Other Proteins

L-Lactate Dehydrogenase B Chain (LDH-B) is a member of the lactate dehydrogenase family that consists of three members, LDH-A, LDH-B and LDH-C; members of this family function as powerful markers for germ cell tumors. LDH-B is an oxidoreductase that catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+. It converts pyruvate to lactate when oxygen is absent or in short supply and it performs the reverse reaction during the Cori cycle in the liver. It is also called Hydroxybutyrate Dehydrogenase (HBD) due to its ability to catalyze the oxidation of hydroxybutyrate.

Antisense inhibition of Rab5b, a gene coding for a small GTPase associated with endocytosis, significantly reduced the mGluR-mediated neuroprotection. Ras-related protein Rab-5B (RAB5B), which is identified by a genome-wide association study as a risk locus for this syndrome, encodes a small GTPase involved in the control of receptor internalization and early endosome fusion. Previous genome-wide sequencing revealed that RAB5B is a susceptible target in patients with polycystic ovary syndrome (PCOS). RAB5A gene was abnormally expressed in luteinized granulosa cells of obese patients with polycystic ovary syndrome, which may help explain high FSHR levels found in this syndrome. RAB5B is directly downregulated by miR-130a-3p. Knockdown of RAB5B also inhibited cell proliferation, migration, and invasion.

Phosphoinositide 3-kinase regulatory subunit 5 (PIK3R5; also PI3-kinase p101 subunit, Ptdlns-3-kinase p101, and p101-PI3K) is a 97 kDa regulatory subunit of the PI3K gamma complex. It is expressed as a heterodimer with the catalytic subunit PIK3CG/p120. Human PIK3R5 is 880 amino acids (aa) in length. The heterodimerization region is made up of aa 25-101, and aa 653-753 comprise the region for interaction with G beta gamma proteins. A second 55 kDa isoform is formed by the deletion of aa 1-386.

GLUT6 as a functionally uncharacterized transporter that putatively works in inflammatory responses. Inflammatory stimuli increase GLUT6 expression level, although GLUT6-knockout mice exhibit a subtle phenotype to lipopolysaccharide administration. Metabolomics and in vitro analyses show that GLUT6 functions as a glycolysis modulator in inflammatory macrophages. GLUT6 does not mediate glucose uptake and is localized on lysosomal membranes. We conclude that GLUT6 is a lysosomal transporter that is regulated by inflammatory stimuli and modulates inflammatory responses by affecting the metabolic shift in macrophages.

γ-aminobutyric acid type A receptor β3 subunit (GABRB3) is a candidate gene for autism spectrum conditions (ASC). Alteration in the gene results in increased tactile sensitivity, or hypersensitivity.Overexpression of GABRB3 might be implicated in the pathogenesis of heroin dependence. Aberration or mutation of this gene leads to neurodevelopmental disorders, such as Angelman syndrome, Prader-Willi syndrome and schizophrenia.[1][3] GABRB3 polymorphisms results in nonsyndromic cleft lip and/or palate (NSCL/P).

Ataxin-3 is a ubiquitously expressed nuclear protein that serves as a deubiquitinating enzyme (DUB) involved in protein homeostasis and quality control, myogenesis and degradation of misfolded chaperone substrates. As a DUB, it has two distinct features. Its N-terminal Josephin domain confers cysteine protease activity to Ataxin-3 which is important for hydrolyzing ubiquitin (Ub) linkages. The second important feature is its three Ub-interacting motifs (UIMs) through which it binds Ub conjugates and ubiquitinated proteins and bring them into proximity to trim or edit specific linkages within these Ub conjugates. It binds long poly-Ub chains and trims them. However, it has weak or no activity against chains of 4 or less Ub.

This gene encodes proline-rich gamma-carboxyglutamic acid protein 3, a member of vitamin K-dependent membrane proteins containing gamma-carboxyglutamic acid residues. The encoded precursor protein contains an N-terminal propeptide that is required for the carboxylation of glutamate residues in the mature protein. Alternate splicing of this gene results in multiple transcript variants that encode the same protein.

The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene.

XIAP (X-chromosome linked inhibitor of apoptosis) is a member of the apoptosis (IAP) family of proteins that inhibit caspases. The BIR2 domain of XIAP inhibits caspase-3 and caspase-7. The ability of XIAP to inhibit caspases is prevented by SMAC/Diablo through binding to XIAP-BIR2 and -BIR3 domains.