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Protein

FAS-associated factor 2

Gene

FAF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). 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).4 Publications

Miscellaneous

Up-regulated in T-cells and eosinophils from patients with atopic dermatitis.

GO - Molecular functioni

  • lipase binding Source: MGI
  • lipase inhibitor activity Source: MGI
  • ubiquitin binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL

GO - Biological processi

  • lipid particle organization Source: MGI
  • neutrophil degranulation Source: Reactome
  • response to unfolded protein Source: UniProtKB-KW
  • retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • ubiquitin-dependent ERAD pathway Source: UniProtKB

Keywordsi

Biological processUnfolded protein response

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation

Names & Taxonomyi

Protein namesi
Recommended name:
FAS-associated factor 2
Alternative name(s):
Protein ETEA
UBX domain-containing protein 3B
UBX domain-containing protein 8
Gene namesi
Name:FAF2
Synonyms:ETEA, KIAA0887, UBXD8, UBXN3B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113194.12
HGNCiHGNC:24666 FAF2
MIMi616935 gene
neXtProtiNX_Q96CS3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Lipid droplet

Pathology & Biotechi

Organism-specific databases

DisGeNETi23197
OpenTargetsiENSG00000113194
PharmGKBiPA162385570

Polymorphism and mutation databases

BioMutaiFAF2
DMDMi74731375

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002440642 – 445FAS-associated factor 2Add BLAST444

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei167N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ96CS3
MaxQBiQ96CS3
PaxDbiQ96CS3
PeptideAtlasiQ96CS3
PRIDEiQ96CS3
ProteomicsDBi76214

PTM databases

iPTMnetiQ96CS3
PhosphoSitePlusiQ96CS3
SwissPalmiQ96CS3

Expressioni

Tissue specificityi

Broadly expressed, with highest levels in brain.1 Publication

Gene expression databases

BgeeiENSG00000113194
CleanExiHS_FAF2
ExpressionAtlasiQ96CS3 baseline and differential
GenevisibleiQ96CS3 HS

Organism-specific databases

HPAiHPA065968
HPA071246
HPA073828

Interactioni

Subunit structurei

Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1 (PubMed:18711132). Interacts with YOD1 (PubMed:19818707). Interacts (via N-terminus) with UBQLN2 (via C-terminus) (PubMed:24215460). Interacts with PNPLA2 and UBAC2 (PubMed:23297223). Interacts with ZFAND2B; probably through VCP (PubMed:24160817).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
VCPP550723EBI-1055805,EBI-355164

GO - Molecular functioni

  • lipase binding Source: MGI
  • ubiquitin binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi116806, 243 interactors
CORUMiQ96CS3
DIPiDIP-46261N
IntActiQ96CS3, 62 interactors
MINTiQ96CS3
STRINGi9606.ENSP00000261942

Structurei

Secondary structure

1445
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi11 – 24Combined sources14
Helixi29 – 39Combined sources11
Helixi43 – 52Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DAMNMR-A3-56[»]
ProteinModelPortaliQ96CS3
SMRiQ96CS3
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96CS3

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini12 – 48UBAAdd BLAST37
Domaini357 – 439UBXPROSITE-ProRule annotationAdd BLAST83

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili275 – 350Sequence analysisAdd BLAST76

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1363 Eukaryota
ENOG410XSFS LUCA
GeneTreeiENSGT00530000063422
HOGENOMiHOG000007539
HOVERGENiHBG101311
InParanoidiQ96CS3
KOiK18726
OMAiSLRCTKF
OrthoDBiEOG091G07IN
PhylomeDBiQ96CS3
TreeFamiTF314172

Family and domain databases

InterProiView protein in InterPro
IPR036249 Thioredoxin-like_sf
IPR006577 UAS
IPR009060 UBA-like_sf
IPR029071 Ubiquitin-like_domsf
IPR001012 UBX_dom
PfamiView protein in Pfam
PF00789 UBX, 1 hit
SMARTiView protein in SMART
SM00594 UAS, 1 hit
SUPFAMiSSF46934 SSF46934, 1 hit
SSF52833 SSF52833, 1 hit
SSF54236 SSF54236, 1 hit
PROSITEiView protein in PROSITE
PS50033 UBX, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q96CS3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAPEERDLT QEQTEKLLQF QDLTGIESMD QCRHTLEQHN WNIEAAVQDR
60 70 80 90 100
LNEQEGVPSV FNPPPSRPLQ VNTADHRIYS YVVSRPQPRG LLGWGYYLIM
110 120 130 140 150
LPFRFTYYTI LDIFRFALRF IRPDPRSRVT DPVGDIVSFM HSFEEKYGRA
160 170 180 190 200
HPVFYQGTYS QALNDAKREL RFLLVYLHGD DHQDSDEFCR NTLCAPEVIS
210 220 230 240 250
LINTRMLFWA CSTNKPEGYR VSQALRENTY PFLAMIMLKD RRMTVVGRLE
260 270 280 290 300
GLIQPDDLIN QLTFIMDANQ TYLVSERLER EERNQTQVLR QQQDEAYLAS
310 320 330 340 350
LRADQEKERK KREERERKRR KEEEVQQQKL AEERRRQNLQ EEKERKLECL
360 370 380 390 400
PPEPSPDDPE SVKIIFKLPN DSRVERRFHF SQSLTVIHDF LFSLKESPEK
410 420 430 440
FQIEANFPRR VLPCIPSEEW PNPPTLQEAG LSHTEVLFVQ DLTDE
Length:445
Mass (Da):52,623
Last modified:March 1, 2004 - v2
Checksum:iD5510BCB0623096B
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB088120 mRNA Translation: BAC22491.1
BC001069 mRNA Translation: AAH01069.2
BC006145 mRNA Translation: AAH06145.2
BC014001 mRNA Translation: AAH14001.2
AB020694 mRNA Translation: BAA74910.1
CCDSiCCDS34296.1
RefSeqiNP_055428.1, NM_014613.2
UniGeneiHs.484242

Genome annotation databases

EnsembliENST00000261942; ENSP00000261942; ENSG00000113194
GeneIDi23197
KEGGihsa:23197
UCSCiuc003mej.4 human

Similar proteinsi

Entry informationi

Entry nameiFAF2_HUMAN
AccessioniPrimary (citable) accession number: Q96CS3
Secondary accession number(s): O94963
, Q8IUF2, Q9BRP2, Q9BVM7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: March 1, 2004
Last modified: June 20, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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