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| ARL3 | ADP-ribosylation factor-like protein 3; Small GTP-binding protein which cycles between an inactive GDP-bound and an active GTP-bound form, and the rate of cycling is regulated by guanine nucleotide exchange factors (GEF) and GTPase-activating proteins (GAP). Required for normal cytokinesis and cilia signaling. Requires assistance from GTPase- activating proteins (GAPs) like RP2 and PDE6D, in order to cycle between inactive GDP-bound and active GTP-bound forms. Required for targeting proteins such as NPHP3 to the ciliary membrane by releasing myristoylated NPHP3 from UNC119B cargo adapt [...] (182 aa) | |||
| SRF | Serum response factor; SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5’ of the site of transcription initiation of some genes (such as FOS). Required for cardiac differentiation and maturation; MADS box family (508 aa) | |||
| FERMT3 | Fermitin family homolog 3; Plays a central role in cell adhesion in hematopoietic cells. Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells. Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity); Belongs to the kindlin family (667 aa) | |||
| PTCD1 | Pentatricopeptide repeat-containing protein 1, mitochondrial; 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; Belongs to the PTCD1 family (700 aa) | |||
| SLX4 | Structure-specific endonuclease subunit SLX4; Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts i [...] (1834 aa) | |||
| LCN15 | Lipocalin-15; Lipocalin 15; Lipocalins (184 aa) | |||
| MKL2 | MKL/myocardin-like protein 2; Acts as a transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation; Myocardin family (1049 aa) | |||
| CCDC151 | Coiled-coil domain-containing protein 151; Ciliary protein involved in outer dynein arm assembly and required for motile cilia function (595 aa) | |||
| GTF2B | Transcription initiation factor IIB; General factor that plays a major role in the activation of eukaryotic genes transcribed by RNA polymerase II; Belongs to the TFIIB family (316 aa) | |||
| DHX16 | Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16; Probable ATP-binding RNA helicase involved in pre-mRNA splicing; Belongs to the DEAD box helicase family. DEAH subfamily. DDX16/PRP8 sub-subfamily (1041 aa) | |||
| ALKBH2 | DNA oxidative demethylase ALKBH2; Dioxygenase that repairs alkylated DNA and RNA containing 1-methyladenine and 3-methylcytosine by oxidative demethylation. Can also repair alkylated DNA containing 1- ethenoadenine (in vitro). Has strong preference for double- stranded DNA. Has low efficiency with single-stranded substrates. Requires molecular oxygen, alpha-ketoglutarate and iron; Alkylation repair homologs (261 aa) | |||
| ENSG00000248919 | ATP5J2-PTCD1 readthrough (749 aa) | |||
| AARSD1 | Alanyl-tRNA editing protein Aarsd1; Functions in trans to edit the amino acid moiety from incorrectly charged tRNA(Ala) (412 aa) | |||
| OTUD4 | OTU domain-containing protein 4; Deubiquitinating enzyme that specifically hydrolyzes ’Lys-48’-linked polyubiquitin; OTU domain containing (1049 aa) | |||
| SYNJ1 | Synaptojanin-1; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity); Belongs to the synaptojanin family (1612 aa) | |||
