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Protein

FAS-associated factor 1

Gene

FAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Potentiates but cannot initiate FAS-induced apoptosis.

GO - Molecular functioni

  • heat shock protein binding Source: UniProtKB
  • NF-kappaB binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • protein kinase regulator activity Source: UniProtKB
  • ubiquitin binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • cell death Source: UniProtKB
  • cytoplasmic sequestering of NF-kappaB Source: UniProtKB
  • positive regulation of apoptotic process Source: UniProtKB
  • positive regulation of cell death Source: CACAO
  • positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  • positive regulation of protein complex assembly Source: UniProtKB
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: UniProtKB
  • regulation of cell adhesion Source: Ensembl
  • regulation of protein catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:G66-31779-MONOMER.
SignaLinkiQ9UNN5.
SIGNORiQ9UNN5.

Names & Taxonomyi

Protein namesi
Recommended name:
FAS-associated factor 1
Short name:
hFAF1
Alternative name(s):
UBX domain-containing protein 12
UBX domain-containing protein 3A
Gene namesi
Name:FAF1
Synonyms:UBXD12, UBXN3A
ORF Names:CGI-03
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:3578. FAF1.

Subcellular locationi

GO - Cellular componenti

  • CD95 death-inducing signaling complex Source: UniProtKB
  • cytosol Source: UniProtKB
  • nuclear envelope Source: Ensembl
  • nucleus Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
  • VCP-NPL4-UFD1 AAA ATPase complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi11124.
OpenTargetsiENSG00000185104.
PharmGKBiPA27976.

Polymorphism and mutation databases

BioMutaiFAF1.
DMDMi20454906.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002110381 – 650FAS-associated factor 1Add BLAST650

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei320PhosphoserineCombined sources1
Modified residuei580PhosphothreonineCombined sources1
Modified residuei582PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UNN5.
PaxDbiQ9UNN5.
PeptideAtlasiQ9UNN5.
PRIDEiQ9UNN5.

PTM databases

iPTMnetiQ9UNN5.
PhosphoSitePlusiQ9UNN5.

Expressioni

Tissue specificityi

Most abundant in testis, slightly less abundant in skeletal muscle and heart, followed by prostate, thymus, ovary, small intestine, and colon. Not detected in the peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000185104.
CleanExiHS_FAF1.
ExpressionAtlasiQ9UNN5. baseline and differential.
GenevisibleiQ9UNN5. HS.

Organism-specific databases

HPAiCAB072814.
HPA018253.

Interactioni

Subunit structurei

Specifically interacts with the cytoplasmic domain of FAS. Interacts with NLRP12 DAPIN/PYRIN domain via its UBA domain.1 Publication

GO - Molecular functioni

  • heat shock protein binding Source: UniProtKB
  • NF-kappaB binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB
  • ubiquitin binding Source: BHF-UCL
  • ubiquitin protein ligase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi116298. 128 interactors.
DIPiDIP-38245N.
IntActiQ9UNN5. 50 interactors.
MINTiMINT-88745.
STRINGi9606.ENSP00000360843.

Structurei

Secondary structure

1650
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi7 – 18Combined sources12
Helixi23 – 32Combined sources10
Turni33 – 35Combined sources3
Helixi37 – 41Combined sources5
Beta strandi100 – 106Combined sources7
Beta strandi111 – 117Combined sources7
Helixi122 – 133Combined sources12
Turni137 – 139Combined sources3
Beta strandi146 – 148Combined sources3
Helixi156 – 159Combined sources4
Beta strandi163 – 169Combined sources7
Beta strandi172 – 174Combined sources3
Helixi330 – 345Combined sources16
Helixi357 – 362Combined sources6
Beta strandi365 – 367Combined sources3
Turni369 – 371Combined sources3
Beta strandi374 – 380Combined sources7
Helixi386 – 393Combined sources8
Turni394 – 396Combined sources3
Helixi398 – 406Combined sources9
Beta strandi408 – 414Combined sources7
Helixi418 – 431Combined sources14
Helixi434 – 442Combined sources9
Beta strandi449 – 454Combined sources6
Beta strandi463 – 467Combined sources5
Helixi473 – 490Combined sources18
Beta strandi573 – 579Combined sources7
Beta strandi585 – 591Combined sources7
Helixi596 – 605Combined sources10
Turni610 – 612Combined sources3
Beta strandi613 – 616Combined sources4
Beta strandi618 – 620Combined sources3
Helixi624 – 626Combined sources3
Turni633 – 637Combined sources5
Beta strandi640 – 648Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H8CNMR-A569-650[»]
2DZMNMR-A99-191[»]
2EC4NMR-A325-495[»]
3E21X-ray1.73A5-47[»]
3QC8X-ray2.20B571-650[»]
3QCAX-ray2.90A/B/C/D571-650[»]
3QQ8X-ray2.00B568-650[»]
3QWZX-ray2.00B571-650[»]
3QX1X-ray1.60A/B571-650[»]
3R3MX-ray3.00A/B/C/D568-650[»]
ProteinModelPortaliQ9UNN5.
SMRiQ9UNN5.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UNN5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 57UBAAdd BLAST57
Domaini569 – 646UBXPROSITE-ProRule annotationAdd BLAST78

