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Description:
APOBEC proteins inhibit retroviruses by deaminating cytosine residues of viral RNA and DNA. The seven APOBEC3 genes or pseudogenes are found in a cluster thought to result from gene duplication on chromosome 22. Like APOBEC3G, APOBEC3F deaminates deoxycytosine to deoxyuracil in the minus strand of HIV-1 DNA, resulting in G to A hypermutation in the plus strand of DNA. Thus, APOBEC3G and APOBEC3F provide a mechanism for innate immunity to retroviruses, and are also likely contribute to sequence variation observed in many viruses. Viral infectivity factor (Vif) imparts APOBEC3G and APOBEC3F resistance to HIV through impaired translation of their mRNA and accelerated posttranslational degradation of the APOBEC3 proteins by the 26S proteasome. Interestingly, HIV-1 Vif cannot form a complex with APOBEC3G or APOBEC3F of mouse origin as it does with the human protein, and thus mouse APOBEC3G and APOBEC3F function as a potent inhibitors of wildtype HIV-1 replication, where human APOBEC3G and APOBEC3F are only able to inhibit Vif-deficient HIV-1 replication. This implies that induction of APOBEC3G and APOBEC3F activity or a method of blocking their interaction with Vif may provide a method for therapeutic intervention.
Description:
LRRFIP2 is a 721 amino acid protein that belongs to the LRRFIP family. Ubiquitously expressed, LRRFIP2 acts as an activator of the Wnt signaling pathway and as a positive regulator of NFâ…¹B activity. LRRFIP2 may be involved in regulating cytokine production in macrophages, suggesting a functional role in the TLR4-mediated inflammatory response. Three isoforms of LRRFIP2 exists due to alternative splicing events.
Description:
LRRFIP2 is a 721 amino acid protein that belongs to the LRRFIP family. Ubiquitously expressed, LRRFIP2 acts as an activator of the Wnt Signalling pathway and as a positive regulator of NF_B activity. LRRFIP2 may be involved in regulating cytokine production in macrophages, suggesting a functional role in the TLR4-mediated inflammatory response. Three isoforms of LRRFIP2 exists due to alternative splicing events.
Description:
APOBEC2 is a 224 amino acid protein that belongs to the cytidine and deoxycytidylate deaminase family. Expressed exclusively in heart and skeletal muscle, APOBEC2 is thought to be a probable C (cytidine) to U (uridine) editing enzyme. However, unlike other members of the family, such as APOBEC1, which mediates the editing of apolipoprotein (apo) B mRNA, APOBEC2 does not display any detectable apoB mRNA editing activity. Also, APOBEC2 has been shown to have low, but definite, intrinsic cytidine deaminase activity.
Description:
TSPAN3 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described.
Description:
TSPAN3 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Two alternative transcripts encoding different isoforms have been described.
Description:
Act as a chaperone to prevent the harmful aggregation of alpha-hemoglobin during normal erythroid cell development. Specifically protects free alpha-hemoglobin from precipitation. It is predicted to modulate pathological states of alpha-hemoglobin excess such as beta-thalassemia.
Description:
The Makorins are a family of putative ribonucleoproteins containing two to four C3H zinc fingers that may confer RNA-binding. In addition, they contain a C3HC4 RING zinc finger that allows them to function as E3 ubiquitin ligases. Makorin-2, also known as RNF62, HSPC070 or MKRN2, is a widely expressed, evolutionarily conserved protein with four C3H-type zinc fingers (three at the N-terminus and one at the C-terminus), one RING-type zinc finger and a cysteine and histidine motif similar to that found in Makorin-1. In Xenopus, Makorin-2 functions, via PI 3-kinase/Akt signaling, as a negative regulator of neurogenesis. In humans, Makorin-2 is overexpressed in various cancer cell lines, suggesting a possible role of Makorin-2 in tumor progression. In addition, Makorin-2 is co-expressed with Raf-1 in the same tissues and cell lines.
Description:
AMP deaminase plays a critical role in energy metabolism.Involvement in diseaseDefects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.
