Supplier: Bioss

MRPL12 is a component of the 39S subunit of mammalian mitochondrial ribosomes. This protein forms homodimers whereas in prokaryotic ribosomes two L7/L12 dimers and one L10 protein form the L8 protein complex.

Supplier: Bioss

HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. p55 is digested by HIV1 protease into intermediate products p41 and p15. p41 is further digested into matrix protein p17 and capsid protein p24. Likewise, p15 is further digested into nucleocapsid protein p7 and to p6 and p1.

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Paraneoplastic neurological disorders (PNDs) are rare syndromes that are caused by, or associated with, an underlying neoplasm. The most common neoplasm among young male patients is testicular cancer, but the leading cause among other patients is lung cancer. Most PNDs are caused by an immune response against onconeural antigens, causing progressive neurological damage. The paraneoplastic antigen MA family contains three known members: MA1, MA2 and MA3. MA1, also designated neuron- and testis-specific protein 1, is a nucleolar protein in normal cells but localizes to the cytoplasm of tumor cells. MA2, also designated onconeuronal antigen MA2, is a nucleolar protein expressed in brain and testis. MA3 is highly expressed in brain and testis and is expressed at low levels in heart, trachea and kidney.

Supplier: Bioss

PHYHIP (Phytanoyl-CoA hydroxylase-interacting protein) is a 330 amino acid protein that is strongly expressed in brain, with weak expression in ovary, small intestine and ovary. In transgenic mice, overexpression of PHYHIP in heart results in tachycardia and tachyarrhythmia. PHYHIP interacts with the Refsum disease gene product, PAHX, indicating that PHYHIP may play a role in the CNS deficits of Refsum disease, which is characterized by cerebellar degeneration, neurologic damage and peripheral neuropathies. PHYHIP also interacts with Dyrk1A, a protein that that is overexpressed in brain of Down-syndrome patients, therefore PHYHIP may participate in some of the neurological abnormalities of Down syndrome. Significantly, the gene encoding PHYHIP is localized to a region of the short arm of human chromosome 8 that is frequently found deleted in prostate, breast and several other types of cancers.

Supplier: Bioss

RFPL4B contains 1 B30.2/SPRY domain and 1 RING type zinc finger. The function of RFPL4B remains unknown.

Supplier: Bioss

HIV1 performs highly complex orchestrated tasks during the assembly, budding, maturation and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. p55 is digested by HIV1 protease into intermediate products p41 and p15. p41 is further digested into matrix protein p17 and capsid protein p24. Likewise, p15 is further digested into nucleocapsid protein p7 and to p6 and p1.

Supplier: Bioss

Paraneoplastic neurological disorders (PNDs) are rare syndromes that are caused by, or associated with, an underlying neoplasm. The most common neoplasm among young male patients is testicular cancer, but the leading cause among other patients is lung cancer. Most PNDs are caused by an immune response against onconeural antigens, causing progressive neurological damage. The paraneoplastic antigen MA family contains three known members: MA1, MA2 and MA3. MA1, also designated neuron- and testis-specific protein 1, is a nucleolar protein in normal cells but localizes to the cytoplasm of tumor cells. MA2, also designated onconeuronal antigen MA2, is a nucleolar protein expressed in brain and testis. MA3 is highly expressed in brain and testis and is expressed at low levels in heart, trachea and kidney.

Supplier: Bioss

PHYHIP (Phytanoyl-CoA hydroxylase-interacting protein) is a 330 amino acid protein that is strongly expressed in brain, with weak expression in ovary, small intestine and ovary. In transgenic mice, overexpression of PHYHIP in heart results in tachycardia and tachyarrhythmia. PHYHIP interacts with the Refsum disease gene product, PAHX, indicating that PHYHIP may play a role in the CNS deficits of Refsum disease, which is characterised by cerebellar degeneration, neurologic damage and peripheral neuropathies. PHYHIP also interacts with Dyrk1A, a protein that that is overexpressed in brain of Down-syndrome patients, therefore PHYHIP may participate in some of the neurological abnormalities of Down syndrome. Significantly, the gene encoding PHYHIP is localised to a region of the short arm of human chromosome 8 that is frequently found deleted in prostate, breast and several other types of cancers.

Supplier: Bioss

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

Supplier: Bioss

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

Supplier: Bioss

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].