Sequence similaritiesi

Contains 1 UBA domain.Curated
Contains 1 UBX domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IPG5. Eukaryota.
ENOG410Z9BT. LUCA.
GeneTreeiENSGT00530000063422.
HOGENOMiHOG000043073.
HOVERGENiHBG002876.
InParanoidiQ9UNN5.
KOiK20703.
OMAiVLSNVFC.
OrthoDBiEOG091G04LQ.
PhylomeDBiQ9UNN5.
TreeFamiTF314172.

Family and domain databases

InterProiIPR033043. FAF1.
IPR012336. Thioredoxin-like_fold.
IPR006577. UAS.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PANTHERiPTHR23322:SF29. PTHR23322:SF29. 3 hits.
PfamiPF00789. UBX. 1 hit.
[Graphical view]
SMARTiSM00594. UAS. 1 hit.
SM00166. UBX. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
SSF54236. SSF54236. 3 hits.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: Q9UNN5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASNMDREMI LADFQACTGI ENIDEAITLL EQNNWDLVAA INGVIPQENG
60 70 80 90 100
ILQSEYGGET IPGPAFNPAS HPASAPTSSS SSAFRPVMPS RQIVERQPRM
110 120 130 140 150
LDFRVEYRDR NVDVVLEDTC TVGEIKQILE NELQIPVSKM LLKGWKTGDV
160 170 180 190 200
EDSTVLKSLH LPKNNSLYVL TPDLPPPSSS SHAGALQESL NQNFMLIITH
210 220 230 240 250
REVQREYNLN FSGSSTIQEV KRNVYDLTSI PVRHQLWEGW PTSATDDSMC
260 270 280 290 300
LAESGLSYPC HRLTVGRRSS PAQTREQSEE QITDVHMVSD SDGDDFEDAT
310 320 330 340 350
EFGVDDGEVF GMASSALRKS PMMPENAENE GDALLQFTAE FSSRYGDCHP
360 370 380 390 400
VFFIGSLEAA FQEAFYVKAR DRKLLAIYLH HDESVLTNVF CSQMLCAESI
410 420 430 440 450
VSYLSQNFIT WAWDLTKDSN RARFLTMCNR HFGSVVAQTI RTQKTDQFPL
460 470 480 490 500
FLIIMGKRSS NEVLNVIQGN TTVDELMMRL MAAMEIFTAQ QQEDIKDEDE
510 520 530 540 550
REARENVKRE QDEAYRLSLE ADRAKREAHE REMAEQFRLE QIRKEQEEER
560 570 580 590 600
EAIRLSLEQA LPPEPKEENA EPVSKLRIRT PSGEFLERRF LASNKLQIVF
610 620 630 640 650
DFVASKGFPW DEYKLLSTFP RRDVTQLDPN KSLLEVKLFP QETLFLEAKE
Length:650
Mass (Da):73,954
Last modified:May 2, 2002 - v2
Checksum:i7FB9018B9A230488
GO
Isoform Short (identifier: Q9UNN5-2) [UniParc]FASTAAdd to basket
Also known as: hFAF1(s)

The sequence of this isoform differs from the canonical sequence as follows:
     188-339: Missing.

Note: No experimental confirmation available.
Show »
Length:498
Mass (Da):56,934
Checksum:iA9B444F8E8257017
GO

Sequence cautioni

The sequence AAD51876 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti448F → K in AAD51886 (PubMed:10462485).Curated1
Sequence conflicti448F → K in AAD51876 (PubMed:10462485).Curated1
Sequence conflicti498E → G in AAD51886 (PubMed:10462485).Curated1
Sequence conflicti498E → G in AAD51876 (PubMed:10462485).Curated1
Sequence conflicti529H → R in AAD51886 (PubMed:10462485).Curated1
Sequence conflicti529H → R in AAD51876 (PubMed:10462485).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006704188 – 339Missing in isoform Short. 1 PublicationAdd BLAST152

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF106798 mRNA. Translation: AAD51886.1.
AF094700 mRNA. Translation: AAD51876.1. Different initiation.
AF136173 mRNA. Translation: AAP97263.1.
AJ271408 mRNA. Translation: CAB67705.1.
AF132938 mRNA. Translation: AAD27713.1.
AL359977
, AC091610, AC118557, AL049637, AL603746 Genomic DNA. Translation: CAH70189.1.
AL603746
, AC091610, AC118557, AL049637, AL359977 Genomic DNA. Translation: CAH72113.1.
CH471059 Genomic DNA. Translation: EAX06837.1.
BC004970 mRNA. Translation: AAH04970.1.
BC067100 mRNA. Translation: AAH67100.1.
AL133631 mRNA. Translation: CAB63755.1.
CCDSiCCDS554.1. [Q9UNN5-1]
PIRiJC7093.
T43466.
RefSeqiNP_008982.1. NM_007051.2. [Q9UNN5-1]
UniGeneiHs.530402.

