ACOX1 |
Peroxisomal acyl-coenzyme A oxidase 1 |
Desaturation of acyl-CoAs to 2-trans-enoyl-CoAs |
ALDH18A1 |
Delta-1-pyrroline-5-carboxylate synthase |
Synthesis of proline, ornithine and arginine |
AP2A1 |
AP-2 complex subunit alpha-1 |
Component of the adaptor protein complex 2; clathrin-dependent endocytosis |
ARHGAP1 |
Rho GTPase-activating protein 1 |
GTPase activator for Rho, Rac and Cdc42 |
ARMT1 |
Protein-glutamate O-methyltransferase |
Formation of gamma-glutamyl methyl ester residues |
BCLAF1 |
Bcl-2-associated transcription factor 1 |
Death-promoting transcriptional repressor |
DAZAP1 |
DAZ-associated protein 1 |
RNA-binding protein; possibly required in spermatogenesis |
DBI |
Acyl-CoA-binding protein |
Possible intracellular carrier of acyl-CoA esters |
DBT |
Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial |
Conversion of alpha-keto acids to acyl-CoA and CO2
|
DDX23 |
Probable ATP-dependent RNA helicase DDX23 |
Pre-mRNA splicing |
DNAJC3 |
DnaJ homolog subfamily C member 3 |
Unfolded protein response during endoplasmic reticulum stress |
DSP |
Desmoplakin |
Anchoring of intermediate filaments to desmosomes |
EIF6 |
Eukaryotic translation initiation factor 6 |
Prevents the association of the 60S ribosomal subunit with the 40S subunit |
EPM2AIP1 |
EPM2A-interacting protein 1 |
Unknown |
EZR |
Ezrin |
Connection of cytoskeletal structures to the plasma membrane; formation of microvilli |
FARSB |
Phenylalanine–tRNA ligase beta subunit |
Regulatory tRNA ligase beta subunit |
FBN2 |
Fibrillin-2 |
Component of extracellular calcium-binding microfibrils; regulation of elastic fibers |
FLOT1 |
Flotillin-1 |
Possible scaffolding protein within caveolar membranes; formation of caveolae |
FUCA2 |
Plasma alpha-L-fucosidase |
Hydrolyzation of glycoproteins |
GATM |
Glycine amidinotransferase, mitochondrial |
Synthesis of creatine precursor guanidinoacetate |
GDAP2 |
Ganglioside-induced differentiation-associated protein 2 |
Unknown |
HIST1H4A |
Histone H4 |
Core nucleosome component |
HNRNPD |
Heterogeneous nuclear ribonucleoprotein D0 |
RNA-binding protein |
HNRNPH1 |
Heterogeneous nuclear ribonucleoprotein H |
Pre-mRNA processing |
HNRNPM |
Heterogeneous nuclear ribonucleoprotein M |
Pre-mRNA binding protein |
HSD17B2 |
Estradiol 17-beta-dehydrogenase 2 |
Interconversion of testosterone and androstenedione; estradiol and estrone |
KIAA1468 |
LisH domain and HEAT repeat-containing protein KIAA1468 |
Unknown |
KTN1 |
Kinectin |
Kinesin-driven vesicle motility |
LRPPRC |
Leucine-rich PPR motif-containing protein, mitochondrial |
Nuclear and mitochondrial RNA metabolism |
LRRC8A |
Volume-regulated anion channel subunit LRRC8A |
Essential component of the volume-regulated anion channel |
LRSAM1 |
E3 ubiquitin-protein ligase LRSAM1 |
Regulation of signaling pathways, cell adhesion, self-ubiquitylation, and cargo sorting during receptor endocytosis |
MRPL28 |
39S ribosomal protein L28, mitochondrial |
Component of the 39S mitochondrial ribosome subunit |
MRRF |
Ribosome-recycling factor, mitochondrial |
Release of ribosomes from mRNA |
MYH9 |
Myosin-9 |
Cytokinesis, cell shape, secretion |
MYO7A |
Unconventional myosin-VIIa |
Intracellular movements |
NUDT19 |
Nucleoside diphosphate-linked moiety X motif 19 |
Hydrolysis various CoA esters |
NUP155 |
Nuclear pore complex protein Nup155 |
Component of the nuclear pore complex |
PDHB |
Pyruvate dehydrogenase E1 component subunit beta, mitochondrial |
Conversion of pyruvate to acetyl-CoA and CO2
|
POLR2E |
DNA-directed RNA polymerases I, II, and III subunit RPABC1 |
Subunit of RNA polymerase II |
PRCP |
Lysosomal Pro-X carboxypeptidase |
Cleavage of C-terminal amino acids |
PRDX2 |
Peroxiredoxin-2 |
Involved in redox regulation of the cell |
PRDX3 |
Thioredoxin-dependent peroxide reductase, mitochondrial |
Involved in redox regulation of the cell |
PRKCSH |
Glucosidase 2 subunit beta |
Beta-subunit of glucosidase II, an ER glycan-processing enzyme |
PRKDC |
DNA-dependent protein kinase catalytic subunit |
DNA double-strand break repair |
PRPF8 |
Pre-mRNA-processing-splicing factor 8 |
Assembly of spliceosomal proteins |
PRPS2 |
Ribose-phosphate pyrophosphokinase 2 |
Synthesis of phosphoribosylpyrophosphate (PRPP), essential for nucleotide synthesis |
PTCD3 |
Pentatricopeptide repeat domain-containing protein 3, mitochondrial |
Mitochondrial RNA-binding protein |
PTPRA |
Receptor-type tyrosine-protein phosphatase alpha |
Regulation of integrin signaling, cell adhesion and proliferation |
RAB7A |
Ras-related protein Rab-7a |
Key regulator in endo-lysosomal trafficking |
RPL18 |
60S ribosomal protein L18 |
Component of the ribosomal 60S subunit |
RPL37A |
60S ribosomal protein L37a |
Component of the ribosomal 60S subunit |
SLC25A3 |
Phosphate carrier protein, mitochondrial |
Transport of phosphate groups from the cytosol to the mitochondrial matrix |
SOSTDC1 |
Sclerostin domain-containing protein 1 |
Bone morphogenetic protein antagonist |
SRP54 |
Signal recognition particle 54 kDa protein |
Transfer of presecretory protein from ribosomes to TRAM (translocating chain-associating membrane protein) |
STAG2 |
Cohesin subunit SA-2 |
Component of the cohesin complex |
SUCLG2 |
Succinyl-CoA ligase [GDP-forming] subunit beta, mitochondrial |
Citric acid cycle |
SULT1A1 |
Sulfotransferase 1A1 |
Sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters |
TOR1A |
Torsin-1A |
Protein folding, processing, stability and localization |
TRA2B |
Transformer-2 protein homolog beta |
Pre-mRNA splicing |
UBA1 |
Ubiquitin-like modifier-activating enzyme 1 |
Ubiquitin conjugation |
VPS18 |
Vacuolar protein sorting-associated protein 18 homolog |
Vesicle-mediated protein trafficking to lysosomal compartments |