Human Genes Group 1 Flashcards
NTM-AS1
Putative uncharacterized protein NTM-AS1 (NTM antisense RNA 1) (NTM antisense gene protein 1) Q6ZSK4
PLAA
Phospholipase A-2-activating protein (PLA2P) (PLAP) Q9Y263
FUNCTION: Plays a role in protein ubiquitination, sorting and degradation through its association with VCP . Involved in ubiquitin-mediated membrane proteins trafficking to late endosomes in an ESCRT-dependent manner, and hence plays a role in synaptic vesicle recycling (By similarity). May play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes . Plays a role in cerebellar Purkinje cell development (By similarity). Positively regulates cytosolic and calcium-independent phospholipase A2 activities in a tumor necrosis factor alpha (TNF-alpha)- or lipopolysaccharide (LPS)-dependent manner, and hence prostaglandin E2 biosynthesis.
NACC1
Nucleus accumbens-associated protein 1 (NAC-1) (BTB/POZ domain-containing protein 14B) Q96RE7 FUNCTION: Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.
MTSS1
Protein MTSS 1 (Metastasis suppressor YGL-1) (Metastasis suppressor protein 1) (Missing in metastasis protein) O43312 FUNCTION: May be related to cancer progression or tumor metastasis in a variety of organ sites, most likely through an interaction with the actin cytoskeleton. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
PNPLA8
Calcium-independent phospholipase A2-gamma (EC 3.1.5) (Intracellular membrane-associated calcium-independent phospholipase A2 gamma) (iPLA2-gamma) (PNPLA-gamma) (Patatin-like phospholipase domain-containing protein 8) (iPLA2-2) Q9NP80 FUNCTION: Calcium-independent phospholipase A2, which catalyzes the hydrolysis of the sn-2 position of glycerophospholipids, PtdSer and to a lower extent PtdCho. Cleaves membrane phospholipids.
POU4F3
POU domain, class 4, transcription factor 3 (Brain-specific homeobox/POU domain protein 3C) (Brain-3C) (Brn-3C) Q15319 FUNCTION: Acts as a transcriptional activator . Acts by binding to sequences related to the consensus octamer motif 5’-ATGCAAAT-3’ in the regulatory regions of its target genes . Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).
RHOC
Rho-related GTP-binding protein RhoC (Rho cDNA clone 9) (h9) P08134 FUNCTION: Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. Note=Translocates to the equatorial region before furrow formation in a ECT2-dependent manner.
RRAGB
Ras-related GTP-binding protein B (Rag B) (RagB) Q5VZM2 FUNCTION: Guanine nucleotide-binding protein that plays a crucial role in the cellular response to amino acid availability through regulation of the mTORC1 signaling cascade. Forms heterodimeric Rag complexes with RRAGC or RRAGD and cycles between an inactive GDP-bound and an active GTP-bound form. In its active form participates in the relocalization of mTORC1 to the lysosomes and its subsequent activation by the GTPase RHEB. Involved in the RCC1/Ran-GTPase pathway.
POLR1D
Protein POLR1D, isoform 2 P0DPB5
POLR3GL
DNA-directed RNA polymerase III subunit RPC7-like (RNA polymerase III subunit C7-like) (DNA-directed RNA polymerase III subunit G-like) (RNA polymerase III 32 kDa beta subunit) (RPC32-beta) Q9BT43 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs.
RAB28
Ras-related protein Rab-28 P51157 SUBCELLULAR LOCATION: Cell membrane .
RAB4A
Ras-related protein Rab-4A P20338 FUNCTION: Protein transport. Plays a role in vesicular traffic. Mediates VEGFR2 endosomal trafficking to enhance VEGFR2 signaling.
RAB5B
Ras-related protein Rab-5B P61020 FUNCTION: Protein transport. Probably involved in vesicular traffic (By similarity). Note=Enriched in stage I melanosomes.
RIOK1
Serine/threonine-protein kinase RIO1 (EC 2.11.1) (EC 3.3.-) (RIO kinase 1) Q9BRS2 FUNCTION: Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor . The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation .
RNASEL
2-5A-dependent ribonuclease (2-5A-dependent RNase) (EC 3.26.-) (Ribonuclease 4) (Ribonuclease L) (RNase L) Q05823 FUNCTION: Endoribonuclease that functions in the interferon (IFN) antiviral response. In INF treated and virus infected cells, RNASEL probably mediates its antiviral effects through a combination of direct cleavage of single-stranded viral RNAs, inhibition of protein synthesis through the degradation of rRNA, induction of apoptosis, and induction of other antiviral genes. RNASEL mediated apoptosis is the result of a JNK-dependent stress-response pathway leading to cytochrome c release from mitochondria and caspase-dependent apoptosis. Therefore, activation of RNASEL could lead to elimination of virus infected cells under some circumstances. In the crosstalk between autophagy and apoptosis proposed to induce autophagy as an early stress response to small double-stranded RNA and at later stages of prolonged stress to activate caspase-dependent proteolytic cleavage of BECN1 to terminate autophagy and promote apoptosis . Might play a central role in the regulation of mRNA turnover . Cleaves 3’ of UpNp dimers, with preference for UU and UA sequences, to sets of discrete products ranging from between 4 and 22 nucleotides in length.
RAB7A
Ras-related protein Rab-7a P51149 FUNCTION: Key regulator in endo-lysosomal trafficking. Governs early-to-late endosomal maturation, microtubule minus-end as well as plus-end directed endosomal migration and positioning, and endosome-lysosome transport through different protein-protein interaction cascades. Plays a central role, not only in endosomal traffic, but also in many other cellular and physiological events, such as growth-factor-mediated cell signaling, nutrient-transportor mediated nutrient uptake, neurotrophin transport in the axons of neurons and lipid metabolism. Also involved in regulation of some specialized endosomal membrane trafficking, such as maturation of melanosomes, pathogen-induced phagosomes (or vacuoles) and autophagosomes. Plays a role in the maturation and acidification of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis. Plays a role in the fusion of phagosomes with lysosomes. Plays important roles in microbial pathogen infection and survival, as well as in participating in the life cycle of viruses. Microbial pathogens possess survival strategies governed by RAB7A, sometimes by employing RAB7A function (e. Salmonella) and sometimes by excluding RAB7A function (e. Mycobacterium). In concert with RAC1, plays a role in regulating the formation of RBs (ruffled borders) in osteoclasts. Controls the endosomal trafficking and neurite outgrowth signaling of NTRK1/TRKA (, , , , ). Regulates the endocytic trafficking of the EGF-EGFR complex by regulating its lysosomal degradation. Involved in the ADRB2-stimulated lipolysis through lipophagy, a cytosolic lipase-independent autophagic pathway (By similarity). Required for the exosomal release of SDCBP, CD63 and syndecan .
RAB29
Ras-related protein Rab-7L1 (Rab-7-like protein 1) (Ras-related protein Rab-29) O14966 FUNCTION: The small GTPases Rab are key regulators in vesicle trafficking . Essential for maintaining the integrity of the endosome-trans-Golgi network structure (By similarity). Together with LRRK2, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose 6 phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner . Recruits LRRK2 to the Golgi complex and stimulates LRRK2 kinase activity . Regulates neuronal process morphology in the intact central nervous system (CNS) (By similarity). May play a role in the formation of typhoid toxin transport intermediates during Salmonella enterica serovar Typhi (S.Typhi) epithelial cell infection .
RALBP1
RalA-binding protein 1 (RalBP1) (76 kDa Ral-interacting protein) (Dinitrophenyl S-glutathione ATPase) (DNP-SG ATPase) (Ral-interacting protein 1) Q15311 FUNCTION: Can activate specifically hydrolysis of GTP bound to RAC1 and CDC42, but not RALA. Mediates ATP-dependent transport of S-(2,4-dinitrophenyl)-glutathione (DNP-SG) and doxorubicin (DOX) and is the major ATP-dependent transporter of glutathione conjugates of electrophiles (GS-E) and DOX in erythrocytes. Can catalyze transport of glutathione conjugates and xenobiotics, and may contribute to the multidrug resistance phenomenon. Serves as a scaffold protein that brings together proteins forming an endocytotic complex during interphase and also with CDK1 to switch off endocytosis, One of its substrates would be EPN1/Epsin.
PTRHD1
Putative peptidyl-tRNA hydrolase PTRHD1 (EC 3.1.29) (Peptidyl-tRNA hydrolase domain-containing protein 1) Q6GMV3
SLURP2
Secreted Ly-6/uPAR domain-containing protein 2 (Secreted LY6/PLAUR domain-containing protein 2) (Secreted Ly-6/uPAR-related protein 2) (SLURP-2) P0DP57 FUNCTION: Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7-containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha-3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as CHRM1 and CHRM3, in an allosteric manner.
TAC4
Tachykinin-4 (Preprotachykinin-C) (PPT-C) [Cleaved into: Endokinin-A (EKA); Endokinin-A/B (EKA/B); Endokinin-C (EKC)] Q86UU9 FUNCTION: Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Endokinin-A induces thermal hyperalgesia and pain-related behavior such as scratching following intrathecal administration in rats. These effects are suppressed by treatment with endokinin-C. Endokinin-A/B reduces arterial blood pressure and increases sperm motility.
TCEANC2
Transcription elongation factor A N-terminal and central domain-containing protein 2 Q96MN5 SUBCELLULAR LOCATION: Nucleus .
TLR8
Toll-like receptor 8 (CD antigen CD288) Q9NR97 FUNCTION: Key component of innate and adaptive immunity. TLRs (Toll-like receptors) control host immune response against pathogens through recognition of molecular patterns specific to microorganisms. Acts via MYD88 and TRAF6, leading to NF-kappa-B activation, cytokine secretion and the inflammatory response.
TECTA
Alpha-tectorin O75443 FUNCTION: One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals.