Human Genes Group 4 Flashcards
FAM117B
Protein FAM117B (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 13 protein) Q6P1L5
FGB
Fibrinogen beta chain [Cleaved into: Fibrinopeptide B; Fibrinogen beta chain] P02675 FUNCTION: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the antibacterial immune response via both innate and T-cell mediated pathways.
BECN1
Beclin-1 (Coiled-coil myosin-like BCL2-interacting protein) (Protein GT197) [Cleaved into: Beclin-1-C 35 kDa; Beclin-1-C 37 kDa] Q14457 FUNCTION: Plays a central role in autophagy (, ). Acts as core subunit of the PI3K complex that mediates formation of phosphatidylinositol 3-phosphate; different complex forms are believed to play a role in multiple membrane trafficking pathways: PI3KC3-C1 is involved in initiation of autophagosomes and PI3KC3-C2 in maturation of autophagosomes and endocytosis. Involved in regulation of degradative endocytic trafficking and required for the abcission step in cytokinesis, probably in the context of PI3KC3-C2 (, , ). Essential for the formation of PI3KC3-C2 but not PI3KC3-C1 PI3K complex forms. Involved in endocytosis . Protects against infection by a neurovirulent strain of Sindbis virus . May play a role in antiviral host defense.
FLVCR1
Feline leukemia virus subgroup C receptor-related protein 1 (Feline leukemia virus subgroup C receptor) (hFLVCR) Q9Y5Y0 FUNCTION: [Isoform 1]: Heme transporter that exports cytoplasmic heme. It can also export coproporphyrin and protoporphyrin IX, which are both intermediate products in the heme biosynthetic pathway. Does not export bilirubin. Heme export depends on the presence of HPX and is required to maintain intracellular free heme balance, protecting cells from heme toxicity. Heme export provides protection from heme or ferrous iron toxicities in liver, brain, sensory neurons and during erythtopoiesis, a process in which heme synthesis intensifies. Causes susceptibility to FeLV-C in vitro.
ATP2B1
Plasma membrane calcium-transporting ATPase 1 (EC 7.2.10) (Plasma membrane calcium ATPase isoform 1) (PMCA1) (Plasma membrane calcium pump isoform 1) P20020 FUNCTION: Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis. Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells .
FLVCR2
Feline leukemia virus subgroup C receptor-related protein 2 (Calcium-chelate transporter) (CCT) Q9UPI3 FUNCTION: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
ATP2B2
Plasma membrane calcium-transporting ATPase 2 (PMCA2) (EC 7.2.10) (Plasma membrane calcium ATPase isoform 2) (Plasma membrane calcium pump isoform 2) Q01814 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell. SUBCELLULAR LOCATION: Cell junction, synapse .
C20orf194
Uncharacterized protein C20orf194 Q5TEA3 FUNCTION: May act as an effector for ARL3.
APMAP
Adipocyte plasma membrane-associated protein (Protein BSCv) Q9HDC9 FUNCTION: Exhibits strong arylesterase activity with beta-naphthyl acetate and phenyl acetate. May play a role in adipocyte differentiation.
C20orf197
Uncharacterized protein C20orf197 Q8N268
FAM120B
Constitutive coactivator of peroxisome proliferator-activated receptor gamma (Constitutive coactivator of PPAR-gamma) (Constitutive coactivator of PPARG) (PPARG constitutive coactivator 1) (PGCC1) (Protein FAM120B) Q96EK7 FUNCTION: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity).
CT45A1
Cancer/testis antigen family 45 member A1 (Cancer/testis antigen 45-1) (Cancer/testis antigen 45A1) Q5HYN5
CT45A9
Cancer/testis antigen family 45 member A9 (Cancer/testis antigen 45A9) P0DMV2
CT45A5
Cancer/testis antigen family 45 member A5 (Cancer/testis antigen 45-5) (Cancer/testis antigen 45A5) P0DMU8
ARG1
Arginase-1 (EC 3.3.1) (Liver-type arginase) (Type I arginase) P05089 FUNCTION: Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys.
BEND2
BEN domain-containing protein 2 Q8NDZ0
CT45A8
Cancer/testis antigen family 45 member A8 (Cancer/testis antigen 45A8) P0DMV1
ATP2C2
Calcium-transporting ATPase type 2C member 2 (ATPase 2C2) (EC 7.2.10) (Secretory pathway Ca(2+)-ATPase 2) O75185 FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.
BEND6
BEN domain-containing protein 6 Q5SZJ8 FUNCTION: Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis .
CTDNEP1
CTD nuclear envelope phosphatase 1 (EC 3.3.16) (Serine/threonine-protein phosphatase dullard) O95476 FUNCTION: Serine/threonine protein phosphatase forming with CNEP1R1 an active phosphatase complex that dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. May antagonize BMP signaling. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Nucleus membrane; Single-pass membrane protein.
BEND7
BEN domain-containing protein 7 Q8N7W2
GLTPD2
Glycolipid transfer protein domain-containing protein 2 A6NH11
FAM124A
Protein FAM124A Q86V42