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| | FXN | Frataxin, mitochondrial. (135 aa) |
| | PENK | proenkephalin-A. (267 aa) |
| | HEXA | Beta-hexosaminidase. (532 aa) |
| | AGTPBP1 | Cytosolic carboxypeptidase 1 isoform X1. (1226 aa) |
| | PAFAH1B1 | Platelet-activating factor acetylhydrolase IB subunit alpha; Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ven [...] (411 aa) |
| | SCN1A | Sodium channel protein; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. (2011 aa) |
| | STAC3 | SH3 and cysteine-rich domain-containing protein 3 isoform X1. (362 aa) |
| | R3HDM2 | R3H domain-containing protein 2 isoform X5. (1006 aa) |
| | TNNC2 | Troponin C, skeletal muscle. (161 aa) |
| | ABL1 | Tyrosine-protein kinase. (1148 aa) |
| | ENSTSYP00000001960 | USH1 protein network component harmonin. (898 aa) |
| | CNTNAP1 | Contactin-associated protein 1. (1310 aa) |
| | ATP8A2 | Phospholipid-transporting ATPase; Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. (1188 aa) |
| | GIGYF2 | GRB10-interacting GYF protein 2. (1299 aa) |
| | HOXD10 | Homeobox protein Hox-D10. (340 aa) |
| | SPART | Spartin isoform X1. (670 aa) |
| | DRD3 | D(3) dopamine receptor; Belongs to the G-protein coupled receptor 1 family. (399 aa) |
| | FGF12 | Fibroblast growth factor; Belongs to the heparin-binding growth factors family. (176 aa) |
| | HOMER1 | Homer protein homolog 1. (366 aa) |
| | SYNM | Synemin; Belongs to the intermediate filament family. (963 aa) |
| | JPH4 | Junctophilin-4. (547 aa) |
| | GM2A | Ganglioside GM2 activator. (166 aa) |
| | GCH1 | GTP cyclohydrolase 1. (197 aa) |
| | VPS35 | Vacuolar protein sorting-associated protein 35; Plays a role in vesicular protein sorting. (796 aa) |
| | GRIN2D | Glutamate receptor ionotropic, NMDA 2D; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. (766 aa) |
| | ALDH1A3 | Aldehyde dehydrogenase family 1 member A3; Belongs to the aldehyde dehydrogenase family. (512 aa) |
| | MYH3 | Myosin-3; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (1951 aa) |
| | SLITRK6 | SLIT and NTRK-like protein 6. (841 aa) |
| | CAMTA1 | LOW QUALITY PROTEIN: calmodulin-binding transcription activator 1. (1561 aa) |
| | PRKN | RBR-type E3 ubiquitin transferase. (220 aa) |
| | PRRT2 | Proline-rich transmembrane protein 2 isoform X1. (375 aa) |
| | HIPK2 | Homeodomain-interacting protein kinase 2 isoform X1. (1198 aa) |
| | GRIN2A | Glutamate receptor ionotropic, NMDA 2A; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. (1144 aa) |
| | R3HDM1 | R3H domain-containing protein 1. (393 aa) |
| | VTI1A | Vesicle transport through interaction with t-SNAREs homolog 1A. (117 aa) |
| | CLRN1 | LOW QUALITY PROTEIN: clarin-1. (244 aa) |
| | GRIN3A | Glutamate receptor ionotropic, NMDA 3A; Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. (1115 aa) |
| | CHD8 | Chromodomain-helicase-DNA-binding protein 8; DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive [...] (2588 aa) |
| | PCDH15 | Protocadherin-15. (838 aa) |
| | ZMPSTE24 | CAAX prenyl protease; Proteolytically removes the C-terminal three residues of farnesylated proteins; Belongs to the peptidase M48A family. (475 aa) |
| | MTOR | Serine/threonine-protein kinase mTOR; Belongs to the PI3/PI4-kinase family. (2548 aa) |
| | DLG4 | Disks large homolog 4 isoform X1; Belongs to the MAGUK family. (765 aa) |
| | VPS54 | Vacuolar protein sorting-associated protein 54. (875 aa) |
| | ADARB1 | Double-stranded RNA-specific editase 1. (738 aa) |
| | PTPRQ | Phosphatidylinositol phosphatase PTPRQ. (2333 aa) |
| | MAP1A | Microtubule-associated protein 1A isoform X1. (3042 aa) |
| | LRRC45 | Leucine-rich repeat-containing protein 45. (670 aa) |
| | JPH3 | Junctophilin-3. (697 aa) |
| | TNNT1 | Troponin T1, slow skeletal type. (232 aa) |
| | STAC | SH3 and cysteine-rich domain-containing protein isoform X1. (402 aa) |
| | TNNI3 | Troponin I, cardiac muscle. (211 aa) |
| | STAC2 | SH3 and cysteine-rich domain-containing protein 2. (408 aa) |
| | MYCBP2 | E3 ubiquitin-protein ligase MYCBP2 isoform X1. (497 aa) |
| | TPP1 | Tripeptidyl-peptidase 1 isoform X2. (563 aa) |
| | NEUROG1 | LOW QUALITY PROTEIN: neurogenin-1. (226 aa) |
| | HERC1 | Probable E3 ubiquitin-protein ligase HERC1 isoform X1. (4865 aa) |
| | LOC103252525 | Protocadherin-15-like. (394 aa) |
| | CHRND | Acetylcholine receptor subunit delta isoform X1. (517 aa) |
| | TNNT3 | Troponin T, fast skeletal muscle. (222 aa) |
| | SHANK3 | SH3 and multiple ankyrin repeat domains protein 3. (1282 aa) |
| | MYO7A | Unconventional myosin-VIIa; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (2164 aa) |
| | MECP2 | Methyl-CpG-binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC). (510 aa) |
| | RPS6KB1 | Ribosomal protein S6 kinase; Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. S6 kinase subfamily. (525 aa) |
| | TMEM150C | Transmembrane protein 150C isoform X2. (249 aa) |
| | CHRNB1 | Acetylcholine receptor subunit beta isoform X1. (500 aa) |
| | HOXC10 | LOW QUALITY PROTEIN: homeobox protein Hox-C10. (341 aa) |
| | LOC103273220 | Homeobox protein HMX3. (289 aa) |
| | RCSD1 | capZ-interacting protein. (441 aa) |
| | NRXN1 | Neurexin-1 isoform X5. (1229 aa) |
| | LOC103250886 | Segment polarity protein dishevelled homolog DVL-1-like. (373 aa) |
| | POU4F2 | POU domain protein. (396 aa) |
| | ASCL1 | Achaete-scute family bHLH transcription factor 1. (220 aa) |
| | ENSTSYP00000021791 | annotation not available (63 aa) |
| | TNNC1 | Troponin C, slow skeletal and cardiac muscles. (182 aa) |
| | APP | Amyloid beta A4 protein isoform X1. (765 aa) |
| | USH1G | Usher syndrome type-1G protein. (461 aa) |
| | BCR | Breakpoint cluster region protein. (1272 aa) |
| | GLRA1 | Glycine receptor subunit alpha-1 isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (456 aa) |
| | SLURP1 | Secreted Ly-6/uPAR-related protein 1. (101 aa) |
| | KCNQ1 | Potassium voltage-gated channel subfamily KQT member 1; Belongs to the potassium channel family. (422 aa) |
| | TCAP | Telethonin isoform X1. (165 aa) |
| | SLC6A3 | Transporter; Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. (619 aa) |
| | REST | RE1-silencing transcription factor. (339 aa) |
| | LOC103249516 | Inositol 1,4,5-trisphosphate receptor type 1. (389 aa) |
| | PVALEF | Parvalbumin like EF-hand containing. (134 aa) |
| | NLGN2 | Neuroligin-2. (760 aa) |
| | AARS | alanine--tRNA ligase, cytoplasmic; Catalyzes the attachment of alanine to tRNA(Ala) in a two- step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain. Belongs to the class-II aminoacyl-tRNA synthetase family. (968 aa) |
| | POU4F3 | POU domain protein. (338 aa) |
| | CLN8 | Protein CLN8. (288 aa) |
| | TNNI1 | Troponin I, slow skeletal muscle isoform X1. (187 aa) |
| | GBX1 | Homeobox protein GBX-1. (226 aa) |
| | DRD2 | D(2) dopamine receptor isoform X1; Belongs to the G-protein coupled receptor 1 family. (443 aa) |
| | HEXB | Beta-hexosaminidase subunit beta. (452 aa) |
| | HOXA1 | Homeobox protein Hox-A1 isoform X1. (335 aa) |
| | LOC103250817 | Cartilage oligomeric matrix protein. (202 aa) |
| | LOC103252352 | Myosin-14; Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. (547 aa) |
| | CSMD2 | CUB and sushi domain-containing protein 2. (941 aa) |
| | ENSTSYP00000029868 | annotation not available (246 aa) |
| | CDH23 | Cadherin-23 isoform X2. (3368 aa) |
| | PMP22 | Peripheral myelin protein 22; Might be involved in growth regulation, and in myelinization in the peripheral nervous system; Belongs to the PMP-22/EMP/MP20 family. (160 aa) |
| | ADCY5 | Adenylate cyclase; Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. (915 aa) |
| | TNR | LOW QUALITY PROTEIN: tenascin-R. (1359 aa) |
| | EDNRA | Endothelin-1 receptor isoform X1; Belongs to the G-protein coupled receptor 1 family. (427 aa) |
| | CHRNA1 | Acetylcholine receptor subunit alpha. (470 aa) |
| | PTEN | Phosphatase and tensin homolog; Tumor suppressor. Acts as a dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine- phosphorylated proteins. Also acts as a lipid phosphatase. Belongs to the PTEN phosphatase protein family. (403 aa) |
| | ADORA2A | Adenosine receptor A2; Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Belongs to the G-protein coupled receptor 1 family. (412 aa) |
| | PNKD | Probable hydrolase PNKD isoform X2. (385 aa) |
| | GLRB | Glycine receptor subunit beta isoform X1; Belongs to the ligand-gated ion channel (TC 1.A.9) family. (497 aa) |
| | ENSTSYP00000032347 | annotation not available (154 aa) |
| | ENSTSYP00000032480 | annotation not available (1035 aa) |
| | DMPK | Myotonin-protein kinase. (545 aa) |
| | SLC1A3 | Amino acid transporter. (542 aa) |
| | PEX5 | Peroxisomal biogenesis factor 5 isoform X1. (579 aa) |
| | BACE1 | Beta-secretase 1 isoform X1; Belongs to the peptidase A1 family. (502 aa) |
| | IGDCC3 | Immunoglobulin superfamily DCC subclass member 3. (781 aa) |
| | ENSTSYP00000033992 | annotation not available (46 aa) |
| | STRA6 | Stimulated by retinoic acid gene 6 protein homolog isoform X2. (689 aa) |
| | NEFL | Neurofilament light polypeptide; Belongs to the intermediate filament family. (544 aa) |
| | DCTN1 | Dynactin subunit 1 isoform X3. (1284 aa) |
