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AQP2 | aquaporin 2 (collecting duct); Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (271 aa) | |||
AQP8 | aquaporin 8; Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea (261 aa) | |||
AQP9 | aquaporin 9; Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol (295 aa) | |||
MIP | major intrinsic protein of lens fiber; Water channel. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity) (263 aa) | |||
SMARCA2 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chrom [...] (1590 aa) | |||
OXSM | 3-oxoacyl-ACP synthase, mitochondrial; May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function (459 aa) | |||
ATP5J2 | ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a [...] (94 aa) | |||
AQP5 | aquaporin 5; Forms a water-specific channel. Implicated in the generation of saliva, tears, and pulmonary secretions (265 aa) | |||
AQP7 | aquaporin 7; Forms a channel for water and glycerol (342 aa) | |||
AQP3 | aquaporin 3 (Gill blood group); Water channel required to promote glycerol permeability and water transport across cell membranes. Acts as a glycerol transporter in skin and plays an important role in regulating SC (stratum corneum) and epidermal glycerol content. Involved in skin hydration, wound healing, and tumorigenesis. Provides kidney medullary collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient. Slightly permeable to urea and may function as a water and urea exit mechanism in antidiuresis in collecting duct ce [...] (292 aa) | |||
ATP5H | ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a [...] (161 aa) | |||
AQP1 | aquaporin 1 (Colton blood group); Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (269 aa) | |||
DNAJA2 | DnaJ (Hsp40) homolog, subfamily A, member 2; Co-chaperone of Hsc70 (412 aa) | |||
AQP10 | aquaporin 10; Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol (301 aa) | |||
AQP6 | aquaporin 6, kidney specific; Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism (By similarity) (282 aa) | |||
LAMP1 | lysosomal-associated membrane protein 1; Presents carbohydrate ligands to selectins. Also implicated in tumor cell metastasis (417 aa) | |||
SMARCA4 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4; Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC repressor complex. Upon calcium influx, RB1 is dephos [...] (1679 aa) | |||
SLC2A6 | solute carrier family 2 (facilitated glucose transporter), member 6; Facilitative glucose transporter; binds cytochalasin B with low affinity (507 aa) | |||
GALE | UDP-galactose-4-epimerase; Catalyzes two distinct but analogous reactions- the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine (348 aa) | |||
DNAJA1 | DnaJ (Hsp40) homolog, subfamily A, member 1; Co-chaperone of Hsc70. Seems to play a role in protein import into mitochondria (397 aa) | |||
AQP4 | aquaporin 4; Forms a water-specific channel. Osmoreceptor which regulates body water balance and mediates water flow within the central nervous system (323 aa) | |||
DNAJA4 | DnaJ (Hsp40) homolog, subfamily A, member 4 (426 aa) | |||
ATP5J | ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a [...] (116 aa) | |||
ENSG00000248919 | ATP5J2-PTCD1 readthrough (749 aa) | |||
ENSG00000250424 | Uncharacterized protein (446 aa) | |||
PTCD1 | pentatricopeptide repeat domain 1; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3’ processing of mitochondrial tRNAs (749 aa) |