66250 Results for: "affinity chromatography"

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The nuclear orphan receptors NR2C1 represses transcription and binds DNA as a homodimer. NR2C1 binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. NR2C1 may function as a negative modulator to suppress androgen receptor function in prostate cancer. NR2C1 may exert an important repressor in regulating ER activity in mammary glands. The nuclear orphan receptors TR2 (NR2C1) and TR4 form a heterodimer that binds to the epsilon and gamma globin promoter DR1 sites This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor superfamily. This protein also belongs to a large family of ligand-inducible transcription factors that regulate gene expression by binding to specific DNA sequences within promoters of target genes. Multiple alternatively spliced transcript variants have been described, but the full-length nature of some of these variants has not been determined.

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Members of the ETS family of transcription factors, such¡¡as ERF, regulate cell proliferation and differentiation. They share¡¡a highly conserved DNA-binding domain, the ETS domain, that¡¡recognizes the sequence GGAA/T.

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homeobox protein GSH-2

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The specific function of FAM82B is not yet known.

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KCTD3 belongs to the KCTD3 family. It contains 1 BTB (POZ) domain and 5 WD repeats.The exact function of KCTD3 is not known.

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RBM5 is a component of the spliceosome A complex.It regulates alternative splicing of a number of mRNAs. RBM5 may modulate splice site pairing after recruitment of the U1 and U2 snRNPs to the 5' and 3' splice sites of the intron. RBM5 may both positively and negatively regulate aopotosis by regulating the alternative splicing of several genes involved in this process, including FAS and CASP2/caspase-2. In the case of FAS, promotes exclusion of exon 6 thereby producing a soluble form of FAS that inhibits apoptosis. In the case of CASP2/caspase-2, RBM5 promotes exclusion of exon 9 thereby producing a catalytically active form of CASP2/Caspase-2 that induces apoptosis.

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PEX10 is a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in PEX10 gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms.

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This gene is deleted in the primary tumor of hepatocellular carcinoma. It maps to 8p22-p21.3, a region frequently deleted in solid tumors. It is suggested that this gene is a candidate tumor suppressor gene for human liver cancer, as well as for prostate, lung, colorectal, and breast cancers. DLC1 functions as a GTPase-activating protein specific for Rho and an activator of PLCD1 in vivo and induces morphological changes and detachment through cytoskeletal reorganization.

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Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic constituents, including organelles, are sequestered into double-membraned autophagosomes, which subsequently fuse with lysosomes. ATG16L1 is a component of a large protein complex essential for autophagy.Autophagy is the major intracellular degradation system delivering cytoplasmic components to lysosomes, and it accounts for degradation of most long-lived proteins and some organelles. Cytoplasmic constituents, including organelles, are sequestered into double-membraned autophagosomes, which subsequently fuse with lysosomes. ATG16L1 is a component of a large protein complex essential for autophagy (Mizushima et al., 2003 [PubMed 12665549]).

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FUNDC1 belongs to the FUN14 family. The exact function of FUNDC1 remains unknown.

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ZFAT1 may be involved in transcriptional regulation. Overexpression of ZFAT1causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated.

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CASP8AP2 is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis.This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

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POU domain genes encode a family of highly conserved transacting factors that influence the transcriptional activity of several cell type-specific and ubiquitous genes.

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TIPARP is a poly [ADP-ribose] polymerase using NAD+ as a substrate to transfer ADP-ribose onto glutamic acid residues of a protein acceptor; repeated rounds of ADP-ribosylation leads to the formation of poly (ADPribose) chains on the protein, thereby altering the function of the target protein. TIPARP may play a role in the adaptative response to chemical exposure (TCDD) and thereby mediates certain effects of the chemicals.

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ZNF780B belongs to the krueppel C2H2-type zinc-finger protein family. It contains 23 C2H2-type zinc fingers and 1 KRAB domain. ZNF780B may be involved in transcriptional regulation.

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ZNF499 is located on chromosome 19.

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RABGGTA belongs to the protein prenyltransferase subunit alpha family and contains 6 PFTA repeats. RABGGTA catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines in Rab proteins with an -XXCC, -XCXC and -CCXX C-terminal, such as RAB1A, RAB3A and RAB5A respectively.

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FERD3L is an evolutionarily conserved bHLH transcription factor that is identified in fly, mouse and man. Nervous system expression of this protein is detected in fly and mouse.

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The specific function of C20orf160 is not yet known.

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KCNK5 is one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. KCNK5 is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport.

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PWP1 belongs to the WD repeat PWP1 family. It contains 5 WD repeats. PWP1 may play an important role in cell growth and/or transcription.

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ZC3H15 belongs to the ZC3H15/TMA46 family. It contains 2 C3H1-type zinc fingers. ZC3H15 protects DRG1 from proteolytic degradation.

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The YWHAH gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat has been associated with early-onset schizophrenia.This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat has been associated with early-onset schizophrenia. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

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CNN2, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. CNN2 could play a role in smooth muscle contraction and cell adhesion.The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Two transcript variants encoding different isoforms have been found for this gene.

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The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors.

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The exact functions of ATXN7L2 remain unknown.

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The specific function of SIX4 is not yet known.

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TMEM63A is a multi-pass membrane proteinPotential. It belongs to the SPO75/TMEM63 family. The exact function of TMEM63A remains unknown.

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The kelch-repeat protein family is a recently found new kind of actin-binding protein. It is characterized by tandemly arranged motifs of about 50 amino acids. Most members of the kelch-repeat family were cytoskeletal proteins implicated in various cellular processes, such as actin cytoskeleton interaction, cytoplasmic sequestration of transcription factors and cell morphology. During the large-scale sequencing analysis of a human fetal brain cDNA library we found a novel kelch-like protein gene 5, KLHL5, KLHL5 has high identity with Drosophila kelch protein and many other family members. A novel splicing variants of KLHL5, named KLHL5b and the expression pattern of KLHL5b in many tissues.

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B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans. It mediates the N,N'-diacetyllactosediamine formation on gastric mucosa.