anoh-1

Caenorhabditis elegans

Predicted to enable chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to be located in plasma membrane. Expressed in intestine; neurons; and pharyngeal muscle cell. Human ortholog(s) of this gene implicated in several diseases, including Miyoshi muscular dystrophy 3; Moyamoya disease; Scott syndrome; autosomal recessive limb-girdle muscular dystrophy type 2L; and bone disease (multiple). Is an ortholog of human ANO6 (anoctamin 6).

Hs6st3

Homo sapiens

Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]

Hs6st2

Homo sapiens

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Ano6

Homo sapiens

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

Ano6

Rattus norvegicus

Predicted to enable monoatomic ion channel activity; phospholipid scramblase activity; and protein homodimerization activity. Involved in positive regulation of potassium ion export across plasma membrane. Predicted to be located in cytosol. Predicted to be part of chloride channel complex. Predicted to be active in cholinergic synapse and synaptic membrane. Human ortholog(s) of this gene implicated in Scott syndrome; ankylosing spondylitis; and inflammatory bowel disease. Orthologous to human ANO6 (anoctamin 6); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.

Hsbp1

Homo sapiens

The heat-shock response is elicited by exposure of cells to thermal and chemical stress and through the activation of HSFs (heat shock factors) results in the elevated expression of heat-shock induced genes. Heat shock factor binding protein 1 (HSBP1), is a 76-amino-acid protein that binds to heat shock factor 1(HSF1), which is a transcription factor involved in the HS response. During HS response, HSF1 undergoes conformational transition from an inert non-DNA-binding monomer to active functional trimers. HSBP1 is nuclear-localized and interacts with the active trimeric state of HSF1 to negatively regulate HSF1 DNA-binding activity. Overexpression of HSBP1 in mammalian cells represses the transactivation activity of HSF1. When overexpressed in C.elegans HSBP1 has severe effects on survival of the animals after thermal and chemical stress consistent with a role of HSBP1 as a negative regulator of heat shock response. [provided by RefSeq, Jul 2008]

Nherf4

Homo sapiens

Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]

Fgd1

Homo sapiens

This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]

Ahsg

Rattus norvegicus

Enables receptor signaling protein tyrosine kinase inhibitor activity. Involved in several processes, including negative regulation of bone mineralization; negative regulation of insulin receptor signaling pathway; and positive regulation of bone resorption. Located in collagen-containing extracellular matrix and extracellular space. Part of protein-containing complex. Human ortholog(s) of this gene implicated in alopecia-mental retardation syndrome 1; coronary artery disease; and type 2 diabetes mellitus. Orthologous to human AHSG (alpha 2-HS glycoprotein); PARTICIPATES IN Bone morphogenetic proteins signaling pathway; INTERACTS WITH (+)-schisandrin B; 17alpha-ethynylestradiol; 17beta-estradiol.