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Description:
Voltage-gated K+ channels in the plasma membrane control the repolarization and the frequency of action potentials in neurons, muscles and other excitable cells. The KV gene family encodes more than 30 proteins that comprise the subunits of the K+ channels, and they vary in their gating and permeation properties, subcellular distribution and expression patterns. Functional KV channels assemble as tetramers consisting of pore-forming alpha subunits (KV), which include the KV1, KV2, KV3, KV4 and KV9 proteins, and accessory or KV-subunits that modify the gating properties of the coexpressed KV subunits. KV2.2 is a multi-pass membrane protein that regulates the voltage-dependent K+ permeability of excitable membranes. Its tail may be influential in the targeting of the channel to specific subcellular compartments and/or the regulation of channel activity.
Description:
Made up of nearly 146 million bases, chromosome 8 encodes about 800 genes. Translocation of portions of chromosome 8 with amplifications of the c-Myc gene are found in some leukemias and lymphomas, and typically associated with a poor prognosis. Portions of chromosome 8 have been linked to schizophrenia and bipolar disorder. Trisomy 8, also known as Warkany syndrome 2, most often results in early miscarriage but is occasionally seen in a mosaic form in surviving patients who suffer to a varying degree from a number of symptoms including retarded mental and motor development, and certain facial and developmental defects. WRN is a DNA helicase encoded by chromosome 8 and shown defective in those with the early aging disorder Werner syndrome. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome. The FAM135B gene product has been provisionally designated FAM135B pending further characterization.
Description:
Zinc-finger proteins contain DNA-binding domains and have a wide variety of functions, most of which encompass some form of transcriptional activation or repression. The majority of zinc-finger proteins contain a Krüppel-type DNA binding domain and a KRAB domain, which is thought to interact with KAP1, thereby recruiting histone modifying proteins. As a member of the krueppel C2H2-type zinc-finger protein family, ZNF704 is a 412 amino acid nuclear protein that contains one C2H2-type zinc finger. The gene encoding ZNF704 maps to human chromosome 8, which is made up of nearly 146 million bases and encodes about 800 genes. Chromosome 8 is also associated with Pfeiffer syndrome, congenital hypothyroidism and Waardenburg syndrome.
Description:
KAT3B/p300 is a transcriptional adapter protein (300 kDa)which is characterized by three cysteine and histidine rich regions and its C-terminus specifically binds the adenovirus E1A protein. KAT3B and associated proteins are components of TATA-binding protein (TBP)complexes. Protein kinase A mediated CREB phosphorylation results in the binding of CREB to a 265 kDa nuclear protein designated KAT3A/CBP(for CREB-binding protein). KAT3B and KAT3A are homologous to each other.
Description:
KAT3B/p300 is a transcriptional adapter protein (300 kDa)which is characterized by three cysteine and histidine rich regions and its C-terminus specifically binds the adenovirus E1A protein. KAT3B and associated proteins are components of TATA-binding protein (TBP)complexes. Protein kinase A mediated CREB phosphorylation results in the binding of CREB to a 265 kDa nuclear protein designated KAT3A/CBP(for CREB-binding protein). KAT3B and KAT3A are homologous to each other.
Description:
The RING-type zinc finger motif is present in a number of viral and eukaryotic proteins and is made of a conserved cysteine-rich domain that is able to bind two zinc atoms. Proteins that contain this conserved domain are generally involved in the ubiquitination pathway of protein degradation. RNF113B (ring finger protein 113B), also referred to as zinc finger protein 183-like 1, RNF161, MGC26599, bA10G5.1 or ZNF183L1, is a 322 amino acid protein containing one C3H1-type zinc finger and one RING-type zinc finger. The gene encoding RNF113B maps to human chromosome 13, which houses over 400 genes, such as BRCA2 and RB1, and comprises nearly 4% of the human genome. Trisomy 13, also known as Patau syndrome, is deadly and the few who survive past one year suffer from permanent neurologic defects, difficulty eating and vulnerability to serious respiratory infections.
Description:
Atypical homeodomain protein which does not bind DNA and is required to modulate cardiac growth and development. Acts via its interaction with SRF, thereby modulating the expression of SRF-dependent cardiac-specific genes and cardiac development. Prevents SRF-dependent transcription either by inhibiting SRF binding to DNA or by recruiting histone deacetylase (HDAC) proteins that prevent transcription by SRF. Overexpression causes cardiac hypertrophy (By similarity). May act as a tumor suppressor.
Description:
NAD-dependent lysine demalonylase and desuccinylase that specifically removes malonyl and succinyl groups on target proteins. Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting. Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species. Has weak NAD-dependent protein deacetylase activity; however this activity may not be physiologically relevant in vivo. Can deacetylate cytochrome c (CYCS) and a number of other proteins in vitro.
Description:
Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. The protein is involved in regulation of ionic conductances and long term synaptic plasticity. It may play an important role in dephosphorylating substrates such as the postsynaptic density associated Ca (2+)/calmodulin dependent protein kinase II.PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC (PP1C gamma), which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. PPP1R12A and PPP1R12B mediate binding to myosin. PPP1R3A, PPP1R3B, PPP1R3C and PPP1R3D mediate binding to glycogen.
Description:
DDX23 encodes a member of the DEAD box protein family. 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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined.
Description:
Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote polyubiquitination and proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or TP53 contain E3 ubiquitin-protein ligase activity.Involvement in disease: Defects in CUL7 are the cause of 3M syndrome type 1 (3M1). An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.
Description:
GATA1 is a Cys2/Cys2 zinc finger DNA binding protein that is expressed primarily in erythroid, megakaryocytic, mast cells and eosinophilic cells. It belongs to the GATA family of transcription factors. GATA1 is a transcriptional activator which probably serves as a general switch factor for erythroid development. It binds to DNA sites with the consensus sequence [AT]GATA[AG] within regulatory regions of globin genes and of other genes expressed in erythroid cells. The protein also plays an important role in erythroid development by regulating the switch from fetal hemoglobin production to adult hemoglobin.
Description:
Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene.
Description:
The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010].
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