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HES7 is a 225 amino acid transcriptional repressor protein. localised to the nucleus, HES7 represses transcription of N box- and E box-containing promoters. HES7, along with family member HES1, is thought to cooperatively regulate somite formation in the presomitic mesoderm. HES7 may also be essential for coordinated somite segmentation by acting as a segmentation clock. HES7 contains one basic helix-loop-helix (bHLH) domain and one orange domain. Mutations in HES7 have been found to cause spondylocostal dysostosis, an autosomal recessive disorder characterised by deformities of the chest and spine.

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APPBP1 is a member of the ubiquitin-activating E1 family. In fetal tissues APPBP1 is widely expressed and in adult tissues it is expressed throughout the brain. APPBP1 is a cell membrane associated protein and functions as the regulatory subunit in a heterodimer with UBA3. The APPBP1/UBA3 complex binds to and activates NEDD8, a ubiquitin-like protein involved in signal transduction, cell proliferation and development. This suggests that APPBP1 affects a variety of cellular functions. In addition, APPBP1 is essential for cell cycle progression through the S/M checkpoint. More specifically, it inhibits the entry into S phase and promotes entry into M phase.

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The GAT1 gene family includes sodium- and chloride-dependent plasma membrane transporters for neurotransmitters, metabolites and osmolites, which couple substrate flux to transmembrane electrochemical gradients. PROT (Sodium-dependent proline transporter), also known as Solute carrier family 6 member 7, is a 636 amino acid multi-pass membrane protein that is a GAT1 family member specifically expressed in regions of the brain. PROT terminates the action of proline by its high affinity sodium/chloride-dependent reuptake into pre-synaptic terminals. Enriched in glutamatergic synaptic terminals, it is likely that PROT plays an important role in excitatory events of neurotransmission. PROT-mediated proline uptake is inhibited by compounds such as benztropine, LP-403812 and Des-Tyr-Leu-enkephalin (GGFL). These inhibitors of proline uptake may lead to the development of therapeutic agents for certain neurologic disorders.

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The sodium-coupled neutral amino acid transporters (SNAT) of the SLC38 gene family include System A subtypes SNAT1, SNAT2 and SNAT4 and System N subtypes SNAT3 and SNAT5. The SLC38 transporters are essential for the uptake of nutrients, energy production, metabolism, detoxification, and the cycling of neurotransmitters. SNAT2, also designated ATA2, PRO1068 and SAT2 is encoded by the human gene SLC38A2. The functional role of SNAT2 in the nervous system is unclear. Protein expression is notably enriched in the spinal cord and brain stem nuclei of the auditory system. System A transport proteins are also present in placental tissue. These SNAT proteins may play a significant role in fetal development and inhibition of the transport system has been associated with fetal growth retardation.

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PRE7 is a subunit of the Yeast proteasome. The yeast proteasome seems to be composed of 14 different subunits which form a highly ordered ring-shaped structure. The proteasome degrades poly-ubiquitinated proteins in the cytoplasm and in the nucleus. It is essential for the regulated turnover of proteins and for the removal of misfolded proteins.

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PRE7 is a subunit of the Yeast proteasome. The yeast proteasome seems to be composed of 14 different subunits which form a highly ordered ring-shaped structure. The proteasome degrades poly-ubiquitinated proteins in the cytoplasm and in the nucleus. It is essential for the regulated turnover of proteins and for the removal of misfolded proteins.

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Cathelicidins are a family of antimicrobial proteins found in the peroxidase-negative granules of neutrophils. Along with the family of proteins known as defensins, cathelicidins participate in the first line of defence by preventing local infection and systemic invasion of microbes. FALL-39 precursor (FALL-39 peptide antibiotic, cationic anti-microbial protein, CAMP, CAP-18, HSD26) is a cathelicidin anti-microbial protein that contains the antibacterial peptide LL-37 (amino acids 134-170). In contrast to the defensins, which are cysteine-rich peptides that fold in -pleated sheets, LL-37 is a cysteine-free peptide that can adopt an amphipathic å-helical conformation. LL-37 binds to bacterial lipopolysaccharides (LPS) and is a potent chemotactic factor for recruiting mast cells to sites of inflammation. LL-37 is present in inflammatory skin diseases that include psoriasis, sub-acute lupus erthematosus, dermatitis and nickel contact hypersensitivity. It is not found in normal skin epidermis. The secreted protein is expressed primarily in bone marrow, testis and neutrophils. The mouse and rat ortholog, CRAMP (cathelin-related antimicrobial peptide), is also part of the cathelicidin family of host defence peptides. These include precursors of potent antimicrobial peptides that direct antimicrobial activity against various microbial pathogens and also activate mesenchymal cells during wound repair. CRAMP is expressed in testis, spleen, stomach and intestine.

