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DISEASES
The following proteins in
Homo sapiens
appear to match your input.
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1) '9606.ENSP00000233146':
MSH2 - DNA mismatch repair protein Msh2; Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a t [...]
[a.k.a. UPI000D1971F5, ENSP00000389452, ENST00000406134]
2) '9606.ENSP00000231790':
MLH1 - DNA mismatch repair protein Mlh1; Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing t [...]
[a.k.a. U17843, MLH1-226, ENST00000673713]
3) '9606.ENSP00000234420':
MSH6 - DNA mismatch repair protein Msh6; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, a [...]
[a.k.a. HPA028446, XP_024308589.1, XP_024308590]
4) '9606.ENSP00000265849':
PMS2 - Mismatch repair endonuclease PMS2; Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MLH1 to form MutL alpha. DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing th [...]
[a.k.a. NP_001308940.1, NM_001322010.1, P54278]
5) '9606.ENSP00000276914':
PLIN2 - Perilipin-2; May be involved in development and maintenance of adipose tissue; Belongs to the perilipin family.
[a.k.a. hsa:123, ADRP, PLIN2_HUMAN]
6) '9606.ENSP00000500891':
MUTYH - Adenine DNA glycosylase; Involved in oxidative DNA damage repair. Initiates repair of A*oxoG to C*G by removing the inappropriately paired adenine base from the DNA backbone. Possesses both adenine and 2-OH-A DNA glycosylase activities. Belongs to the Nth/MutY family.
[a.k.a. MUTYH-202, ADP91065.1, MUTYH-210]
7) '9606.hsa-miR-4671-3p':
- - Sorry, STRING found no proteins by this name in Homo sapiens - -
8) '9606.ENSP00000263735':
EPCAM - Epithelial cell adhesion molecule; May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.
[a.k.a. R-HSA-202733, UPI000173A494, OMIM:185535]
9) '9606.ENSP00000273261':
LRIG1 - Leucine-rich repeats and immunoglobulin-like domains protein 1; Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation.
[a.k.a. LRIG1-207, R-HSA-6807004, R-HSA-6806834]
10) '9606.ENSP00000298552':
TSC1 - Hamartin; In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co- chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1. Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 [...]
[a.k.a. ENST00000642646, LAM, A0A2R8Y5M3]
