side of lamellipodium membrane and is encoded by a gene that maps to human chromosome 2q32.1 and mouse chromosome 2 C3. NAP125 expression is markedly reduced in Alzheimer disease (AD)-affected brains, suggesting a possible role in the disease.
Description:
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity.
Description:
The protein encoded by this gene is the CD3-epsilon polypeptide, which together with CD3-gamma, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. The epsilon polypeptide plays an essential role in T-cell development. Defects in this gene cause immunodeficiency. This gene has also been linked to a susceptibility to type I diabetes in women. [provided by RefSeq, Jul 2008].
Description:
BRP44L, also known as HSPC040 or CGI-129, is a 109 amino acid mitochondrial protein belonging to the UPF0041 family. The gene that encodes BRP44L maps to human chromosome 6. Making up nearly 6% of the human genome, chromosome 6 contains around 1,200 genes within 170 million base pairs of sequence. Deletion of a portion of the q arm of chromosome 6 is associated with early onset intestinal cancer suggesting the presence of a cancer susceptibility locus. Porphyria cutanea tarda is associated with chromosome 6 through the HFE gene which, when mutated, predisposes an individual to developing this porphyria. Notably, the PARK2 gene, which is associated with Parkinson's disease, and the genes encoding the major histocompatiblity complex proteins, which are key molecular components of the immune system and determine predisposition to rheumatic diseases, are also located on chromosome 6. Stickler syndrome, 21-hydroxylase deficiency and maple syrup urine disease are also associated with genes on chromosome 6. A bipolar disorder susceptibility locus has been identified on the q arm of chromosome 6.
Description:
ECHS1 (Enoyl Coenzyme A hydratase, short chain, 1) catalyses the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs, in the second step of the mitochondrial fatty acid beta-oxidation pathway.
Description:
FADS1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids from precursor essential polyunsaturated fatty acids, linoleic acid and alphanlinolenic acid. It catalyzes the desaturation of dihomo gamma linoleic acid and eicosatetraenoic acid to generate arachidonic acid and eicosapentaenoic acid respectively.
Description:
FADS1 is a component of a lipid metabolic pathway that catalyzes biosynthesis of highly unsaturated fatty acids from precursor essential polyunsaturated fatty acids, linoleic acid and alphanlinolenic acid. It catalyzes the desaturation of dihomo gamma linoleic acid and eicosatetraenoic acid to generate arachidonic acid and eicosapentaenoic acid respectively.
Description:
Contributes to the de novo mitochondrial thymidylate biosynthesis pathway.
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