Page last updated: 2024-10-06

Smith-Magenis and Potocki-Lupski syndrome copy number variation

Proteins (104)

ProteinSynonymsTaxonomy
E3 ubiquitin-protein ligase parkinParkin; EC 2.3.2.31; Parkin RBR E3 ubiquitin-protein ligase; Parkinson juvenile disease protein 2; Parkinson disease protein 2Homo sapiens (human)
PR domain zinc finger protein 1EC 2.1.1.-; BLIMP-1; Beta-interferon gene positive regulatory domain I-binding factor; PR domain-containing protein 1; Positive regulatory domain I-binding factor 1; PRDI-BF1; PRDI-binding factor 1Homo sapiens (human)
COP9 signalosome complex subunit 5SGN5; Signalosome subunit 5; EC 3.4.-.-; Jun activation domain-binding protein 1Homo sapiens (human)
Transcriptional coactivator YAP1Yes-associated protein 1; Protein yorkie homolog; Yes-associated protein YAP65 homologHomo sapiens (human)
Cellular tumor antigen p53Antigen NY-CO-13; Phosphoprotein p53; Tumor suppressor p53Homo sapiens (human)
Amyloid-beta precursor proteinAPP; ABPP; APPI; Alzheimer disease amyloid protein; Amyloid precursor protein; Amyloid-beta A4 protein; Cerebral vascular amyloid peptide; CVAP; PreA4; Protease nexin-II; PN-IIHomo sapiens (human)
Cyclin-dependent kinase 1CDK1; EC 2.7.11.22; EC 2.7.11.23; Cell division control protein 2 homolog; Cell division protein kinase 1; p34 protein kinaseHomo sapiens (human)
Oxysterols receptor LXR-betaLiver X receptor beta; Nuclear receptor NER; Nuclear receptor subfamily 1 group H member 2; Ubiquitously-expressed nuclear receptorHomo sapiens (human)
Transcription factor p65Nuclear factor NF-kappa-B p65 subunit; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 3Homo sapiens (human)
5'-AMP-activated protein kinase catalytic subunit alpha-1AMPK subunit alpha-1; EC 2.7.11.1; Acetyl-CoA carboxylase kinase; ACACA kinase; 2.7.11.27; Hydroxymethylglutaryl-CoA reductase kinase; HMGCR kinase; 2.7.11.31; Tau-protein kinase PRKAA1; 2.7.11.26Homo sapiens (human)
Oxysterols receptor LXR-alphaLiver X receptor alpha; Nuclear receptor subfamily 1 group H member 3Homo sapiens (human)
5'-AMP-activated protein kinase subunit beta-1AMPK subunit beta-1; AMPKbHomo sapiens (human)
Serine/threonine-protein kinase ULK1EC 2.7.11.1; Autophagy-related protein 1 homolog; ATG1; hATG1; Unc-51-like kinase 1Homo sapiens (human)
L-lactate dehydrogenase A chainLDH-A; EC 1.1.1.27; Cell proliferation-inducing gene 19 protein; LDH muscle subunit; LDH-M; Renal carcinoma antigen NY-REN-59Homo sapiens (human)
Transcription factor AP-1Activator protein 1; AP1; Proto-oncogene c-Jun; V-jun avian sarcoma virus 17 oncogene homolog; p39Homo sapiens (human)
Signal transducer and activator of transcription 3Acute-phase response factorHomo sapiens (human)
Protein kinase C iota typeEC 2.7.11.13; Atypical protein kinase C-lambda/iota; PRKC-lambda/iota; aPKC-lambda/iota; nPKC-iotaHomo sapiens (human)
Serine/threonine-protein kinase mTOREC 2.7.11.1; FK506-binding protein 12-rapamycin complex-associated protein 1; FKBP12-rapamycin complex-associated protein; Mammalian target of rapamycin; mTOR; Mechanistic target of rapamycin; Rapamycin and FKBP12 target 1; Rapamycin target protein 1Homo sapiens (human)
LIM domain kinase 1LIMK-1; EC 2.7.11.1Homo sapiens (human)
Apoptosis regulator BAX Bcl-2-like protein 4; Bcl2-L-4Homo sapiens (human)
Rho-associated protein kinase 1EC 2.7.11.1; Renal carcinoma antigen NY-REN-35; Rho-associated, coiled-coil-containing protein kinase 1; Rho-associated, coiled-coil-containing protein kinase I; ROCK-I; p160 ROCK-1; p160ROCKHomo sapiens (human)
