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GDE3, also known as glycerophosphodiester phosphodiesterase 3, glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2) or osteoblast differentiation promoting factor (OBDPF), is a 539 amino acid protein belonging to the glycerophosphoryl diester phosphodiesterase family. Possessing glycerophosphoinositol inositolphosphodiesterase activity, GDE3 hydrolyzes glycerophosphoinositol to form inositol 1-phosphate and glycerol, and is suggested to play a role in Actin cytoskeleton remodeling and osteoblast differentiation and growth. A multi-pass membrane protein, GDE3 localizes to cell membrane and cytoplasm, and colocalizes with actin in the cytoskeleton. GDE3 contains one GDPD domain, binds calcium as a cofactor and is encoded by a gene mapping to human chromosome Xq13.1.

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Preferentially catalyzes the dephosphorylation of 'Ser-5' within the tandem 7 residues repeats in the C-terminal domain (CTD) of the largest RNA polymerase II subunit POLR2A. Negatively regulates RNA polymerase II transcription, possibly by controlling the transition from initiation/capping to processive transcript elongation (By similarity). Recruited by REST to neuronal genes that contain RE-1 elements, leading to neuronal gene silencing in non-neuronal cells.

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E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (ELL2, MYB, POU2AF1, PML and RBBP8), a cell surface receptor (DCC), the cell-surface receptor-type tyrosine kinase FLT3, the cytoplasmic signal transduction molecules (KLF10/TIEG1 and NUMB), an antiapoptotic protein (BAG1), a microtubule motor protein (KIF22), a protein involved in synaptic vesicle function in neurons (SYP), a structural protein (CTNNB1) and SNCAIP. Confers constitutive instability to HIPK2 through proteasomal degradation. It is thereby involved in many cellular processes such as apoptosis, tumor suppression, cell cycle, axon guidance, transcription regulation, spermatogenesis and TNF-alpha signaling. Has some overlapping function with SIAH2. Induces apoptosis in cooperation with PEG3. Upon nitric oxid (NO) generation that follows apoptotic stimulation, interacts with S-nitrosylated GAPDH, mediating the translocation of GAPDH to the nucleus. GAPDH acts as a stabilizer of SIAH1, facilitating the degradation of nuclear proteins.

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Sodium-independent transporter of chloride and iodide.

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The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

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The Ras superfamily of GTPases can be subdivided into the Ras, Rho/Rac, Sar, Rab, Arf, Rap and Ran subfamilies, all of which control multiple aspects of cell function, including cytoskeletal rearrangement, nuclear signaling and cell growth. The Ras superfamily of GTPases function as regulated switches that toggle between a biologically active GTP-bound and an inactive GDP-bound form. This activation is catalyzed by guanine nucleotide exchange factors (GEFs). RIC-8A (resistance to inhibitors of cholinesterase 8 homolog A), also known as RIC8 or Synembryn-A, is a 530 amino acid cytoplasmic protein that can activate several G-alpha proteins, including G?i-1, G?q and G?o. Functioning as a guanine nucleotide exchange factor, RIC-8A binds to GDP-associated substrates and exchanges bound GDP for free GTP. Via its ability to stimulate protein function, RIC-8A plays a role in regulating mitotic movement and may be involved in receptor-mediated ERK activation. RIC-8A is expressed as three isoforms due to alternative splicing events.

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SMC4 is a central component of the condensin complex, which is required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.

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OCEL1, is a 264 amino acid protein that is encoded by a gene which maps to human chromosome 19. Chromosome 19, which consists of over 63 million bases, houses approximately 1,400 genes and is recognised for having the greatest gene density of the human chromosomes. It is the genetic home for a number of immunoglobulin (Ig) superfamily members, including the killer cell and leukocyte Ig-like receptors, a number of ICAMs, the CEACAM and PSG family and Fc receptors (FcRs). Key genes for eye color and hair color also map to chromosome 19.

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Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate(GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].

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MYBPC3 encodes the cardiac isoform of the thick-filament myosin-binding protein C. It is found in the crossbridge-bearing zone (C region) of A bands in vertebrate striated muscle. Regulatory phosphorylation of MYBPC3 by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. MYBPC3 binds F-Actin, MHC and native thin filaments, and modifies the activity of Actin-activated myosin ATPase. Mutations in the MYBPC3 gene lead mainly to truncation of the protein, which results in one cause of familial hypertrophic cardiomyopathy type 4 (CMH4), a heart disorder characterised by ventricular hypertrophy, which often involves the interventricular septum and is usually asymmetric. The MYBPC3 gene maps to chromosome 11p11.2.

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ANGEL1 , also known as KIAA0759, is a 670 amino acid protein belonging to the CKR-4 protein family. ANGEL1 is encoded by a gene located on human chromosome 14, which contains about 700 genes and 106 million base pairs, making up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of three key genes associated with the development of Alzheimer's disease. The SERPINA1 gene is located on chromosome 14 and, when defective, leads to the genetic disorder ?-antitrypsin deficiency. This disorder is characterized by severe lung complications and liver dysfunction. Notably, the immunoglobulin heavy chain locus on chromosome 14 and its fusion via translocation with the chromosome 19 encoded protein BCL3 may be related to B-cell malignancies.

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Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinson's, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf96 gene product has been provisionally designated C1orf96 pending further characterisation.

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CCDC112, also known as MBC1 (mutated in bladder cancer 1), is a 446 amino acid protein. The gene encoding CCDC112 is located on chromosome 5. Due to alternative splicing events, CCDC112 exists as two isoforms. Chromosome 5 comprises about 6% of human genomic DNA and contains 181 million base pairs encoding around 1,000 genes. It is associated with Cockayne syndrome through the ERCC8 gene and familial adenomatous polyposis through the adenomatous polyposis coli (APC) tumor suppressor gene. Treacher Collins syndrome is also chromosome 5 associated and is caused by insertions or deletions within the TCOF1 gene. Deletion of the p arm of chromosome 5 leads to Cri du chat syndrome. Deletion of 5q or chromosome 5 altogether is common in therapy-related acute myelogenous leukemias and myelodysplastic syndrome

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This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). [provided by RefSeq, Jul 2008].

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RAB proteins, such as RAB25, are members of the RASsuperfamily of small GTPases that are involved in membranetrafficking. Members of the RAB11 subfamily, including RAB25,control the return of internalized membrane-associated moieties tothe cell surface

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Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro).