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NUCKS1

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The RAF family of signaling proteins has three isoforms: A RAF, RAF 1 and B RAF. These proteins are instrumental in forwarding the stimulus generated by mitogens from monomeric G proteins to the MAP kinase pathway. RAF 1 is known to be downstream of Ras and binds to it by an N terminal noncatalytic domain. This domain is conserved in A RAF and B RAF. 14-3-3 is also known to be an activator of RAFs. Activated RAF directly phosphorylates and activates MEK. A RAF is expressed at a very high concentration in urogenital and kidney tissues.

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Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters. When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation (By similarity).

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With approximately 135 million base pairs and 1,400 genes, chromosome 11 makes up around 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and β thalassemia are caused by HBB gene mutations. Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11. The FAM76B gene product has been provisionally designated FAM76B pending further characterization.

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Members of the BAGE gene family encode antigens that are recognized by cytotoxic T lymphocytes and are also known as CT (cancer/testis) antigens. Generated by juxtacentromeric shuffling of the MLL3 gene, the ancestral BAGE gene was expanded by acrocentric exchanges and/or juxtacentromeric movements. BAGE, also known as B melanoma antigen 1 or cancer/testis antigen 2.1, is a 43 amino acid member of the BAGE family. Generally, BAGE proteins are not expressed in normal tissues, except in testis, but are expressed highly in melanomas, bladder carcinomas, head and neck squamous cell carcinomas, and lung and breast cancer carcinomas. BAGE proteins are not expressed in renal, colorectal and prostatic carcinomas, leukemias and lymphomas.

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CPXCR1 is widely expressed in fetal tissues, including the tongue, mandible and palate with an unknown function. Cleft palate most commonly occurs as a sporadic multifactorial disorder with a clear but difficult to define genetic component. As a semi-dominant disorder, X-linked cleft palate (CPX) provides a useful model to investigate a congenital defect that is little influenced by non-genetic factors.

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HDHD2 (haloacid dehalogenase-like hydrolase domain containing 2) is also known as DKFZp564D1378 and is a 259 amino acid protein that is expressed as two isoforms produced by alternative splicing. HDHD2 belongs to the HAD-like hydrolase superfamily, which contains a group of hydrolase enzymes that differ from the å/∫

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Trophic factor for dopamine neurons. Prevents the 6-hydroxydopamine (6-OHDA)-induced degeneration of dopaminergic neurons. When administered after 6-OHDA-lesioning, restores the dopaminergic function and prevents the degeneration of dopaminergic neurons in substantia nigra (By similarity).

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The small ubiquitin-related modifier (SUMO) proteins, which include SUMO-1, SUMO-2 and SUMO-3, belong to the ubiquitin-like protein family. Like ubiquitin, the SUMO proteins are synthesized as precursor proteins that undergo processing before conjugation to target proteins. Also, both utilize the E1, E2, and E3 cascade enzymes for conjugation. However, SUMO and ubiquitin differ with respect to targeting. Ubiquitination predominantly targets proteins for degradation, whereas sumoylation targets proteins to a variety of cellular processing, including nuclear transport, transcriptional regulation, apoptosis and protein stability. The unconjugated SUMO-1, SUMO-2 and SUMO-3 proteins localize to the nuclear membrane, nuclear bodies and cytoplasm, respectively. SUMO-1 utilizes Ubc9 for conjugation to several target proteins, which include IkBa, MDM2, p53, PML and Ran GAP1. SUMO-2 and SUMO-3 contribute to a greater percentage of protein modification than does SUMO-1, and unlike SUMO-1, they can form polymeric chains. In addition, SUMO-3 regulates b-Amyloid generation and may be critical in the onset or progression of Alzheimer’s disease.

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UTF1 is a 341 amino acid protein that localizes to the nucleus and is subject to post-translational phosphorylation. Associating with the TFIID complex via an interaction with the TATA box binding protein (TFIID), UTF1 binds to the N-terminal region of ATF-2 and, via this binding, acts as a transcriptional coactivator of ATF-2, thereby enhancing transcriptional activity. Human UTF1 shares 64% homology with its mouse counterpart, suggesting a similar role between species. The gene encoding UTF1 maps to human chromosome 10, which houses over 1,200 genes and comprises nearly 4.5% of the human genome. Defects in some of the genes that map to chromosome 10 are associated with Charcot-Marie Tooth disease, Jackson-Weiss syndrome, Usher syndrome, nonsyndromatic deafness, Wolman’s syndrome, Cowden syndrome, multiple endocrine neoplasia type 2 and porphyria.

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Aspartyl/asparaginyl beta-hydroxylase (ASPH) is a widely-expressed type II membrane protein involved in calcium homeostasis. Located in the endoplasmic reticulum, ASPH specifically hydroxylates an Asp or Asn residue in the epidermal growth factor-like (EGF) domains of several proteins, using iron as a cofactor. The ASPH gene encodes 3 proteins, ASPH, Junctin, and Junctate (or Humbug), that differ significantly in their C-terminal domains. These ASPH gene products are expressed as five transcript variants that differ by their roles in calcium storage and release, hydroxylation capabilities, and tissue specificity. While all ASPH variants are expressed in skeletal muscle, only some are detected in heart, brain, pancreas, placenta, lung, liver, and kidney tissues. In the lumen of the endoplasmic reticulum, ASPH can be processed into two different forms.

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Members of the postsynaptic density-95 (PSD-95)/SAP90 family of membrane-associated guanylate kinase (MAGUK) proteins function as multimodular scaffolds that organize protein-signaling complexes at neuronal synapses. PSD-95/SAP90 binds guanylate kinase-associated protein (GKAP), also designated GK domain-binding protein, DAP-1-a, DAP-1-b, PSD-95 binding protein, PSD-95/SAP90 associated protein, or SAPAP, through the guanylate kinase domain. GKAP is expressed widely in neurons of the cortex and hippocampus and in the Purkinje and granule cells of the cerebellum. GKAP is localized specifically in the PSD of glutamatergic synapses, consistent with its direct interaction with PSD-95 family proteins.

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Induces caspases and apoptosis. Counters the protective effect of Bcl-2. The major proteolytic product p15 BID allows the release of cytochrome c.

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The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008].

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The genus Salmonella is a member of the family Enterobacteriaceae. The genus is composed of Gram-negative bacilli that are facultative and flagellated (motile). Salmonellae possess 3 major antigens; the "H" or flagellar antigen (phase 1 & 2), the "O" or somatic antigen (part of the LPS moiety) and the "Vi" or capsular antigen (referred to as "K" in other Enterobacteriaceae). Salmonellae also possess the LPS endotoxin characteristic of Gram-negative bacteria. This LPS is composed of an "O" polysaccharide ("O" antigen) an "R" core and the endotoxic inner "Lipid A". Endotoxins evoke fever and can activate complement, kinin and clotting factors. Until recently the most common cause of food poisoning by Salmonella species was due to S. Typhimurium. As its name suggests, it causes a typhoid-like disease in mice. In humans S. Typhimurium does not cause as severe disease as S. Typhi, and is not normally fatal. The disease is characterized by diarrhea, abdominal cramps, vomiting and nausea, and generally lasts up to 7 days.

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Representing about 2% of human DNA, chromosome 20 consists of approximately 63 million bases and 600 genes. Chromosome 20 contains a region with numerous genes expressed in the epididymis which are thought important for seminal production and some viewed as potential targets for male contraception. The PRNP gene encoding the prion protein associated with spongiform encephalopathies, like Creutzfeldt-Jakob disease, is found on chromosome 20. Amyotrophic lateral sclerosis, spinal muscular atrophy, ring chromosome 20 epilepsy syndrome and Alagille syndrome are also associated with chromosome 20.

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Protocadherins are a large family of cadherin-like cell adhesion proteins that are involved in the establishment and maintenance of neuronal connections in the brain. There are three protocadherin gene clusters, designated alpha, beta and gamma, all of which contain multiple tandemly arranged genes. PCDH8 (protocadherin-8), also known as Arcadlin or PAPC, is a 1,070 amino acid single-pass type I membrane protein that contains six cadherin domains and belongs to the protocadherin family. Localized to the cell membrane and expressed specifically in fetal and adult brain, PCDH8 is thought to play a role in cell adhesion events in the central nervous system (CNS). PCDH8 is inactivated or silenced in breast cancer, suggesting a possible role in tumor suppression. Two isoforms of PCDH8 that differ in their cytoplasmic tails are expressed due to alternative splicing events.

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Together with dynein may be involved in spindle assembly and cytokinesis.Tissue specificity:Ubiquitously expressed. Highly expressed in muscle and pancreas and detected at lower levels in brain.

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HDHD3 (haloacid dehalogenase-like hydrolase domain containing 3) is a 251 amino acid protein that belongs to the HAD-like hydrolase superfamily, which contains a group of hydrolase enzymes that differ from the å/∫ hydrolase family based on structure. This family of hydrolase enzymes includes L-2-haloacid dehalogenase, epoxide hydrolases and phosphatases. HDHD3 is encoded by a gene located on human chromosome 9q32. Chromosome 9 consists of about 145 million bases, 4% of the human genome and encodes nearly 900 genes. Thought to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype.

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Eukaryotic RNA polymerase II mediates the synthesis of mature and functional messenger RNA. This is a multistep process, called the transcription cycle, that includes five stages: preinitiation, promoter, clearance, elongation and termination. Elongation is thought to be a critical stage for the regulation of gene expression. ELL (11-19 lysine-rich leukemia protein), also designated MEN, functions as an RNA polymerase II elongation factor that increases the rate of transcription by suppressing transient pausing by RNA polymerase II. It is also thought to regulate cellular proliferation. ELL is abundantly expressed in peripheral blood leukocytes, skeletal muscle, placenta and testis, with lower expression in spleen, thymus, heart, brain, lung, kidney, liver and ovary. The gene encoding human ELL, which maps to chromosome 19p13.1, is one of several genes that undergo translocation with the MLL gene on chromosome 11q23 in acute myeloid leukemia. MLL (myeloid/lymphoid leukemia, also designated ALL-1 and HRX) regulates embryonal and hematopoietic development.

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The function of RED is currently unknown. The protein encoded by the RED gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2.

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Myb-Related Protein B (MYBL2), a member of the MYB family of transcription factor genes, is a nuclear protein involved in the regulation of cell survival, proliferation, and differentiation. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes.Subunit

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Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth. Induces endothelial cell proliferation, promotes cell migration, inhibits apoptosis and induces permeabilization of blood vessels. Binds to the FLT1/VEGFR1 and KDR/VEGFR2 receptors, heparan sulfate and heparin. NRP1/Neuropilin-1 binds isoforms VEGF-165 and VEGF-145. Isoform VEGF165B binds to KDR but does not activate downstream signaling pathways, does not activate angiogenesis and inhibits tumor growth.

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Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone-sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels.

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In the presence of an appropriate stimulus, accelerates programmed cell death by binding to, and antagonizing the anti-apoptotic action of BCL2.

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C1orf201

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BEND3

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Poly(ADP-ribosylation) is a method of DNA damage-dependent posttranslational modification that helps to rescue injured proliferating cells from cell death. The PARP (poly(ADP-ribose) polymerase) proteins comprise a superfamily of enzymes that functionally modify histones and other nuclear proteins, thereby preventing cell death. PARPs use NAD+ as a substrate to catalytically transfer ADP-ribose residues onto protein acceptors; a process that, when repeated multiple times, leads to the formation of poly(ADPribose) chains on the protein. The presence of these chains alters the function of the target protein and promotes cell survival. PARP proteins are implicated in a variety of diseases, including cancer, neurodegenerative and inflammatory disorders. PARP-16 is a 322 amino acid poly (ADP-ribose) polymerase protein localized to the membrane. Expressed as three isoforms produced by alternative splicing, PARP-16 contains one PARP catalytic domain.

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C15orf2 may be involved in spermatogenesis. Testis-specific in adults.

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Members of the suppressor of cytokine signaling (SOCS) family of proteins contain C-terminal regions of homology called the SOCS box, which serves to couple SOCS proteins and their binding partners with the Elongin B/C complex. Several other families of proteins also contain SOCS boxes, but differ from the SOCS proteins in the type of domain they contain upstream of the SOCS box. The largest family of SOCS box-containing proteins is the ankyrin repeat and SOCS box-containing (ASB) protein family. ASB-7 (ankyrin repeat and SOCS box-containing 7) is a 318 amino acid protein that contains one SOCS box domain and seven ANK repeats and belongs to the ASB family. Existing as multiple alternatively spliced isoforms, ASB-7 functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex and, working in conjunction with other proteins, plays a role in the ubiquitination and subsequent proteasomal degradation of target proteins.