Mitogen-activated protein kinase kinase kinase 14EC 2.7.11.25; NF-kappa-beta-inducing kinase; HsNIK; Serine/threonine-protein kinase NIKHomo sapiens (human)
Myosin-2Myosin heavy chain 2; Myosin heavy chain 2a; MyHC-2a; Myosin heavy chain IIa; MyHC-IIa; Myosin heavy chain, skeletal muscle, adult 2Homo sapiens (human)
Probable G-protein coupled receptor 85Super conserved receptor expressed in brain 2Homo sapiens (human)
Nuclear factor NF-kappa-B p105 subunitDNA-binding factor KBF1; EBP-1; Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1Homo sapiens (human)
Glucose-6-phosphataseG-6-Pase; G6Pase; EC 3.1.3.9; Glucose-6-phosphatase alpha; G6Pase-alphaHomo sapiens (human)
Myeloid differentiation primary response protein MyD88Homo sapiens (human)
Inositol-tetrakisphosphate 1-kinaseEC 2.7.1.134; Inositol 1,3,4-trisphosphate 5/6-kinase; Inositol-triphosphate 5/6-kinase; Ins(1,3,4)P(3) 5/6-kinase; 2.7.1.159Homo sapiens (human)
Ubiquitin carboxyl-terminal hydrolase 8EC 3.4.19.12; Deubiquitinating enzyme 8; Ubiquitin isopeptidase Y; hUBPy; Ubiquitin thioesterase 8; Ubiquitin-specific-processing protease 8Homo sapiens (human)
Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTENEC 3.1.3.16; EC 3.1.3.48; EC 3.1.3.67; Mutated in multiple advanced cancers 1; Phosphatase and tensin homologHomo sapiens (human)
Toll-like receptor 4EC 3.2.2.6; hTollHomo sapiens (human)
Bcl-2-like protein 11Bcl2-L-11; Bcl2-interacting mediator of cell deathHomo sapiens (human)
Myc proto-oncogene proteinClass E basic helix-loop-helix protein 39; bHLHe39; Proto-oncogene c-Myc; Transcription factor p64Homo sapiens (human)
Tumor necrosis factorCachectin; TNF-alpha; Tumor necrosis factor ligand superfamily member 2; TNF-aHomo sapiens (human)
Interleukin-1 betaIL-1 beta; CatabolinHomo sapiens (human)
Bloom syndrome proteinEC 3.6.4.12; DNA helicase, RecQ-like type 2; RecQ2; RecQ protein-like 3Homo sapiens (human)
Transforming protein RhoAEC 3.6.5.2; Rho cDNA clone 12; h12Homo sapiens (human)
Arginase-2, mitochondrialEC 3.5.3.1; Arginase II; Kidney-type arginase; Non-hepatic arginase; Type II arginaseHomo sapiens (human)
Histone-arginine methyltransferase CARM1EC 2.1.1.319; Coactivator-associated arginine methyltransferase 1; Protein arginine N-methyltransferase 4Homo sapiens (human)
Regulatory-associated protein of mTORRaptor; p150 target of rapamycin (TOR)-scaffold proteinHomo sapiens (human)
Target of rapamycin complex subunit LST8TORC subunit LST8; G protein beta subunit-like; Gable; Protein GbetaL; Mammalian lethal with SEC13 protein 8; mLST8Homo sapiens (human)
5'-AMP-activated protein kinase subunit gamma-2AMPK gamma2; AMPK subunit gamma-2; H91620pHomo sapiens (human)
Clathrin heavy chain 1Clathrin heavy chain on chromosome 17; CLH-17Homo sapiens (human)
Phosphoenolpyruvate carboxykinase, cytosolic [GTP]PEPCK-C; EC 4.1.1.32; Serine-protein kinase PCK1; 2.7.11.-Homo sapiens (human)
Ras-related protein Rab-10EC 3.6.5.2Homo sapiens (human)
Hepatocyte nuclear factor 3-alphaHNF-3-alpha; HNF-3A; Forkhead box protein A1; Transcription factor 3A; TCF-3AHomo sapiens (human)
Hepatocyte nuclear factor 3-betaHNF-3-beta; HNF-3B; Forkhead box protein A2; Transcription factor 3B; TCF-3BHomo sapiens (human)
Clathrin light chain ALcaHomo sapiens (human)
Transcription factor E3Class E basic helix-loop-helix protein 33; bHLHe33Homo sapiens (human)
Cryptochrome-1Homo sapiens (human)
COP9 signalosome complex subunit 8SGN8; Signalosome subunit 8; COP9 homolog; hCOP9; JAB1-containing signalosome subunit 8Homo sapiens (human)
Partitioning defective 3 homologPAR-3; PARD-3; Atypical PKC isotype-specific-interacting protein; ASIP; CTCL tumor antigen se2-5; PAR3-alphaHomo sapiens (human)
Cryptochrome-2Homo sapiens (human)
Ran-binding protein 9RanBP9; BPM-L; BPM90; Ran-binding protein M; RanBPM; RanBP7Homo sapiens (human)
Protein phosphatase 1 regulatory subunit 12AMyosin phosphatase-targeting subunit 1; Myosin phosphatase target subunit 1; Protein phosphatase myosin-binding subunitHomo sapiens (human)
Tumor necrosis factor ligand superfamily member 13A proliferation-inducing ligand; APRIL; TNF- and APOL-related leukocyte expressed ligand 2; TALL-2; TNF-related death ligand 1; TRDL-1Homo sapiens (human)
Amyloid-beta A4 precursor protein-binding family B member 1Protein Fe65Homo sapiens (human)
Circadian locomoter output cycles protein kaputhCLOCK; EC 2.3.1.48; Class E basic helix-loop-helix protein 8; bHLHe8Homo sapiens (human)
Intraflagellar transport protein 20 homologhIFT20Homo sapiens (human)
HMG box-containing protein 1HMG box transcription factor 1; High mobility group box transcription factor 1Homo sapiens (human)
COP9 signalosome complex subunit 1SGN1; Signalosome subunit 1; G protein pathway suppressor 1; GPS-1; JAB1-containing signalosome subunit 1; Protein MFHHomo sapiens (human)
Intraflagellar transport protein 25 homologHeat shock protein beta-11; Hspb11; Placental protein 25; PP25Homo sapiens (human)
Density-regulated proteinDRP; Protein DRP1; Smooth muscle cell-associated protein 3; SMAP-3Homo sapiens (human)
RB1-inducible coiled-coil protein 1FAK family kinase-interacting protein of 200 kDa; FIP200Homo sapiens (human)
COP9 signalosome complex subunit 4SGN4; Signalosome subunit 4; JAB1-containing signalosome subunit 4Homo sapiens (human)
Period circadian protein homolog 1hPER1; Circadian clock protein PERIOD 1; Circadian pacemaker protein RiguiHomo sapiens (human)
Aryl hydrocarbon receptor nuclear translocator-like protein 1Basic-helix-loop-helix-PAS protein MOP3; Brain and muscle ARNT-like 1; Class E basic helix-loop-helix protein 5; bHLHe5; Member of PAS protein 3; PAS domain-containing protein 3; bHLH-PAS protein JAP3Homo sapiens (human)
Toll-interacting proteinHomo sapiens (human)
Ras-related protein Rab-8AOncogene c-melHomo sapiens (human)
E3 ubiquitin-protein ligase NRDP1EC 2.3.2.27; RING finger protein 41; RING-type E3 ubiquitin transferase NRDP1Homo sapiens (human)
Intraflagellar transport protein 56Tetratricopeptide repeat protein 26; TPR repeat protein 26Homo sapiens (human)
Autophagy-related protein 13Homo sapiens (human)
Dynein regulatory complex subunit 4Growth arrest-specific protein 11; GAS-11; Growth arrest-specific protein 8; GAS-8Homo sapiens (human)
Clathrin light chain BLcbHomo sapiens (human)
ETS translocation variant 5Ets-related protein ERMHomo sapiens (human)
COP9 signalosome complex subunit 2SGN2; Signalosome subunit 2; Alien homolog; JAB1-containing signalosome subunit 2; Thyroid receptor-interacting protein 15; TR-interacting protein 15; TRIP-15Homo sapiens (human)
Interferon regulatory factor 8IRF-8; Interferon consensus sequence-binding protein; H-ICSBP; ICSBPHomo sapiens (human)
Intraflagellar transport protein 88 homologRecessive polycystic kidney disease protein Tg737 homolog; Tetratricopeptide repeat protein 10; TPR repeat protein 10Homo sapiens (human)
DNA topoisomerase 3-alphaEC 5.6.2.1; DNA topoisomerase III alphaHomo sapiens (human)
Mitoguardin 2Protein FAM73BHomo sapiens (human)
Ras-related GTP-binding protein ARag A; RagA; EC 3.6.5.-; Adenovirus E3 14.7 kDa-interacting protein 1; FIP-1Homo sapiens (human)
COP9 signalosome complex subunit 6SGN6; Signalosome subunit 6; JAB1-containing signalosome subunit 6; MOV34 homolog; Vpr-interacting protein; hVIPHomo sapiens (human)
Mitoguardin 1Protein FAM73AHomo sapiens (human)
TRAF3-interacting protein 1Interleukin-13 receptor alpha 1-binding protein 1; Intraflagellar transport protein 54 homolog; Microtubule-interacting protein associated with TRAF3; MIP-T3Homo sapiens (human)
Intraflagellar transport protein 81 homologCarnitine deficiency-associated protein expressed in ventricle 1; CDV-1Homo sapiens (human)
Protein phosphatase 1 regulatory subunit 14A17 kDa PKC-potentiated inhibitory protein of PP1; Protein kinase C-potentiated inhibitor protein of 17 kDa; CPI-17Homo sapiens (human)
Clusterin-associated protein 1QilinHomo sapiens (human)
RecQ-mediated genome instability protein 2hRMI2; BLM-associated protein of 18 kDa; BLAP18Homo sapiens (human)
Transcription cofactor HES-6C-HAIRY1; Class B basic helix-loop-helix protein 41; bHLHb41; Hairy and enhancer of split 6Homo sapiens (human)
Intraflagellar transport protein 74 homologCapillary morphogenesis gene 1 protein; CMG-1; Coiled-coil domain-containing protein 2Homo sapiens (human)
Autophagy-related protein 101Homo sapiens (human)
Intraflagellar transport protein 27 homologPutative GTP-binding protein RAY-like; Rab-like protein 4Homo sapiens (human)
WW domain-containing transcription regulator protein 1Transcriptional coactivator with PDZ-binding motifHomo sapiens (human)
Intraflagellar transport protein 22 homologRab-like protein 5Homo sapiens (human)
RecQ-mediated genome instability protein 1BLM-associated protein of 75 kDa; BLAP75; FAAP75Homo sapiens (human)
Intraflagellar transport protein 46 homologHomo sapiens (human)
Intraflagellar transport protein 57 homologDermal papilla-derived protein 8; Estrogen-related receptor beta-like protein 1; HIP1-interacting protein; MHS4R2Homo sapiens (human)
Intraflagellar transport protein 80 homologWD repeat-containing protein 56Homo sapiens (human)
COP9 signalosome complex subunit 7aSGN7a; Signalosome subunit 7a; Dermal papilla-derived protein 10; JAB1-containing signalosome subunit 7aHomo sapiens (human)
Intraflagellar transport protein 172 homologHomo sapiens (human)
COP9 signalosome complex subunit 3SGN3; Signalosome subunit 3; JAB1-containing signalosome subunit 3Homo sapiens (human)
Cofilin-2Cofilin, muscle isoformHomo sapiens (human)
Intraflagellar transport protein 52 homologProtein NGD5 homologHomo sapiens (human)
B-cell-activating factor BAFF Gallus gallus (chicken)

Compounds (6)

CompoundDescription
ZincA metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn.
HydrocortisoneThe main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.
MagnesiumA metallic element that has the atomic symbol Mg, atomic number 12, and atomic weight 24.31. It is important for the activity of many enzymes, especially those involved in OXIDATIVE PHOSPHORYLATION.
melatoninA biogenic amine that is found in animals and plants. In mammals, melatonin is produced by the PINEAL GLAND. Its secretion increases in darkness and decreases during exposure to light. Melatonin is implicated in the regulation of SLEEP, mood, and REPRODUCTION. Melatonin is also an effective antioxidant.
thymineOne of four constituent bases of DNA.
uracilOne of four nucleotide bases in the nucleic acid RNA.