Human Genes Group 7 Flashcards
TRBV7-2
T cell receptor beta variable 7-2 A0A1B0GXF2 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
UPP1
Uridine phosphorylase 1 (UPase 1) (UrdPase 1) (EC 2.2.3) Q16831 FUNCTION: Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate . The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis.
TRBV9
T cell receptor beta variable 9 A0A0B4J1U6 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRBV12-3
T cell receptor beta variable 12-3 (T-cell receptor beta chain V region YT35) P01733 FUNCTION: V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TXLNB
Beta-taxilin (Muscle-derived protein 77) (hMDP77) Q8N3L3 FUNCTION: Promotes motor nerve regeneration (By similarity). May be involved in intracellular vesicle traffic.
YAF2
YY1-associated factor 2 Q8IY57 FUNCTION: Binds to MYC and inhibits MYC-mediated transactivation. Also binds to MYCN and enhances MYCN-dependent transcriptional activation. Increases calpain 2-mediated proteolysis of YY1 in vitro. Component of the E2F6.com-1 complex, a repressive complex that methylates ‘Lys-9’ of histone H3, suggesting that it is involved in chromatin-remodeling.
UBR1
E3 ubiquitin-protein ligase UBR1 (EC 2.2.27) (N-recognin-1) (RING-type E3 ubiquitin transferase UBR1) (Ubiquitin-protein ligase E3-alpha-1) (Ubiquitin-protein ligase E3-alpha-I) Q8IWV7 FUNCTION: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. May be involved in pancreatic homeostasis. Binds leucine and is a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth.
ZBBX
Zinc finger B-box domain-containing protein 1 A8MT70
ZBED4
Zinc finger BED domain-containing protein 4 O75132 SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
ZBTB16
Zinc finger and BTB domain-containing protein 16 (Promyelocytic leukemia zinc finger protein) (Zinc finger protein 145) (Zinc finger protein PLZF) Q05516 FUNCTION: Acts as a transcriptional repressor . May play a role in myeloid maturation and in the development and/or maintenance of other differentiated tissues. Probable substrate-recognition component of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins .
UBXN10
UBX domain-containing protein 10 (UBX domain-containing protein 3) Q96LJ8 FUNCTION: VCP/p97-binding protein required for ciliogenesis . Acts as a tethering factor that facilitates recruitment of VCP/p97 to the intraflagellar transport complex B (IFT-B) in cilia . UBX domain-containing proteins act as tethering factors for VCP/p97 and may specify substrate specificity of VCP/p97 .
UCN2
Urocortin-2 (Stresscopin-related peptide) (Urocortin II) (Ucn II) (Urocortin-related peptide) Q96RP3 FUNCTION: Suppresses food intake, delays gastric emptying and decreases heat-induced edema. Might represent an endogenous ligand for maintaining homeostasis after stress. SUBCELLULAR LOCATION: Secreted.
UCP1
Mitochondrial brown fat uncoupling protein 1 (UCP 1) (Solute carrier family 25 member 7) (Thermogenin) P25874 FUNCTION: Mitochondrial protein responsible for thermogenic respiration, a specialized capacity of brown adipose tissue and beige fat that participates to non-shivering adaptive thermogenesis to temperature and diet variations and more generally to the regulation of energy balance (By similarity). Functions as a long-chain fatty acid/LCFA and proton symporter, simultaneously transporting one LCFA and one proton through the inner mitochondrial membrane . However, LCFAs remaining associated with the transporter via their hydrophobic tails, it results in an apparent transport of protons activated by LCFAs. Thereby, dissipates the mitochondrial proton gradient and converts the energy of substrate oxydation into heat instead of ATP. Regulates the production of reactive oxygen species/ROS by mitochondria (By similarity).
ZC3H14
Zinc finger CCCH domain-containing protein 14 (Mammalian suppressor of tau pathology-2) (MSUT-2) (Renal carcinoma antigen NY-REN-37) Q6PJT7 FUNCTION: Involved in poly(A) tail length control in neuronal cells. Binds the polyadenosine RNA oligonucleotides.
UGT1A6
UDP-glucuronosyltransferase 1-6 (UDPGT 1-6) (UGT1*6) (UGT1-06) (UGT1.6) (EC 2.1.17) (Phenol-metabolizing UDP-glucuronosyltransferase) (UDP-glucuronosyltransferase 1-F) (UGT-1F) (UGT1F) (UDP-glucuronosyltransferase 1A6) P19224 FUNCTION: UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform has specificity for phenols. Isoform 3 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).
ZDBF2
DBF4-type zinc finger-containing protein 2 Q9HCK1
ZDHHC17
Palmitoyltransferase ZDHHC17 (EC 2.1.225) (Huntingtin yeast partner H) (Huntingtin-interacting protein 14) (HIP-14) (Huntingtin-interacting protein 3) (HIP-3) (Huntingtin-interacting protein H) (Putative MAPK-activating protein PM11) (Putative NF-kappa-B-activating protein 205) (Zinc finger DHHC domain-containing protein 17) (DHHC-17) Q8IUH5 FUNCTION: Palmitoyltransferase specific for a subset of neuronal proteins, including SNAP25, DLG4/PSD95, GAD2, SYT1 and HTT (, , , ). May be involved in the sorting or targeting of critical proteins involved in the initiating events of endocytosis at the plasma membrane . May play a role in Mg(2+) transport .
UGT2B15
UDP-glucuronosyltransferase 2B15 (UDPGT 2B15) (EC 2.1.17) (HLUG4) (UDP-glucuronosyltransferase 2B8) (UDPGT 2B8) (UDPGTh-3) P54855 FUNCTION: UDPGTs are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isozyme displays activity toward several classes of xenobiotic substrates, including simple phenolic compounds, 7-hydroxylated coumarins, flavonoids, anthraquinones, and certain drugs and their hydroxylated metabolites. It also catalyzes the glucuronidation of endogenous estrogens and androgens. SUBCELLULAR LOCATION: Microsome membrane .
UFSP1
Inactive Ufm1-specific protease 1 (UfSP1) Q6NVU6
YME1L1
ATP-dependent zinc metalloprotease YME1L1 (EC 3.24.-) (ATP-dependent metalloprotease FtsH1) (Meg-4) (Presenilin-associated metalloprotease) (PAMP) (YME1-like protein 1) Q96TA2 FUNCTION: ATP-dependent metalloprotease that catalyzes the degradation of folded and unfolded proteins with a suitable degron sequence in the mitochondrial intermembrane region (, ). Plays an important role in regulating mitochondrial morphology and function by cleaving OPA1 at position S2, giving rise to a form of OPA1 that promotes maintenance of normal mitochondrial structure and mitochondrial protein metabolism (, , ). Ensures cell proliferation, maintains normal cristae morphology and complex I respiration activity, promotes antiapoptotic activity and protects mitochondria from the accumulation of oxidatively damaged membrane proteins . Required for normal, constitutive degradation of PRELID1 . Catalyzes the degradation of OMA1 in response to membrane depolarization . Required to control the accumulation of nonassembled respiratory chain subunits (NDUFB6, OX4 and ND1) .
TTC3
E3 ubiquitin-protein ligase TTC3 (EC 2.2.27) (Protein DCRR1) (RING finger protein 105) (RING-type E3 ubiquitin transferase TTC3) (TPR repeat protein D) (Tetratricopeptide repeat protein 3) (TPR repeat protein 3) P53804 FUNCTION: E3 ubiquitin-protein ligase which catalyzes the formation of ‘Lys-48’-polyubiquitin chains (, ). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus . Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation . Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 . Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (, ). Inhibits cell proliferation .
CCT6A
T-complex protein 1 subunit zeta (TCP-1-zeta) (Acute morphine dependence-related protein 2) (CCT-zeta-1) (HTR3) (Tcp20) P40227 FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis . The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance . The TRiC complex plays a role in the folding of actin and tubulin (Probable).
TIMELESS
Protein timeless homolog (hTIM) Q9UNS1 FUNCTION: Plays an important role in the control of DNA replication, maintenance of replication fork stability, maintenance of genome stability throughout normal DNA replication, DNA repair and in the regulation of the circadian clock (, , , , ). Required to stabilize replication forks during DNA replication by forming a complex with TIPIN: this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress (, ). TIMELESS promotes TIPIN nuclear localization (, ). Involved in cell survival after DNA damage or replication stress by promoting DNA repair (, , , ). In response to double-strand breaks (DSBs), accumulates at DNA damage sites and promotes homologous recombination repair via its interaction with PARP1 (, ). May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light . Involved in the determination of period length and in the DNA damage-dependent phase advancing of the circadian clock . Negatively regulates CLOCK|NPAS2-ARTNL/BMAL1|ARTNL2/BMAL2-induced transactivation of PER1 possibly via translocation of PER1 into the nucleus . May also play an important role in epithelial cell morphogenesis and formation of branching tubules (By similarity).
TCHHL1
Trichohyalin-like protein 1 (Basalin) (Protein S100-A17) (S100 calcium-binding protein A17) Q5QJ38