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Cyclin dependent kinase 5 (Cdk5) is a key regulator of cell cycle progression in neuronal differentiation that physically associates with and is activated by the neuron-specific protein p35. CDK5RAP1 (CDK5 regulatory subunit-associated protein 1) specifically inhibits Cdk5 activation by p35 through formation of a dimer that inhibits kinase activity. CDK5RAP2, also known as Centrosome-associated protein 215, is a 1893 amino acid centrosomal protein that regulates activity of CDK5 through complex formation with CDK5RAP1. Expressed in placenta, liver, pancreas, heart, skeletal muscle, lung, brain and kidney, CDK5RAP2 associates with centrosomes throughout the cell cycle. Mutations in the gene encoding CDK5RAP2 results in primary microencephaly autosomal recessive type 3, which is characterized by markedly reduced head size, brain weight and significant neurological deficits. There are four isoforms of CDK5RAP2 that are produced as a result of alternative splicing events.

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The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].

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AMP deaminase plays a critical role in energy metabolism. Involvement in diseaseDefects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterised by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.

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Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered 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. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The KIAA1529 gene product has been provisionally designated KIAA1529 pending further characterization.

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Dyskerin (NAP57) associates with the chaperone protein Nopp140 and forms a small ribonucleoprotein particle with GAR1 (NOLA1), NHP2 (NOLA2) and Nop10 for the isomerization of uridine to pseudouridine (1). GAR1, NHP2 and dyskerin localize to the dense fibrillar component of the nucleolus and in nuclear Cajal bodies (2). The dyskerin gene maps to chromosome Xq28 (3). Missense mutations in the dyskerin gene interfere with normal nuclear localization of dyskerin and cause Dyskeratosis congenita (DKC) (4). DKC is a rare, X-linked bone marrow disorder characterized by cutaneous hyperpigmentation, dystrophy of the nails, atrophy of the testicles and leukoplakia of the oral mucosa. The GAR1 gene maps to chromosome 4q25 (5,6). The NHP2 gene maps to chromosome 5q35.3 and encodes a 155-amino acid protein (2,7).

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GTP-binding protein 9 is a 396 amino acid protein that belongs to the Obg-related GTPase family under the translation factors (TRAFAC) class. Originally thought to only have GTPase activity, Obg-related GTPase family members have been shown to also have ATPase activity. In Homo sapians, GTPBP9 exhibits a preference for binding ATP over GTP, with GTP binding occuring only at high nucleotide concentration. One cause for ATP affinity and GTP discrimination is thought to be a substitution of glutamine for a hydrophobic amino acid in Obg-related family members; this is the same substitution that inactivates Ras-like GTPases. GTPBP9 contains a C-terminal TGS domain that binds to ligands and an N-terminal G domain which binds nucleotides. GTPBP9 is expressed as three isoforms produced by alternative splicing.

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Pyridoxal kinase belongs to the pyridoxine kinase family and phosphorylates vitamin B6, a step necessary for the conversion of vitamin B6 to pyridoxal 5’ phosphate (PLP), the active form of vitamin B6. PLP acts as a coenzyme and functions to maintain homeostasis. Pyridoxal kinase is a 312-amino acid cytoplasmic protein that may act as a homodimer and is expressed ubiquitously. There are three known isoforms of pyridoxal kinase, and isoform 3 expression is observed in adult testis and spermatozoa. The optimum pH for pyridoxal kinase is between 5.5 and 6.0. PDXK, the gene that encodes the pyridoxal kinase protein, maps to chromosome 21q22.3 and may be a candidate gene for autoimmune polyglandular disease type 1, a genetic disorder that has been mapped to the same region on chromosome 21.

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Defects in FH are the cause of fumarase deficiency (FHD)also known as fumaricaciduria. FHD is characterized by progressive encephalopathy, developmental delay, hypotonia, cerebral atrophy and lactic and pyruvic acidemia.

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The protein encoded by this gene shares similarity with the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. This gene is located on the opposite strand as the interferon kappa precursor (IFNK) gene. [provided by RefSeq, Jul 2008].

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Plays a central role in autophagy. Required for the abcission step in cytokinesis. May play a role in antiviral host defense. Protects against infection by a neurovirulent strain of Sindbis virus.

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Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppresses cell proliferation and tumorigenesis by inhibiting the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.

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C14orf174, is a 674 amino acid protein that contains one SAM (sterile alpha motif) domain. Existing as two alternatively spliced isoforms,C14orf174 is encoded by a gene that maps to human chromosome 14q24.3. Chromosome 14 contains about 700 genes and 106 million base pairs and makes up about 3.5% of human cellular DNA. Chromosome 14 encodes the presinilin 1 (PSEN1) gene, which is one of the 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 is found on chromosome 14 and has been identified as a fusion with the chromosome 19 encoded protein Bcl-3 in the (14;19) translocations found in a variety of B cell malignancies.

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Pin1 is a Peptidyl-prolyl isomerases (PPIase). Peptidyl-prolyl isomerases (PPIase) facilitate the cis-trans interconversion of the peptidyl-prolyl bond thereby affecting protein folding. Pin1 is a PPIase which specifically recognizes phosphorylated S/T-P bonds. Pin1 has been implicated in tau pathologies that underlie Alzheimer's Disease. Pin1 binds to tau phosphorylated specifically on the Thr231-Pro site and induces conformational changes in tau. Such conformational changes can directly restore the ability of phosphorylated Tau to bind microtubules and promote microtubule assembly and/or facilitate tau dephosphorylation. Pin1 expression inversely correlates with the predicted neuronal vulnerability in normally aged brain and also with actual neurofibrillary degeneration in AD brain. Pin1 could be pivotal for maintainance of normal neuronal function and preventing age-dependent neurodegeneration.

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CRELD1 is a protein composed of Epidermal growth factor-like repeats, which represent a group of cysteine-rich domains that mediate interactions between proteins of diverse function. Such domains are found in proteins that are either completely secreted or have transmembrane regions that link the protein to the cell surface.

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UXT is a novel protein, highly conserved in mouse. It interacts with the N terminus of the androgen receptor and plays a role in facilitating receptor-induced transcriptional activation. It is abundantly expressed in tumor tissues and is likely to be involved in tumorigenesis.

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Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation.