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Protein

Bifunctional apoptosis regulator

Gene

BFAR

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

Functioni

Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via mitochondrial factors.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri34 – 74RING-typePROSITE-ProRule annotationAdd BLAST41

GO - Molecular functioni

  • caspase binding Source: ParkinsonsUK-UCL
  • metal ion binding Source: UniProtKB-KW
  • protein binding, bridging Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase activity Source: ParkinsonsUK-UCL

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • negative regulation of apoptotic process Source: MGI
  • negative regulation of IRE1-mediated unfolded protein response Source: ParkinsonsUK-UCL
  • proteasome-mediated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL
  • protein autoubiquitination Source: ParkinsonsUK-UCL
  • protein K48-linked ubiquitination Source: ParkinsonsUK-UCL
  • protein K63-linked ubiquitination Source: ParkinsonsUK-UCL
  • protein polyubiquitination Source: ParkinsonsUK-UCL
  • ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCL

Keywordsi

Biological processApoptosis
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiQ9NZS9

Names & Taxonomyi

Protein namesi
Recommended name:
Bifunctional apoptosis regulator
Alternative name(s):
RING finger protein 47
Gene namesi
Name:BFAR
Synonyms:BAR, RNF47
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000103429.10
HGNCiHGNC:17613 BFAR
neXtProtiNX_Q9NZS9

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 140CytoplasmicSequence analysisAdd BLAST140
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Topological domaini162 – 331LumenalSequence analysisAdd BLAST170
Transmembranei332 – 352HelicalSequence analysisAdd BLAST21
Topological domaini353 – 360CytoplasmicSequence analysis8
Transmembranei361 – 381HelicalSequence analysisAdd BLAST21
Topological domaini382 – 404LumenalSequence analysisAdd BLAST23
Transmembranei405 – 425HelicalSequence analysisAdd BLAST21
Topological domaini426 – 450CytoplasmicSequence analysisAdd BLAST25

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi51283
OpenTargetsiENSG00000103429
PharmGKBiPA38460

Polymorphism and mutation databases

BioMutaiBFAR
DMDMi74753089

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000558221 – 450Bifunctional apoptosis regulatorAdd BLAST450

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi232N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NZS9
PaxDbiQ9NZS9
PeptideAtlasiQ9NZS9
PRIDEiQ9NZS9

PTM databases

iPTMnetiQ9NZS9
PhosphoSitePlusiQ9NZS9

Expressioni

Tissue specificityi

Expressed highly in brain, moderately in small intestine, weakly in testes and only faintly in liver and skeletal muscle. Not expressed in heart, kidney, lung and spleen.2 Publications

Gene expression databases

BgeeiENSG00000103429
CleanExiHS_BFAR
ExpressionAtlasiQ9NZS9 baseline and differential
GenevisibleiQ9NZS9 HS

Interactioni

Subunit structurei

Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31.2 Publications

GO - Molecular functioni

  • caspase binding Source: ParkinsonsUK-UCL
  • protein binding, bridging Source: ParkinsonsUK-UCL

Protein-protein interaction databases

BioGridi119435, 20 interactors
CORUMiQ9NZS9
IntActiQ9NZS9, 10 interactors
STRINGi9606.ENSP00000261658

Structurei

3D structure databases

ProteinModelPortaliQ9NZS9
SMRiQ9NZS9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini182 – 249SAMPROSITE-ProRule annotationAdd BLAST68

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri34 – 74RING-typePROSITE-ProRule annotationAdd BLAST41

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiKOG4159 Eukaryota
COG2802 LUCA
GeneTreeiENSGT00390000005386
HOGENOMiHOG000285958
HOVERGENiHBG056789
InParanoidiQ9NZS9
KOiK15684
OMAiWASLYRD
OrthoDBiEOG091G06BG
PhylomeDBiQ9NZS9
TreeFamiTF332303

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF00536 SAM_1, 1 hit
SMARTiView protein in SMART
SM00184 RING, 1 hit
SM00454 SAM, 1 hit
SUPFAMiSSF47769 SSF47769, 1 hit
PROSITEiView protein in PROSITE
PS50105 SAM_DOMAIN, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9NZS9-1) [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
MEEPQKSYVN TMDLERDEPL KSTGPQISVS EFSCHCCYDI LVNPTTLNCG
60 70 80 90 100
HSFCRHCLAL WWASSKKTEC PECREKWEGF PKVSILLRDA IEKLFPDAIR
110 120 130 140 150
LRFEDIQQNN DIVQSLAAFQ KYGNDQIPLA PNTGRANQQM GGGFFSGVLT
160 170 180 190 200
ALTGVAVVLL VYHWSSRESE HDLLVHKAVA KWTAEEVVLW LEQLGPWASL
210 220 230 240 250
YRERFLSERV NGRLLLTLTE EEFSKTPYTI ENSSHRRAIL MELERVKALG
260 270 280 290 300
VKPPQNLWEY KAVNPGRSLF LLYALKSSPR LSLLYLYLFD YTDTFLPFIH
310 320 330 340 350
TICPLQEDSS GEDIVTKLLD LKEPTWKQWR EFLVKYSFLP YQLIAEFAWD
360 370 380 390 400
WLEVHYWTSR FLIINAMLLS VLELFSFWRI WSRSELKTVP QRMWSHFWKV
410 420 430 440 450
STQGLFVAMF WPLIPQFVCN CLFYWALYFN PIINIDLVVK ELRRLETQVL
Length:450
Mass (Da):52,738
Last modified:October 1, 2000 - v1
Checksum:iA662454FC2806CE6
GO
Isoform 2 (identifier: Q9NZS9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: MEEPQKSYVNTMDLERDEPLKSTGPQIS → MVGIFKENRMSRMQRKMGRFPQSQYSPQ
     29-156: Missing.

Note: No experimental confirmation available.
Show »
Length:322
Mass (Da):38,652
Checksum:iDFB542F608342396
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052075140M → R. Corresponds to variant dbSNP:rs11546303Ensembl.1
Natural variantiVAR_052076245R → H. Corresponds to variant dbSNP:rs35377618Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0558791 – 28MEEPQ…GPQIS → MVGIFKENRMSRMQRKMGRF PQSQYSPQ in isoform 2. CuratedAdd BLAST28
Alternative sequenceiVSP_05588029 – 156Missing in isoform 2. CuratedAdd BLAST128

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF173003 mRNA Translation: AAF59975.1
AK291114 mRNA Translation: BAF83803.1
AK300778 mRNA Translation: BAG62442.1
AC009167 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85105.1
CH471112 Genomic DNA Translation: EAW85108.1
BC003054 mRNA Translation: AAH03054.1
CCDSiCCDS10554.1 [Q9NZS9-1]
RefSeqiNP_057645.1, NM_016561.2 [Q9NZS9-1]
XP_005255407.1, XM_005255350.2 [Q9NZS9-2]
UniGeneiHs.435556

Genome annotation databases

EnsembliENST00000261658; ENSP00000261658; ENSG00000103429 [Q9NZS9-1]
ENST00000619034; ENSP00000478190; ENSG00000275618 [Q9NZS9-1]
GeneIDi51283
KEGGihsa:51283
UCSCiuc002dco.4 human [Q9NZS9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBFAR_HUMAN
AccessioniPrimary (citable) accession number: Q9NZS9
Secondary accession number(s): A8K4Z9, B4DUT0, D3DUG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2000
Last modified: April 25, 2018
This is version 139 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

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