Description:
APOBEC proteins inhibit retroviruses by deaminating cytosine residues of viral RNA and DNA. The seven APOBEC3 genes or pseudogenes are found in a cluster thought to result from gene duplication on chromosome 22. Like APOBEC3G, APOBEC3F deaminates deoxycytosine to deoxyuracil in the minus strand of HIV-1 DNA, resulting in G to A hypermutation in the plus strand of DNA. Thus, APOBEC3G and APOBEC3F provide a mechanism for innate immunity to retroviruses, and are also likely contribute to sequence variation observed in many viruses. Viral infectivity factor (Vif) imparts APOBEC3G and APOBEC3F resistance to HIV through impaired translation of their mRNA and accelerated posttranslational degradation of the APOBEC3 proteins by the 26S proteasome. Interestingly, HIV-1 Vif cannot form a complex with APOBEC3G or APOBEC3F of mouse origin as it does with the human protein, and thus mouse APOBEC3G and APOBEC3F function as a potent inhibitors of wildtype HIV-1 replication, where human APOBEC3G and APOBEC3F are only able to inhibit Vif-deficient HIV-1 replication. This implies that induction of APOBEC3G and APOBEC3F activity or a method of blocking their interaction with Vif may provide a method for therapeutic intervention.
Description:
RNF20 is an E3 ubiquitin ligase protein that mediates monoubiquitination of histone H2B and the methylation of histone H3. It forms a ubiquitin ligase complex in cooperation with the E2 enzyme UBE2E1/UBCH6. It thereby plays a central role in histone code and gene regulation. It is required for transcriptional activation of Hox genes. It is recruited to the MDM2 promoter, probably by being recruited by p53/TP53, and thereby acts as a transcriptional coactivator.
Description:
HEM1 is a 1,127 amino acid single-pass membrane protein that localizes to the cytoplasmic side of the cell membrane. One of several members of the highly conserved HEM family of tissue-specific transmembrane proteins, HEM1 is expressed in cells of hematopoietic origin where it is thought to play an important role in oogenesis. The gene encoding HEM1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
Description:
HEM1 is a 1,127 amino acid single-pass membrane protein that localizes to the cytoplasmic side of the cell membrane. One of several members of the highly conserved HEM family of tissue-specific transmembrane proteins, HEM1 is expressed in cells of hematopoietic origin where it is thought to play an important role in oogenesis. The gene encoding HEM1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
Description:
HEM1 is a 1,127 amino acid single-pass membrane protein that localizes to the cytoplasmic side of the cell membrane. One of several members of the highly conserved HEM family of tissue-specific transmembrane proteins, HEM1 is expressed in cells of hematopoietic origin where it is thought to play an important role in oogenesis. The gene encoding HEM1 maps to human chromosome 12, which encodes over 1,100 genes and comprises approximately 4.5% of the human genome. Chromosome 12 is associated with a variety of diseases and afflictions, including hypochondrogenesis, achondrogenesis, Kniest dysplasia, Noonan syndrome and Trisomy 12p, which causes facial developmental defects and seizure disorders.
Description:
The Ras-related superfamily of guanine nucleotide binding proteins includes the R-Ras, Rap, Ral/Rec and Rho/Rab subfamilies. Increasing data suggests an important role for Rab proteins in either endocytosis or in biosynthetic protein transport. The process of transporting newly synthesized proteins from the endoplasmic reticulum to various stacks of the Golgi complex and to secretory vesicles involves the movement of carrier vesicles and requires Rab protein function. Rab proteins are also an integral part of endocytic pathways. Rab 23, also known as HSPC137, is a 237 amino acid member of the Rab family of proteins and localizes to the cytoplasmic side of the cell membrane. Rab 23 is believed to play a role in intracellular protein transportation and signal transduction mediated by small GTPases. Mutations in the gene encoding Rab 23 may result in Carpenter syndrome, also known as ACPS2 (acrocephalopolysyndactyly type 2), a condition characterized by obesity, cardiac defects, polysyndactyly and craniosynostosis.
Description:
Microtubules, the primary component of the cytoskeletal network, interact with proteins called microtubule-associated proteins (MAPs).MAP9 is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis.The microtubule-associated proteins can be divided into two groups, structural and dynamic. The MAP proteins function to stimulate tubulin assembly, enhance microtubule stability, influence the spatial distribution of microtubules within cells and utilise microtubule polarity to translocate cellular components. MAP-9 (microtubule-associated protein 9), also known as ASAP, is a 647 amino acid cytoplasmic protein that is constitutively expressed during the cell cycle. MAP-9 localises to microtubules in interphase, associates with the mitotic spindle during mitosis and localises to the central body during cytokinesis. Involved in organisation of the bipolar mitotic spindle, MAP-9 is required for bipolar spindle assembly, mitosis progression and cytokinesis. MAP-9 may be involved in stabilising interphase microtubules. Two isoforms of MAP-9 are produced due to alternative splicing events.
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