UniProtKB - Q96CS3 (FAF2_HUMAN)
FAS-associated factor 2
FAF2
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 PublicationsMiscellaneous
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 droplet organization Source: MGI
- response to unfolded protein Source: UniProtKB-KW
- retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
- ubiquitin-dependent ERAD pathway Source: UniProtKB
Keywordsi
Biological process | Unfolded protein response |
Enzyme and pathway databases
PathwayCommonsi | Q96CS3 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-8980692, RHOA GTPase cycle |
SignaLinki | Q96CS3 |
Names & Taxonomyi
Protein namesi | Recommended name: FAS-associated factor 2Alternative name(s): Protein ETEA UBX domain-containing protein 3B UBX domain-containing protein 8 |
Gene namesi | Name:FAF2 Synonyms:ETEA, KIAA0887, UBXD8, UBXN3B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:24666, FAF2 |
MIMi | 616935, gene |
neXtProti | NX_Q96CS3 |
VEuPathDBi | HostDB:ENSG00000113194 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 2 Publications
Other locations
- Lipid droplet 2 Publications
Endoplasmic reticulum
- endoplasmic reticulum Source: HPA
- VCP-NPL4-UFD1 AAA ATPase complex Source: BHF-UCL
Extracellular region or secreted
- extracellular region Source: Reactome
Lysosome
- azurophil granule lumen Source: Reactome
Other locations
- lipid droplet Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Endoplasmic reticulum, Lipid dropletPathology & Biotechi
Organism-specific databases
DisGeNETi | 23197 |
OpenTargetsi | ENSG00000113194 |
PharmGKBi | PA162385570 |
Miscellaneous databases
Pharosi | Q96CS3, Tbio |
Genetic variation databases
BioMutai | FAF2 |
DMDMi | 74731375 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000244064 | 2 – 445 | FAS-associated factor 2Add BLAST | 444 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 167 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | Q96CS3 |
jPOSTi | Q96CS3 |
MassIVEi | Q96CS3 |
MaxQBi | Q96CS3 |
PaxDbi | Q96CS3 |
PeptideAtlasi | Q96CS3 |
PRIDEi | Q96CS3 |
ProteomicsDBi | 76214 |
PTM databases
GlyGeni | Q96CS3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96CS3 |
MetOSitei | Q96CS3 |
PhosphoSitePlusi | Q96CS3 |
SwissPalmi | Q96CS3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000113194, Expressed in testis and 238 other tissues |
ExpressionAtlasi | Q96CS3, baseline and differential |
Genevisiblei | Q96CS3, HS |
Organism-specific databases
HPAi | ENSG00000113194, Low tissue specificity |
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).
Interacts with LMBR1L (PubMed:31073040).
1 Publication5 PublicationsBinary interactionsi
GO - Molecular functioni
- lipase binding Source: MGI
- ubiquitin binding Source: BHF-UCL
- ubiquitin protein ligase binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 116806, 400 interactors |
CORUMi | Q96CS3 |
DIPi | DIP-46261N |
IntActi | Q96CS3, 171 interactors |
MINTi | Q96CS3 |
STRINGi | 9606.ENSP00000261942 |
Miscellaneous databases
RNActi | Q96CS3, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q96CS3 |
BMRBi | Q96CS3 |
SMRi | Q96CS3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96CS3 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 12 – 48 | UBAAdd BLAST | 37 | |
Domaini | 357 – 439 | UBXPROSITE-ProRule annotationAdd BLAST | 83 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 299 – 361 | DisorderedSequence analysisAdd BLAST | 63 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 275 – 350 | Sequence analysisAdd BLAST | 76 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 300 – 353 | Basic and acidic residuesSequence analysisAdd BLAST | 54 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG1363, Eukaryota |
GeneTreei | ENSGT00940000157197 |
HOGENOMi | CLU_047924_0_0_1 |
InParanoidi | Q96CS3 |
OMAi | HTLFWAC |
OrthoDBi | 1251507at2759 |
PhylomeDBi | Q96CS3 |
TreeFami | TF314172 |
Family and domain databases