Genome annotation databases

EnsembliENST00000396153; ENSP00000379457; ENSG00000185104. [Q9UNN5-1]
GeneIDi11124.
KEGGihsa:11124.
UCSCiuc001cse.2. human. [Q9UNN5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF106798 mRNA. Translation: AAD51886.1.
AF094700 mRNA. Translation: AAD51876.1. Different initiation.
AF136173 mRNA. Translation: AAP97263.1.
AJ271408 mRNA. Translation: CAB67705.1.
AF132938 mRNA. Translation: AAD27713.1.
AL359977
, AC091610, AC118557, AL049637, AL603746 Genomic DNA. Translation: CAH70189.1.
AL603746
, AC091610, AC118557, AL049637, AL359977 Genomic DNA. Translation: CAH72113.1.
CH471059 Genomic DNA. Translation: EAX06837.1.
BC004970 mRNA. Translation: AAH04970.1.
BC067100 mRNA. Translation: AAH67100.1.
AL133631 mRNA. Translation: CAB63755.1.
CCDSiCCDS554.1. [Q9UNN5-1]
PIRiJC7093.
T43466.
RefSeqiNP_008982.1. NM_007051.2. [Q9UNN5-1]
UniGeneiHs.530402.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H8CNMR-A569-650[»]
2DZMNMR-A99-191[»]
2EC4NMR-A325-495[»]
3E21X-ray1.73A5-47[»]
3QC8X-ray2.20B571-650[»]
3QCAX-ray2.90A/B/C/D571-650[»]
3QQ8X-ray2.00B568-650[»]
3QWZX-ray2.00B571-650[»]
3QX1X-ray1.60A/B571-650[»]
3R3MX-ray3.00A/B/C/D568-650[»]
ProteinModelPortaliQ9UNN5.
SMRiQ9UNN5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116298. 128 interactors.
DIPiDIP-38245N.
IntActiQ9UNN5. 50 interactors.
MINTiMINT-88745.
STRINGi9606.ENSP00000360843.

PTM databases

iPTMnetiQ9UNN5.
PhosphoSitePlusiQ9UNN5.

Polymorphism and mutation databases

BioMutaiFAF1.
DMDMi20454906.

Proteomic databases

EPDiQ9UNN5.
PaxDbiQ9UNN5.
PeptideAtlasiQ9UNN5.
PRIDEiQ9UNN5.

Protocols and materials databases

DNASUi11124.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000396153; ENSP00000379457; ENSG00000185104. [Q9UNN5-1]
GeneIDi11124.
KEGGihsa:11124.
UCSCiuc001cse.2. human. [Q9UNN5-1]

Organism-specific databases

CTDi11124.
DisGeNETi11124.
GeneCardsiFAF1.
HGNCiHGNC:3578. FAF1.
HPAiCAB072814.
HPA018253.
MIMi604460. gene.
neXtProtiNX_Q9UNN5.
OpenTargetsiENSG00000185104.
PharmGKBiPA27976.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IPG5. Eukaryota.
ENOG410Z9BT. LUCA.
GeneTreeiENSGT00530000063422.
HOGENOMiHOG000043073.
HOVERGENiHBG002876.
InParanoidiQ9UNN5.
KOiK20703.
OMAiVLSNVFC.
OrthoDBiEOG091G04LQ.
PhylomeDBiQ9UNN5.
TreeFamiTF314172.

Enzyme and pathway databases

BioCyciZFISH:G66-31779-MONOMER.
SignaLinkiQ9UNN5.
SIGNORiQ9UNN5.

Miscellaneous databases

ChiTaRSiFAF1. human.
EvolutionaryTraceiQ9UNN5.
GeneWikiiFAF1.
GenomeRNAii11124.
PROiQ9UNN5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000185104.
CleanExiHS_FAF1.
ExpressionAtlasiQ9UNN5. baseline and differential.
GenevisibleiQ9UNN5. HS.

Family and domain databases

InterProiIPR033043. FAF1.
IPR012336. Thioredoxin-like_fold.
IPR006577. UAS.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PANTHERiPTHR23322:SF29. PTHR23322:SF29. 3 hits.
PfamiPF00789. UBX. 1 hit.
[Graphical view]
SMARTiSM00594. UAS. 1 hit.
SM00166. UBX. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
SSF54236. SSF54236. 3 hits.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFAF1_HUMAN
AccessioniPrimary (citable) accession number: Q9UNN5
Secondary accession number(s): Q549F0
, Q9UF34, Q9UNT3, Q9Y2Z3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: November 30, 2016
This is version 155 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.