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DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Based on studies in Drosophila, the abstrakt gene is widely required during post-transcriptional gene expression.

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ZBP1 encodes a Z-DNA binding protein. Z-DNA formation is a dynamic process, largely controlled by the amount of supercoiling.

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ALX4 may be rendered functionally haploinsufficient by a position effect

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MCM8 is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described.The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the MCM proteins. This protein has been shown to co-immunoprecipitate with MCM4, 6 and 7, which suggests that it may interact with other MCM proteins and play a role in DNA replication. Alternatively spliced transcript variants encoding distinct isoforms have been described.

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ANXA11 is a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain the calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Transcript variants encoding the same isoform have been identified.

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The protein encoded by the MCM6 gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication.The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication.

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RNF12 is a RING-H2 zinc finger protein. It has been shown to be a ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Alternatively spliced transcript variants encoding the same protein have been reported.

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Thrb is high affinity receptor for triiodothyronine.

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Foxd1 is transcription factor required for formation of positional identity in the developing retina, regionalization of the optic chiasm and morphogenesis of the kidney. Mice lacking Foxd1 show disrupted cell identity in the ventrotemporal area of the retina and aberrant morphogenesis of the optic chiasm. Their kidneys remain fused, have a disorganised ureteric tree and fail to ascend to a lumbar position.

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NR1I3 mediates the induction of transcription of cytochrome P450 (CYP) genes by phenobarbital (PB) and PB-type inducers. NR1I3 activation induces hepatic expression of detoxification enzymes and transporters and increases liver size. NR1I3 can also regulate both liver homeostasis and tumorigenesis in response to xenobiotic stresses.

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Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells.

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HOXB13 belongs to the homeobox family. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB

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Hoxa11 belongs to the Abd-B homeobox family and contains 1 homeobox DNA-binding domain. Hoxa11 is a sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

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Vax1 is required for axon guidance and major tract formation in the developing forebrain. It may contribute to the differentiation of the neuroretina, pigmented epithelium and optic stalk.

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A chromosomal aberration involving SUZ12 may be a cause of endometrial stromal tumors. Translocation t (7;17) (p15;q21) with JAZF1 generates the JAZF1-SUZ12 oncogene consisting of the N-terminus part of JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal tumors, except in endometrial stromal sarcomas, where it is rarer.This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. The specific function of this gene has not yet been determined. 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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MXD4 is a member of the MAD gene family. The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues.

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CCRN4L is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector.

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NCOR1 mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p.

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IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53), whereas ASPP1 and ASPP2 are activators of p53.IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.

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FOXJ2 is a fork head factor that is expressed in many adult tissues. In the embryo, FOXJ2 expression showed a very early onset during the cleavage stages of preimplantation development. It is capable of activating transcription from promoters containing its sites

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The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involves the effects of TFIIA on the interaction between TATA-binding protein (TBP) and DNA. ALF is a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology.

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Acetyl-Coenzyme A acetyltransferase 2 is an enzyme involved in lipid metabolism. Reported patients with ACAT2 deficiency have shown severe mental retardation and hypotonus. The ACAT2 gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation.

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BARX1 belongs to the Bar subclass of the homeobox gene family. The function of this gene has not yet been determined; however, studies in the mouse and chick homolog suggest a role in developing teeth and craniofacial mesenchyme of neural crest origin. The role of these homologs implicates the human gene as a candidate for unmapped disorders involving tooth and jaw development.

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Corticotropin Releasing Factor (CRF), a 41 amino acids neuropeptide, belongs to a family of structurally related peptides including urocortin, sauvagine and urotensin I. CRF is critical in the regulation of the pituitary- adrenal gland axis, and in endocrine, autonomic and behavioral responses to stress. CRF is widely distributed in the brain and peripheral nervous system with the highest levels in the hypothalamic paraventricular nucleus.

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TCEA1 is necessary for efficient RNA polymerase II transcription elongation past template-encoded arresting sites. TCEA1 has a role in suppression of transient pausing, which is the most important contribution of TCEA1 to elongation from a stall position. TCEA1 fuse to PLAG1 protein which is overexpressed in epithelial, myoepithelial, and mesenchymal-like tumor cells in tumors.

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Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung.

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TBX5 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene.

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TEAD3 is a member of the transcriptional enhancer factor (TEF) family. The family members contain the TEA/ATTS DNA-binding domain. This member is preferentially expressed in placenta and transactivates the chorionic somatomammotropin gene enhancer.This gene encodes a member of the transcriptional enhancer factor (TEF) family. The family members contain the TEA/ATTS DNA-binding domain. This member is preferentially expressed in placenta and transactivates the chorionic somatomammotropin gene enhancer. The protein is encoded through the use of a non-AUG (ATA) translation initiation codon.

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SUPT5H and its binding partner regulate transcriptional elongation by RNA polymerase II. SPT4 and SPT5 are involved in both 5,6-dichloro-1-beta-D-ribofuranosylbenzimidazole (DRB)-mediated transcriptional inhibition and the activation of transcriptional elongation by the human immunodeficiency virus type 1 (HIV-1) Tat protein.

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ZFP36L1 is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors.