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ABCD1 | ATP-binding cassette sub-family D member 1; Probable transporter. The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily (745 aa) | |||
PEX11G | Peroxisomal membrane protein 11C; Promotes membrane protrusion and elongation on the peroxisomal surface; Belongs to the peroxin-11 family (241 aa) | |||
RSPH3 | Radial spoke head protein 3 homolog; Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia; Belongs to the flagellar radial spoke RSP3 family (560 aa) | |||
KHDRBS2 | KH domain-containing, RNA-binding, signal transduction-associated protein 2; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds both poly(A) and poly(U) homopolymers. Phosphorylation by PTK6 inhibits its RNA-binding ability (By similarity). Induces an increased concentration-dependent incorporation of exon in CD44 pre-mRNA by direct binding to purine-rich exonic enhancer. Can regulate alternative splicing of NRXN1 in the laminin G-like domain 6 containing the evolutionary conserved neurexin [...] (349 aa) | |||
WDR63 | WD repeat-containing protein 63; WD repeat domain containing (891 aa) | |||
PEX11A | Peroxisomal membrane protein 11A; May be involved in peroxisomal proliferation and may regulate peroxisomes division. May mediate binding of coatomer proteins to the peroxisomal membrane (By similarity). Promotes membrane protrusion and elongation on the peroxisomal surface; Peroxins (247 aa) | |||
ABCD2 | ATP-binding cassette sub-family D member 2; Probable transporter; Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily (740 aa) | |||
KHDRBS1 | KH domain-containing, RNA-binding, signal transduction-associated protein 1; Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain- containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediate [...] (443 aa) | |||
DYNC1I1 | Cytoplasmic dynein 1 intermediate chain 1; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150- glued) DCNT1. May play a role in mediating the interaction of cytoplasmic dynein with membranous organelles and kin [...] (645 aa) | |||
CS | Citrate synthase, mitochondrial; Citrate synthase (466 aa) | |||
KHDRBS3 | KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5’-[AU]UAAA-3’ motif in vitro. Binds optimally to RNA containing 5’-[AU]UAA-3’ as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6. Involved in splice site selection of vascular endothelial growth factor. In vitro regulates CD44 alternative splicing by direct [...] (346 aa) | |||
ABCD4 | ATP-binding cassette sub-family D member 4; May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm; ATP binding cassette subfamily D (606 aa) | |||
SMC3 | Structural maintenance of chromosomes protein 3; Central component of cohesin, a complex required for chromosome cohesion during the cell cycle. The cohesin complex may form a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. Cohesion is coupled to DNA replication and is involved in DNA repair. The cohesin complex plays also an important role in spindle pole assembly during mitosis and in chromosomes movement (1217 aa) | |||
QKI | Protein quaking; RNA-binding protein that plays a central role in myelinization. Binds to the 5’-NACUAAY-N(1,20)- UAAY-3’ RNA core sequence. Regulates target mRNA stability. In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia. Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulat [...] (341 aa) | |||
PEX11B | Peroxisomal membrane protein 11B; Involved in peroxisomal proliferation. May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane. Promotes membrane protrusion and elongation on the peroxisomal surface; Belongs to the peroxin-11 family (259 aa) | |||
ABCD3 | ATP-binding cassette sub-family D member 3; Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis. The nucleotide-binding fold acts as an ATP- binding subunit with ATPase activity (659 aa) | |||
WDR34 | WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at ’Thr-184’ and ’Thr-187’ upon Il-1 beta stimulation; WD repeat domain containing (536 aa) | |||
SF1 | Splicing factor 1; Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5’-UACUAAC-3’ of the pre-mRNA. May act as transcription repressor; Spliceosomal A complex (673 aa) | |||
IPP | Actin-binding protein IPP; May play a role in organizing the actin cytoskeleton; BTB domain containing (584 aa) | |||
DYNC1I2 | Cytoplasmic dynein 1 intermediate chain 2; Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. The intermediate chains mediate the binding of dynein to dynactin via its 150 kDa component (p150- glued) DCNT1. Involved in membrane-transport, such as Golgi apparatus, late endosomes and lysosomes (638 aa) | |||
WDR60 | WD repeat-containing protein 60; May play a role in ciliogenesis; WD repeat domain containing (1066 aa) | |||
KLHL24 | Kelch-like protein 24; Necessary to maintain the balance between intermediate filament stability and degradation, a process that is essential for skin integrity. As part of the BCR(KLHL24) E3 ubiquitin ligase complex, mediates ubiquitination of KRT14 and controls its levels during keratinocytes differentiation. Specifically reduces kainate receptor-mediated currents in hippocampal neurons, most probably by modulating channel properties (By similarity); BTB domain containing (600 aa) | |||
DNAI2 | Dynein intermediate chain 2, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family (605 aa) | |||
KLHL29 | Kelch-like protein 29; Kelch like family member 29; BTB domain containing (875 aa) | |||
DNAI1 | Dynein intermediate chain 1, axonemal; Part of the dynein complex of respiratory cilia; Belongs to the dynein intermediate chain family (703 aa) | |||
HTD2 | Hydroxyacyl-thioester dehydratase type 2, mitochondrial; Mitochondrial 3-hydroxyacyl-thioester dehydratase, which may be involved in fatty acid biosynthesis; Belongs to the HTD2 family (168 aa) |