InterProi | View protein in InterPro IPR036249, Thioredoxin-like_sf IPR006577, UAS IPR009060, UBA-like_sf IPR029071, Ubiquitin-like_domsf IPR001012, UBX_dom |
Pfami | View protein in Pfam PF00789, UBX, 1 hit |
SMARTi | View protein in SMART SM00594, UAS, 1 hit |
SUPFAMi | SSF46934, SSF46934, 1 hit SSF52833, SSF52833, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS50033, UBX, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6RBG6 | D6RBG6_HUMAN | FAS-associated factor 2 | FAF2 | 48 | Annotation score: |
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 |
CCDSi | CCDS34296.1 |
RefSeqi | NP_055428.1, NM_014613.2 |
Genome annotation databases
Ensembli | ENST00000261942.7; ENSP00000261942.6; ENSG00000113194.13 |
GeneIDi | 23197 |
KEGGi | hsa:23197 |
MANE-Selecti | ENST00000261942.7; ENSP00000261942.6; NM_014613.3; NP_055428.1 |
UCSCi | uc003mej.4, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS34296.1 |
RefSeqi | NP_055428.1, NM_014613.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2DAM | NMR | - | A | 3-56 | [»] | |
AlphaFoldDBi | Q96CS3 | |||||
BMRBi | Q96CS3 | |||||
SMRi | Q96CS3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116806, 400 interactors |
CORUMi | Q96CS3 |
DIPi | DIP-46261N |
IntActi | Q96CS3, 171 interactors |
MINTi | Q96CS3 |
STRINGi | 9606.ENSP00000261942 |
PTM databases
GlyGeni | Q96CS3, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q96CS3 |
MetOSitei | Q96CS3 |
PhosphoSitePlusi | Q96CS3 |
SwissPalmi | Q96CS3 |
Genetic variation databases
BioMutai | FAF2 |
DMDMi | 74731375 |
Proteomic databases
EPDi | Q96CS3 |
jPOSTi | Q96CS3 |
MassIVEi | Q96CS3 |
MaxQBi | Q96CS3 |
PaxDbi | Q96CS3 |
PeptideAtlasi | Q96CS3 |
PRIDEi | Q96CS3 |
ProteomicsDBi | 76214 |
Protocols and materials databases
Antibodypediai | 29092, 200 antibodies from 35 providers |
DNASUi | 23197 |
Genome annotation databases
Ensembli | ENST00000261942.7; ENSP00000261942.6; ENSG00000113194.13 |
GeneIDi | 23197 |
KEGGi | hsa:23197 |
MANE-Selecti | ENST00000261942.7; ENSP00000261942.6; NM_014613.3; NP_055428.1 |
UCSCi | uc003mej.4, human |
Organism-specific databases
CTDi | 23197 |
DisGeNETi | 23197 |
GeneCardsi | FAF2 |
HGNCi | HGNC:24666, FAF2 |
HPAi | ENSG00000113194, Low tissue specificity |
MIMi | 616935, gene |
neXtProti | NX_Q96CS3 |
OpenTargetsi | ENSG00000113194 |
PharmGKBi | PA162385570 |
VEuPathDBi | HostDB:ENSG00000113194 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1363, Eukaryota |
GeneTreei | ENSGT00940000157197 |
HOGENOMi | CLU_047924_0_0_1 |
InParanoidi | Q96CS3 |
OMAi | HTLFWAC |
OrthoDBi | 1251507at2759 |
PhylomeDBi | Q96CS3 |
TreeFami | TF314172 |
Enzyme and pathway databases
PathwayCommonsi | Q96CS3 |
Reactomei | R-HSA-6798695, Neutrophil degranulation R-HSA-8980692, RHOA GTPase cycle |
SignaLinki | Q96CS3 |
Miscellaneous databases
BioGRID-ORCSi | 23197, 296 hits in 1080 CRISPR screens |
ChiTaRSi | FAF2, human |
EvolutionaryTracei | Q96CS3 |
GenomeRNAii | 23197 |
Pharosi | Q96CS3, Tbio |
PROi | PR:Q96CS3 |
RNActi | Q96CS3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000113194, Expressed in testis and 238 other tissues |
ExpressionAtlasi | Q96CS3, baseline and differential |
Genevisiblei | Q96CS3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR036249, Thioredoxin-like_sf IPR006577, UAS IPR009060, UBA-like_sf IPR029071, Ubiquitin-like_domsf IPR001012, UBX_dom |
Pfami | View protein in Pfam PF00789, UBX, 1 hit |
SMARTi | View protein in SMART SM00594, UAS, 1 hit |
SUPFAMi | SSF46934, SSF46934, 1 hit SSF52833, SSF52833, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS50033, UBX, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | FAF2_HUMAN | |
Accessioni | Q96CS3Primary (citable) accession number: Q96CS3 Secondary accession number(s): O94963 Q9BVM7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 27, 2006 |
Last sequence update: | March 1, 2004 | |
Last modified: | May 25, 2022 | |
This is version 171 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references