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Description:
Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf13 gene product has been provisionally designated C7orf13 pending further characterisation.
Description:
Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterised by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. The C7orf25 gene product has been provisionally designated C7orf25 pending further characterisation.
Description:
GPR180 is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling.
Description:
The insulin receptor related receptor (IRR) is a heterotetrameric transmembrane receptor composed of two alpha and 2 beta chains linked by disulfide bonds. The alpha chains contribute to the formation of the ligand-binding domain, while the beta chains carry the kinase domain. Member of the insulin RTK family, IRR shares high homology with the insulin (IR) and the insulin-like growth factor-1 receptor (IGF-1R), but doesn’t bind any of IR and IGF-1R known ligands. In contrast to the widespread patterns of expression to IR and IGF-1R, IRR demonstrates a very restricted cellular distribution in a subset of tissues of neuronal origin and its biological functions are still unknown.
Description:
PYK2 is involved in calcium induced regulation of ion channel and activation of the map kinase signaling pathway. PKY2 may represent an important signaling intermediate between neuropeptide activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. Interacts with the SH2 domain of Grb2. May phosphorylate the voltage gated potassium channel protein Kv1.2. PYK2 activation is highly correlated with the stimulation of c-Jun N-terminal kinase activity.
Description:
CtBP1 associates in complexes with histone deacetylases (HDAC), the G9a histone methyltransferase, and LSD1 histone demethylase illustrating its role in transcriptional repression. Through its association with centrosomes, CtBP1 appears to also play a role in mitosis and Golgi complex organization.
Description:
Netrin proteins are a family of laminin-related secreted proteins that provide guidance signals for axonal growth and cell migration during development. Netrin-1, which is the mammalian homolog of UNC-6 from C. elegans, is largely expressed in the developing nervous system and in mesodermal tissues. Netrin-1 is expressed by the floor plate as either a cell associated protein or in a diffusible form, and it binds to several surface receptor components, including deleted in colorectal cancer (DCC) and neogenin. During embryonic development, netrin-1 diffuses through the neuronal epithelium, where it forms a chemoattractant gradient that directs axonal migration to the ventral midline of the spinal cord. Netrin-2 and the corresponding mouse homolog netrin-3 are expressed primarily in the lower two-thirds of the spinal cord, and, like netrin-1, they can either attract or repel commissural axons at a distance. Netrin signaling is dependent on the concentration of calcium outside the cell and the level of PKA activity. In axonal cells, a reduction in PKA activity converts the responsiveness of the axons to the netrin proteins, as the cells are repelled, rather than attracted, by the netrin gradient.
Description:
Trimming of glucoses from N-linked core glycans on newly synthesized glycoproteins occurs sequentially through the action of Glucosidases I and II in the endoplasmic reticulum (ER). Glucosidase II is an ER-localized enzyme that contains a and b subunits (Glucosidase IIa and Glucosidase IIb) which form a defined heterodimeric complex. Glucosidase IIa is the catalyitc core of the enzyme and can function independently of the b subunit. The sequence of Glucosidase IIb encodes protein rich in glutamic and aspartic acid with a putative ER retention signal (HDEL) at the C-terminus. The phosphorylated form of Glucosidase IIb is localized in the plasma membrane and is highly expressed in FGF-stimulated fibroblasts and epidermal carcinoma cells. Glucosidase IIb was first purified from a human carcinoma cell line as a potential substrate for protein kinase C. Through the HDEL signal at the C-terminus, Glucosidase IIb retains the complete complex in the ER.
Description:
May play a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells. Isoform 2 may possess an antiapoptotic effect and protect cells during normal cell survival through its regulation of caspases.
Description:
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).
Description:
ASAP3 is a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion.
Description:
This gene encodes a member of the "fused gene" family of proteins, which contain N terminus EF hand domains and multiple tandem peptide repeats. The encoded protein contains two EF hand Ca2+ binding domains in its N terminus and two glutamine and threonine rich 60 amino acid repeats in its C terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation.
Description:
Receptor for a number of inflammatory CC-chemokines including MIP-1-alpha, MIP-1-beta and RANTES and subsequently transduces a signal by increasing the intracellular calcium ion level. May play a role in the control of granulocytic lineage proliferation or differentiation. Acts as a coreceptor (CD4 being the primary receptor) for HIV-1 R5 isolates.
Description:
Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
Description:
Iron-sulfur protein (IP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
Description:
The cell division control protein cdc2, also known as cyclin dependent kinase 1 (Cdk1) or p34/cdk1, plays a key role in the control of the eukaryotic cell cycle, where it is required for entry into S phase and mitosis. Cdc2 exists as a complex with both cyclin A and cyclin B. The best characterized of these associations is the Cdc2 p34 cyclin B complex, which is required for the G2 to M phase transition. Activation of Cdc2 is controlled at several steps including cyclin binding and phosphorylation of threonine 161. However, the critical regulatory step in activating cdc2 during progression into mitosis appears to be dephosphorylation of Tyr15 and Tyr14. Phosphorylation at Tyr15 and inhibition of Cdc2 is carried out by WEE1 and MIK protein kinases while Tyr15 dephosphorylation and activation of Cdc2 is carried out by the cdc25 phosphatase. The isoform CDC2deltaT is found in breast cancer tissues. Furthermore, cdc2/Cdk1 is a key mediator of neuronal cell death in brain development and degeneration.
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