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MKKS | McKusick-Kaufman syndrome; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (570 aa) | |||
DMGDH | dimethylglycine dehydrogenase (866 aa) | |||
SQRDL | sulfide quinone reductase-like (yeast); Catalyzes the oxidation of hydrogen sulfide, with the help of a quinone (By similarity) (450 aa) | |||
BHMT | betaine--homocysteine S-methyltransferase; Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline (406 aa) | |||
CCT5 | chaperonin containing TCP1, subunit 5 (epsilon); Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin (541 aa) | |||
AIFM1 | apoptosis-inducing factor, mitochondrion-associated, 1 (613 aa) | |||
CTBP1 | C-terminal binding protein 1; Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT) differentiation. Corepressor targeting diverse transcription regulators such as GLIS2. Has dehydrogenase activity (440 aa) | |||
CCT2 | chaperonin containing TCP1, subunit 2 (beta); Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin (535 aa) | |||
CTBP2 | C-terminal binding protein 2; Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity) (985 aa) | |||
TCP1 | t-complex 1; Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Known to play a role, in vitro, in the folding of actin and tubulin (556 aa) | |||
PIPOX | pipecolic acid oxidase; Metabolizes sarcosine, L-pipecolic acid and L-proline (390 aa) | |||
SHMT1 | serine hydroxymethyltransferase 1 (soluble); Interconversion of serine and glycine (By similarity) (483 aa) | |||
GCSH | glycine cleavage system protein H (aminomethyl carrier); The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine group of glycine from the P protein to the T protein (173 aa) | |||
SHMT2 | serine hydroxymethyltransferase 2 (mitochondrial); Contributes to the de novo mitochondrial thymidylate biosynthesis pathway. Required to prevent uracil accumulation in mtDNA. Interconversion of serine and glycine. Associates with mitochondrial DNA (504 aa) | |||
HSPD1 | heat shock 60kDa protein 1 (chaperonin); Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (573 aa) | |||
PHGDH | phosphoglycerate dehydrogenase (533 aa) | |||
SARDH | sarcosine dehydrogenase (918 aa) | |||
GNMT | glycine N-methyltransferase; Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine (295 aa) | |||
FAM50B | family with sequence similarity 50, member B (325 aa) | |||
VTI1A | vesicle transport through interaction with t-SNAREs homolog 1A (yeast); V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. Involved in vesicular transport from the late endosomes to the trans-Golgi network. Along with VAMP7, involved in an non- conventional RAB1-dependent traffic route to the cell surface used by KCNIP1 and KCND2. May be involved in increased cytokine secretion associated with [...] (217 aa) | |||
BBS10 | Bardet-Biedl syndrome 10; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation (723 aa) | |||
FAM50A | family with sequence similarity 50, member A; May be a DNA-binding protein or transcriptional factor (339 aa) | |||
AIFM3 | apoptosis-inducing factor, mitochondrion-associated, 3; Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential (605 aa) | |||
VTI1B | vesicle transport through interaction with t-SNAREs homolog 1B (yeast); V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence (232 aa) | |||
ENSG00000260170 | Uncharacterized protein (289 aa) |