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The sodium-coupled neutral amino acid transporters (SNAT) of the SLC38 gene family include System A subtypes SNAT1, SNAT2 and SNAT4 and System N subtypes SNAT3 and SNAT5. The SLC38 transporters are essential for the uptake of nutrients, energy production, metabolism, detoxification, and the cycling of neurotransmitters. SNAT2, also designated ATA2, PRO1068 and SAT2 is encoded by the human gene SLC38A2. The functional role of SNAT2 in the nervous system is unclear. Protein expression is notably enriched in the spinal cord and brain stem nuclei of the auditory system. System A transport proteins are also present in placental tissue. These SNAT proteins may play a significant role in fetal development and inhibition of the transport system has been associated with fetal growth retardation.

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterised by mental retardation and the widespread development of distinctive tumors termed hamartomas. Two different genetic loci have been linked to TSC; one of these loci, the tuberous sclerosis-2 gene (TSC2), encodes a protein called tuberin and the other loci, tuberous sclerosis-1 gene (TSC1), encodes a protein called hamartin. Tuberin and hamartin interact with each other forming a cystoplasmic complex. Hamartin interacts with the ezrin-radixin-moesin (ERM) family of actin-binding proteins and inhibition of hamartin activity results in loss of cell adhesion. Hamartin is present in most adult tissues with strong expression in brain, heart, and kidney.

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The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008].

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This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN.

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The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localised to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterised to date.

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Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

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The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localised to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterised to date.

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Involved in intracellular protein transport probably out of a prevacuolar endosomal compartment. May be involved in the release of components of the bilayered coat from the endosomal membrane. The association with ESCRT-III complex mediates the ATP-dependent disassembly of the ESCRT-III complex. In case of infection, the HIV-1 virus takes advantage of it for budding and exocytic cargos of viral proteins.

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The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localised to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterised to date.

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The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues.

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Required for the cytoplasmic dynein-driven retrograde movement of vesicles and organelles along microtubules. Dynein-dynactin interaction is a key component of the mechanism of axonal transport of vesicles and organelles.Tissue specificity; Brain.Involvement in disease; Defects in DCTN1 are the cause of distal hereditary motor neuronopathy type 7B (HMN7B); also known as progressive lower motor neuron disease (PLMND). HMN7B is a neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.Defects in DCTN1 are a cause of susceptibility to amyotrophic lateral sclerosis (ALS). ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors.Defects in DCTN1 are the cause of Perry syndrome (PERRYS); also called parkinsonism with alveolar hypoventilation and mental depression. Perry syndrome is a neuropsychiatric disorder characterized by mental depression not responsive to antidepressant drugs or electroconvulsive therapy, sleep disturbances, exhaustion and marked weight loss. Parkinsonism develops later and respiratory failure occurred terminally.

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The expression of DUSP1 gene is induced in human skin fibroblasts by oxidative/heat stress and growth factors. It specifies a protein with structural features similar to members of the non-receptor-type protein-tyrosine phosphatase family, and which has significant amino-acid sequence similarity to a Tyr/Ser-protein phosphatase encoded by the late gene H1 of vaccinia virus. The bacterially expressed and purified DUSP1 protein has intrinsic phosphatase activity, and specifically inactivates mitogen-activated protein (MAP) kinase in vitro by the concomitant dephosphorylation of both its phosphothreonine and phosphotyrosine residues.

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CCDC17, also known as FLJ17921 or RP4-697E16.4, is a 622 amino acid protein expressed as four isoforms and encoded by a gene mapping to human chromosome 1. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 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, Parkinsons, 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.