Supplier: Bioss

BEGAIN is a 593 amino acid protein that localizes to cytoplasm and membrane. BEGAIN interacts with PSD-95 and SAPAP1 and forms a ternary complex and may sustain the structure of the postsynaptic density (PSD). BEGAIN is a novel PSD component associated with the core complex of PSD-95 and SAPAP. Because BEGAIN and SAPAP interact with the same region of PSD-95, BEGAIN and SAPAP may compete for the binding to PSD-95 and cannot interact with PSD-95 simultaneously. The C-terminal region of BEGAIN is involved in the interaction with PSD-95 whereas the N-terminal region has a coiled-coil structure that may interact with other molecules. BEGAIN is specifically expressed in brain and enriched in the PSD fraction. BEGAIN is also expressed in neurons and enriched at synaptic junctions, and is likely involved in the organization of synaptic junction components.

Supplier: Bioss

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q.

Supplier: Bioss

Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules.

Supplier: Bioss

MRPL12 is a component of the 39S subunit of mammalian mitochondrial ribosomes. This protein forms homodimers whereas in prokaryotic ribosomes two L7/L12 dimers and one L10 protein form the L8 protein complex.

Supplier: Bioss

Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II.

Supplier: Bioss

Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II.

Supplier: Bioss

Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II.

Supplier: Bioss

Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.

Supplier: Bioss

MRPL12 is a component of the 39S subunit of mammalian mitochondrial ribosomes. This protein forms homodimers whereas in prokaryotic ribosomes two L7/L12 dimers and one L10 protein form the L8 protein complex.

Supplier: Bioss

Making up nearly 6% of the human genome, chromosome 6 contains around 1200 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 histocompatibility 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. The C6orf134 gene product has been provisionally designated C6orf134 pending further characterisation.

Supplier: Bioss

ADH6 (alcohol dehydrogenase 6), also known as ADH-5, is a 368 amino acid member of the class V zinc-containing alcohol dehydrogenase family. This family of enzymes functions to metabolize a wide variety of substrates such as retinol, hydroxysteroids, ethanol, aliphatic alcohols and lipid peroxidation products. Localized to the cytoplasm and expressed in the stomach and liver, ADH6 catalyzes the reversible oxidation of alcohols to their corresponding aldehydes or ketones and is able to bind two zinc ions as cofactors. ADH6 contains a glucocorticoid response element upstream of its 5' UTR which is thought to be a steroid binding site, suggesting that expression of ADH6 may be under hormonal control. Multiple isoforms of ADH6 exist due to alternative splicing events.

Supplier: Bioss

ADH6 (alcohol dehydrogenase 6), also known as ADH-5, is a 368 amino acid member of the class V zinc-containing alcohol dehydrogenase family. This family of enzymes functions to metabolize a wide variety of substrates such as retinol, hydroxysteroids, ethanol, aliphatic alcohols and lipid peroxidation products. Localized to the cytoplasm and expressed in the stomach and liver, ADH6 catalyzes the reversible oxidation of alcohols to their corresponding aldehydes or ketones and is able to bind two zinc ions as cofactors. ADH6 contains a glucocorticoid response element upstream of its 5' UTR which is thought to be a steroid binding site, suggesting that expression of ADH6 may be under hormonal control. Multiple isoforms of ADH6 exist due to alternative splicing events.

Supplier: Bioss

ADH6 (alcohol dehydrogenase 6), also known as ADH-5, is a 368 amino acid member of the class V zinc-containing alcohol dehydrogenase family. This family of enzymes functions to metabolize a wide variety of substrates such as retinol, hydroxysteroids, ethanol, aliphatic alcohols and lipid peroxidation products. localised to the cytoplasm and expressed in the stomach and liver, ADH6 catalyses the reversible oxidation of alcohols to their corresponding aldehydes or ketones and is able to bind two zinc ions as cofactors. ADH6 contains a glucocorticoid response element upstream of its 5' UTR which is thought to be a steroid binding site, suggesting that expression of ADH6 may be under hormonal control. Multiple isoforms of ADH6 exist due to alternative splicing events.

