The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
May play a role in neuronal cell communication. Lacks nucleotide pyrophosphatase and lysopholipase D activity.
Aminoacyl-tRNA synthetases are a class of enzymes thatcharge tRNAs with their cognate amino acids. The protein encoded bythis gene is a cytoplasmic enzyme which belongs to the class IIfamily of aminoacyl-tRNA synthetases. The enzyme is responsible forthe synthesis of histidyl-transfer RNA, which is essential for theincorporation of histidine into proteins. The gene is located in ahead-to-head orientation with HARSL on chromosome five, where thehomologous genes share a bidirectional promoter. Th
Kallikrein 8 (hK8), also known as neuropsin, brain serine protease 1 (BSP1), tumor associated differentially expressed gene 14 (TADG14), PRSS19, HNP and ovasin, is a trypsin like serine protease. Originally described from mouse brain, KLK8 was implicated in neural plasticity and learning. Kallikrein 8 is thought to be involved in neurite outgrowth and fasciculation during nervous system development. Kallikrein 8 is induced in neurite injury, and Kallikrein 8 has been shown to be elevated in
SNAP 29 is a 258 amino acid protein that localizes to the membrane and the cytoplasm, as well as to the cell junction, and contains one t-SNARE coiled-coil homology domain. Expressed in liver, heart, brain, kidney, placenta, lung, spleen, pancreas and skeletal muscle, SNAP 29 binds tightly to Syntaxins and, via this binding, is involved in membrane trafficking events. Defects in the gene encoding SNAP 29 are the cause of CEDNIK syndrome, a neurocutaneous syndrome that is associated with cere
Transient receptor potential (TRP) proteins are cation-sensitive channels that modulate a myriad of cellular functions, including temperature sensation and vasoregulation Transcribed from a gene adjacent to VR-1, the thermal-sensitive, capsaicin-insensitive TRPV3 is expressed at warm temperatures; expression increases in response to noxious temperatures. Human TRPV3 is expressed in skin, tongue, dorsal root ganglion, trigeminal ganglion, spinal cord and brain. In addition, TRPV3 is co-express