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CCDC17, also known as FLJ17921 or RP4-697E16.4, is a 622 amino acid protein expressed as four isoforms and encoded by a gene mapping to human chromosome 1. Chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 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, Parkinsons, 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.

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KLHL9 is the substrate-specific adapter for a CUL3-based E3 ubiquitin-protein ligase complex. Within this complex, KLHL9 controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis.

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Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that Recognises and hydrolyses a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity.

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May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation.

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The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012].

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Thyroid hormone receptors (TRs) are transcription factors that regulate the expression of specific genes in a hormone-dependent manner. TRIP13 is a transcription factor that interacts with the ligand binding domain of the thyroid receptor (TR) as well as a variety of target genes including human papilloma virus type 16 (HPV16) E1. Unlike most TRIP proteins which function only in the presence of hormones, TRIP13 does not require the presence of thyroid hormone to interact with TR. The association of TRIP13 with (HPV16) E1 suggests that TRIP13 may have tumour suppressor gene function. TRIP13 is a 432 amino acid protein with 2 different isoforms produced by alternative splicing.

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Lass5, or LAG1 longevity assurance homolog 5, is thought to be either a bona fide (dihydro)ceramide synthase or a modulator of its activity. When overexpressed in cells is involved in the production of sphingolipids containing mainly one fatty acid donnor ceramide) in a fumonisin B1-independent manner.

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DNA damage results in the arrest of cell cycle progression, allowing the damaged DNA to be repaired prior to replication. Checkpoints exist at several cell cycle phase transitions to maintain this genetic integrity. Rad9, Rad17, Rad24 and Mec3 are involved in activating the G1 and G2 checkpoints (1–4). Pol2 (also known as Dun2), encoding the catalytic subunit of DNA polymerase epsilon, plays a role in activating the S phase checkpoint (5). The protein kinase Rad53 (also designated Spk1, Mec2 or Sad1) is essential for both G2 and S phase arrest. Activation of Rad53 is regulated by Mec1 (also known as Esr1 and Sad3), a homolog of the human ATM protein (6). Pds1 and Mad2 both regulate checkpoints associated with incomplete spindle replication (7,8). Dun1, another protein kinase, plays a role in transducing the DNA damage signal (9).

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KLHL13 (kelch like 13), also known as BKLHD2 (BTB and kelch domain containing protein 2), is a 604 amino acid protein that contains six Kelch repeats and one BTB/POZ domain. Expressed predominantly in brain, KLHL13 is believed to play a role in protein ubiquitination and may function as a substrate specific adapter of an E3 ubiquitin protein ligase complex. E3 ligases accept a ubiquitin residue from an E2 ubiquitin conjugating enzyme and immediately transfer that residue to a protein that is targeted for degradation. Specifically, KLHL13 interacts with KLHL9 and CUL3, a member of the cullin family of mediators that participate in the selective targeting of proteins for ubiquitin mediated proteolysis. Via its BTB and C terminal Kelch (BACK) motif, KLHL13 is thought to play a role in spatially orientating substrates in the CUL3 ligase.

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Hepatitis B Virus (HBV) infection induces a disease state characterised by liver damage, inflammation and viral persistence. Infection also increases the risk of hepatocellular carcinoma. HBV belongs to the Hepadnaviridae family of viruses. Its genome consists of partially double stranded circular DNA. The DNA is enclosed in a nucleocapsid, or core antigen (HBcAg), which is surrounded by a spherical envelope (surface antigen or HBsAg). The core antigen shares its sequences with the e antigen (HBeAg) but no cross reactivity between the two proteins has been observed. The HBV genome also encodes a DNA polymerase that also acts as a reverse transcriptase. Hepatitis B infection is normally diagnosed from serological tests that detect HBsAg but as the disease progresses this antigen may no longer be present in the blood and tests for HBcAg are used. If HBsAg can be detected in the blood for longer than six months, chronic hepatitis B is diagnosed. The antigenic determinant of the protein moiety of the HBsAg determines specific characteristics of different serotypes and provides the basis of immunodetection. HBsAg has antigenic heterogeneity, specifically, two pairs of sub specific determinants, d/y and w/r allow the following combinations: adw, ayw, adr, ayr.