Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
CASP3 wt Allele	NCIT_C49553	[Human CASP3 wild-type allele is located within 4q34 and is approximately 22 kb in length. This allele, which encodes caspase-3 protein, is involved in the activation of caspase-dependent apoptosis via proteolytic cleavage of poly (ADP-ribose) polymerase as well as caspases 6, 7 and 9.]
CASP3 Gene	NCIT_C26574	[This gene plays a role in the execution phase of apoptosis and is involved in DNA repair.]
Guanylin	NCIT_C126517	[Guanylin (115 aa, ~12 kDa) is encoded by the human GUCA2A gene. This protein plays a role in the activation of intestinal guanylate cyclase.]
Ileum	NCIT_C12387	[The final section of the small intestine.]
Colon	NCIT_C12382	[The part of the large intestine measured from the cecum to the rectum consisting of ascending, transverse, descending and sigmoid portions. The purpose of the colon is to remove water from digested food prior to excretion.]
CASP4 wt Allele	NCIT_C49554	[Human CASP4 wild-type allele is located within 11q22.2-q22.3 and is approximately 27 kb in length. This allele, which encodes caspase-4 protein, plays a role in the activation of caspase-1 during apoptosis.]
CASP4 Gene	NCIT_C28429	[This gene is involved in the promotion of apoptosis.]
GNAS Gene	NCIT_C38317	[This gene plays a role in signal transduction and is associated with pituitary tumors.]
Sortilin-Related Receptor	NCIT_C126511	[Sortilin-related receptor (2214 aa, ~248 kDa) is encoded by the human SORL1 gene. This protein is involved in both endocytosis and protein trafficking.]
C11orf95 Gene	NCIT_C126512	[The function of this gene is not known.]
C11orf95 wt Allele	NCIT_C126513	[Human C11orf95 wild-type allele is located in the vicinity of 11q13 and is approximately 9 kb in length. This allele, which encodes uncharacterized protein C11orf95, has no known function. A chromosomal aberration, t(11;16)(q13;p13), involving this gene and the MKL2 gene may be associated with chondroid lipomas. A chromosomal aberration involving this gene and the RELA gene is associated with more than two-thirds of supratentorial ependymomas.]
C3 wt Allele	NCIT_C49550	[Human C3 wild-type allele is located within 19p13.3-p13.2 and is approximately 43 kb in length. This allele, which encodes complement C3 protein, plays a critical role in the activation of complement system.]
C3 Gene	NCIT_C21521	[This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.]
Uncharacterized Protein C11orf95	NCIT_C126514	[Uncharacterized protein C11orf95 (678 aa, ~73 kDa) is encoded by the human C11orf95 gene. The exact function for this protein is not known.]
Proline-Rich Domain	NCIT_C14106	[Proline-Rich Domains may be involved in heterotypic protein-protein interactions in signal transduction or other pathways. Found in signaling and structural proteins, WW domains are composed of approximately 40 amino acids folded as a stable, triple stranded beta-sheet that recognize proline-rich sequences. Some WW domains show a remarkable similarity to SH3 domains, which also appear to recognize some proline-rich sequences. Ena/VASP (Drosophila Enabled/Vasodilator-Stimulated Phosphoprotein) Family members regulate actin filament assembly, often through association with binding partners that display a proline-rich FPPPP motif. Ena/VASP proteins interact with these partners via the highly conserved Ena/VASP homology 1 (EVH1) domain. (NCI)]
SORL1 wt Allele	NCIT_C126510	[Human SORL1 wild-type allele is located within 11q23.2-q24.2 and is approximately 182 kb in length. This allele, which encodes sortilin-related receptor protein, plays a role in both intracellular protein sorting and endocytosis of lipoproteins and enzymes. Mutation of the gene may be associated with Alzheimer disease.]
SORL1 Gene	NCIT_C126509	[This gene is involved in both endocytosis and protein sorting.]
PTPRJ wt Allele	NCIT_C49537	[Human PTPRJ wild-type allele is located in the vicinity of 11p11.2 and is approximately 188 kb in length. This allele, which encodes receptor-type tyrosine-protein phosphatase eta protein, is involved in the dephosphorylation of protein-tyrosine phosphates. Defects in the PTPRJ gene are associated with several types of cancer such as breast, colon and lung cancers.]
PTPRJ Gene	NCIT_C24714	[This gene plays a role in the negative regulation of T cell receptor signaling.]
SFN wt Allele	NCIT_C49538	[Human SFN wild-type allele is located in the vicinity of 1p36.11 and is approximately 1 kb in length. This allele, which encodes 14-3-3 protein sigma protein, is involved in cell cycle arrest at the G2/M phase of the cell cycle.]