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Tbio FAS-associated factor 2

Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis (PubMed:23297223).

The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 17
PubMed Score 26.90
PubTator Score 12.24

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Prostatic Neoplasms 471
Disease Target Count P-value
lung adenocarcinoma 2714 5.6e-07
Pick disease 1893 2.5e-05
ovarian cancer 8491 8.3e-05
osteosarcoma 7933 2.2e-03
Disease Target Count Z-score Confidence
Enophthalmos 12 4.437 2.2

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -1.101 2.2e-03
lung adenocarcinoma 1.300 5.6e-07
Pick disease 1.100 2.5e-05
ovarian cancer 1.400 8.3e-05

Synonym

Accession Q96CS3 O94963 Q8IUF2 Q9BRP2 Q9BVM7
Symbols ETEA
UBXD8
UBXN3B

Gene

FAF2

PDB

2DAM  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (9)

 GO Function (4)

 GO Component (3)

 GO Process (4)

 Compartment GO Term (29)

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 MGI Phenotype (3)

 HCA RNA Cell Line (56)

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Pathway (4)

Protein-protein Interaction (30)

VPS52   TIMM29   ATAD1   ATG9A   UBB   RRM2   VRK2   VPS13A   DERL2   KIDINS220   TRO   SARAF   ECSIT   INTS4   VPS13C   MFN1   XPR1   STOM   CAV1   SQLE   ACAD9   EVI5L   INTS7   TMEM159   TARBP1   MCM9   SLC26A6   ARL14EP   MCUB   MCUR1  

Gene RIF (8)

PMID Text
24378746 role of UBXD8 in cellular responses to excess fatty acids
23720822 the UAS domain of Ubxd8 mediates it's polymerization upon interaction with long-chain unsaturated fatty acids
23297223 UBXD8-mediated recruitment of p97/VCP to LDs increases lipid droplet (LD) size by inhibiting the activity of adipose triglyceride lipase (ATGL), the rate-limiting enzyme in triacylglycerol hydrolysis.
22454508 Ubx2 and Ubxd8 regulates lipid droplet homeostasis.
22238364 These results indicate that ApoB after lipidation is dislocated from the ER lumen to the LD surface for proteasomal degradation and that Derlin-1 and UBXD8 are engaged in the predislocation and postdislocation steps, respectively.
21115839 These results suggest that Ubxd8 acts as a brake that limits triglyceride synthesis, and this brake is released when its structure is altered by exposure to unsaturated fatty acids.
20160012 These findings provide evidence for conserved ubiquitination pathways regulating the RasGAP proteins Ira2 (in yeast) and neurofibromin (in humans).
12372427 ETEA may play a role in the regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients

AA Sequence 

MAAPEERDLTQEQTEKLLQFQDLTGIESMDQCRHTLEQHNWNIEAAVQDRLNEQEGVPSVFNPPPSRPLQ      1 - 70
VNTADHRIYSYVVSRPQPRGLLGWGYYLIMLPFRFTYYTILDIFRFALRFIRPDPRSRVTDPVGDIVSFM     71 - 140
HSFEEKYGRAHPVFYQGTYSQALNDAKRELRFLLVYLHGDDHQDSDEFCRNTLCAPEVISLINTRMLFWA    141 - 210
CSTNKPEGYRVSQALRENTYPFLAMIMLKDRRMTVVGRLEGLIQPDDLINQLTFIMDANQTYLVSERLER    211 - 280
EERNQTQVLRQQQDEAYLASLRADQEKERKKREERERKRRKEEEVQQQKLAEERRRQNLQEEKERKLECL    281 - 350
PPEPSPDDPESVKIIFKLPNDSRVERRFHFSQSLTVIHDFLFSLKESPEKFQIEANFPRRVLPCIPSEEW    351 - 420
PNPPTLQEAGLSHTEVLFVQDLTDE                                                 421 - 445
//

Text Mined References (24)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25660456 2015 Identification of ERAD components essential for dislocation of the null Hong Kong variant of ?-1-antitrypsin (NHK).
24378746 2014 Cellular responses to excess fatty acids: focus on ubiquitin regulatory X domain-containing protein 8.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24215460 2014 Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation.
23720822 2013 UAS domain of Ubxd8 and FAF1 polymerizes upon interaction with long-chain unsaturated fatty acids.
23297223 2013 Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid droplet turnover.
22454508 2012 The ubiquitin-like (UBX)-domain-containing protein Ubx2/Ubxd8 regulates lipid droplet homeostasis.
22238364 2012 Derlin-1 and UBXD8 are engaged in dislocation and degradation of lipidated ApoB-100 at lipid droplets.
21269460 2011 Initial characterization of the human central proteome.
21115839 2010 Identification of Ubxd8 protein as a sensor for unsaturated fatty acids and regulator of triglyceride synthesis.
20160012 2010 The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans.
19818707 2009 The otubain YOD1 is a deubiquitinating enzyme that associates with p97 to facilitate protein dislocation from the ER.
19773358 2009 Targeting sequences of UBXD8 and AAM-B reveal that the ER has a direct role in the emergence and regression of lipid droplets.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18775313 2008 UBXD7 binds multiple ubiquitin ligases and implicates p97 in HIF1alpha turnover.
18711132 2008 SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14741744 2004 Identification of major proteins in the lipid droplet-enriched fraction isolated from the human hepatocyte cell line HuH7.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12372427 2002 Cloning and characterization of the highly expressed ETEA gene from blood cells of atopic dermatitis patients.
10048485 1998 Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.