Supplier: Bioss

MISR II is a 573 amino acid protein encoded by the human gene AMHR2. MISR II belongs to the protein kinase superfamily, TKL Ser/Thr protein kinase family, TGFB receptor subfamily and contains one protein kinase domain. Upon ligand binding, MISR II forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. These type II receptors rylate and activate type I receptors which autophosphorylate, then bind and activate Smad transcriptional regulators. MISR II also acts as a receptor for anti-Muellerian hormone. Defects in AMHR2 are the cause of persistent Muellerian duct syndrome type 2 (PMDS-2). PMDS-2 is a form of male pseudo-hermaphroditism characterized by a failure of Muellerian duct regression in otherwise normal males.

Supplier: Bioss

The cystatin superfamily is a well-established family of cysteine protease inhibitors. Cystatins A and B (type 1) are mainly intracellular; cystatins C, D, E/M, F, G, S, SN and SA cystatins are extracellular (type 2); and the kininogens are type 3 cystatins which are intravascular proteins. All true cystatins inhibit cysteine peptidases of the papain family, such as cathepsins, and some also inhibit legumain family enzymes. Cystatin SA, cystatin S and cystatin SN are found primarily in saliva. Cystatin S and SN can also be expressed in tears, urine and seminal fluid. Cystatin C is a related protein which is expressed in brain, thymus, ovary, epididymis and vas deferens. Cystatin D protects against proteinases in the oral cavity, while Cystatin E/M and F moderate the inhibition of cathepsin proteins. The fetuins, part of the cystatin superfamily, are secretable proteins that influence osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors and the response to systemic inflammation. High molecular weight kininogen (Kininogen HC) and low molecular weight kininogen (Kininogen LC) have varied roles, though they both inhibit the thrombin- and plasmin-induced aggregation of thrombocytes.

Supplier: Bioss

The cystatin superfamily is a well-established family of cysteine protease inhibitors. Cystatins A and B (type 1) are mainly intracellular; cystatins C, D, E/M, F, G, S, SN and SA cystatins are extracellular (type 2); and the kininogens are type 3 cystatins which are intravascular proteins. All true cystatins inhibit cysteine peptidases of the papain family, such as cathepsins, and some also inhibit legumain family enzymes. Cystatin SA, cystatin S and cystatin SN are found primarily in saliva. Cystatin S and SN can also be expressed in tears, urine and seminal fluid. Cystatin C is a related protein which is expressed in brain, thymus, ovary, epididymis and vas deferens. Cystatin D protects against proteinases in the oral cavity, while Cystatin E/M and F moderate the inhibition of cathepsin proteins. The fetuins, part of the cystatin superfamily, are secretable proteins that influence osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors and the response to systemic inflammation. High molecular weight kininogen (Kininogen HC) and low molecular weight kininogen (Kininogen LC) have varied roles, though they both inhibit the thrombin- and plasmin-induced aggregation of thrombocytes.

Supplier: Bioss

Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376'. Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels.

Supplier: Bioss

Hexamethylene bis-acetamide inducible 1 (HEXIM1) and Hexamethylene bis-acetamide inducible 2 (HEXIM2) comprise a family of proteins which inhibit positive transcription elongation factor b (P-TEFb) through association with 7SK. P-TEFb is composed of a catalytic subunit, Cdk9, and either Cyclin T1 or T2 as a regulatory subunit. This complex regulates eukaryotic gene expression at the level of elongation. The C-terminal domains of HEXIM proteins interact directly with each other. Via these domains, HEXIM1 and HEXIM2 form stable homo- and hetero-oligomers, which may aid in the formation of the 7SK small nuclear ribonucleic acid particle. Despite their similar functions, HEXIM1 and HEXIM2 exhibit distinct expression patterns in various established cell lines and human tissues.

Supplier: Bioss

Hexamethylene bis-acetamide inducible 1 (HEXIM1) and Hexamethylene bis-acetamide inducible 2 (HEXIM2) comprise a family of proteins which inhibit positive transcription elongation factor b (P-TEFb) through association with 7SK. P-TEFb is composed of a catalytic subunit, Cdk9, and either Cyclin T1 or T2 as a regulatory subunit. This complex regulates eukaryotic gene expression at the level of elongation. The C-terminal domains of HEXIM proteins interact directly with each other. Via these domains, HEXIM1 and HEXIM2 form stable homo- and hetero-oligomers, which may aid in the formation of the 7SK small nuclear ribonucleic acid particle. Despite their similar functions, HEXIM1 and HEXIM2 exhibit distinct expression patterns in various established cell lines and human tissues.