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Q9NZS9

- BFAR_HUMAN

UniProt

Q9NZS9 - BFAR_HUMAN

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Protein
Bifunctional apoptosis regulator
Gene
BFAR, BAR, RNF47
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri34 – 7441RING-type
Add
BLAST

GO - Molecular functioni

  1. structural molecule activity Source: ProtInc
  2. zinc ion binding Source: InterPro

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. negative regulation of apoptotic process Source: MGI
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

Metal-binding, Zinc

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:17613. BFAR.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 2 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 140140Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei141 – 16121Helical; Reviewed prediction
Add
BLAST
Topological domaini162 – 331170Lumenal Reviewed prediction
Add
BLAST
Transmembranei332 – 35221Helical; Reviewed prediction
Add
BLAST
Topological domaini353 – 3608Cytoplasmic Reviewed prediction
Transmembranei361 – 38121Helical; Reviewed prediction
Add
BLAST
Topological domaini382 – 40423Lumenal Reviewed prediction
Add
BLAST
Transmembranei405 – 42521Helical; Reviewed prediction
Add
BLAST
Topological domaini426 – 45025Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: UniProtKB-SubCell
  2. integral component of plasma membrane Source: ProtInc
  3. membrane Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38460.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 450450Bifunctional apoptosis regulator
PRO_0000055822Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi232 – 2321N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9NZS9.
PaxDbiQ9NZS9.
PRIDEiQ9NZS9.

PTM databases

PhosphoSiteiQ9NZS9.

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

ArrayExpressiQ9NZS9.
BgeeiQ9NZS9.
CleanExiHS_BFAR.
GenevestigatoriQ9NZS9.

Organism-specific databases

HPAiHPA045905.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi119435. 18 interactions.
IntActiQ9NZS9. 9 interactions.
STRINGi9606.ENSP00000261658.

Structurei

3D structure databases

ProteinModelPortaliQ9NZS9.
SMRiQ9NZS9. Positions 3-94, 170-248.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini182 – 24968SAM
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

eggNOGiNOG251630.
HOGENOMiHOG000285958.
HOVERGENiHBG056789.
InParanoidiQ9NZS9.
KOiK15684.
OMAiFVCNCLF.
OrthoDBiEOG7PP56P.
PhylomeDBiQ9NZS9.
TreeFamiTF332303.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
3.30.40.10. 1 hit.
InterProiIPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamiPF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00184. RING. 1 hit.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50105. SAM_DOMAIN. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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

MEEPQKSYVN TMDLERDEPL KSTGPQISVS EFSCHCCYDI LVNPTTLNCG    50
HSFCRHCLAL WWASSKKTEC PECREKWEGF PKVSILLRDA IEKLFPDAIR 100
LRFEDIQQNN DIVQSLAAFQ KYGNDQIPLA PNTGRANQQM GGGFFSGVLT 150
ALTGVAVVLL VYHWSSRESE HDLLVHKAVA KWTAEEVVLW LEQLGPWASL 200
YRERFLSERV NGRLLLTLTE EEFSKTPYTI ENSSHRRAIL MELERVKALG 250
VKPPQNLWEY KAVNPGRSLF LLYALKSSPR LSLLYLYLFD YTDTFLPFIH 300
TICPLQEDSS GEDIVTKLLD LKEPTWKQWR EFLVKYSFLP YQLIAEFAWD 350
WLEVHYWTSR FLIINAMLLS VLELFSFWRI WSRSELKTVP QRMWSHFWKV 400
STQGLFVAMF WPLIPQFVCN CLFYWALYFN PIINIDLVVK ELRRLETQVL 450
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401M → R.
Corresponds to variant rs11546303 [ dbSNP | Ensembl ].
VAR_052075
Natural varianti245 – 2451R → H.
Corresponds to variant rs35377618 [ dbSNP | Ensembl ].
VAR_052076

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828MEEPQ…GPQIS → MVGIFKENRMSRMQRKMGRF PQSQYSPQ in isoform 2.
VSP_055879Add
BLAST
Alternative sequencei29 – 156128Missing in isoform 2.
VSP_055880Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqiNP_057645.1. NM_016561.2.
UniGeneiHs.435556.

Genome annotation databases

EnsembliENST00000261658; ENSP00000261658; ENSG00000103429.
ENST00000426842; ENSP00000400634; ENSG00000103429.
GeneIDi51283.
KEGGihsa:51283.
UCSCiuc002dco.3. human.

Polymorphism databases

DMDMi74753089.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS10554.1.
RefSeqi NP_057645.1. NM_016561.2.
UniGenei Hs.435556.

3D structure databases

ProteinModelPortali Q9NZS9.
SMRi Q9NZS9. Positions 3-94, 170-248.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119435. 18 interactions.
IntActi Q9NZS9. 9 interactions.
STRINGi 9606.ENSP00000261658.

PTM databases

PhosphoSitei Q9NZS9.

Polymorphism databases

DMDMi 74753089.

Proteomic databases

MaxQBi Q9NZS9.
PaxDbi Q9NZS9.
PRIDEi Q9NZS9.

Protocols and materials databases

DNASUi 51283.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261658 ; ENSP00000261658 ; ENSG00000103429 .
ENST00000426842 ; ENSP00000400634 ; ENSG00000103429 .
GeneIDi 51283.
KEGGi hsa:51283.
UCSCi uc002dco.3. human.

Organism-specific databases

CTDi 51283.
GeneCardsi GC16P014634.
HGNCi HGNC:17613. BFAR.
HPAi HPA045905.
neXtProti NX_Q9NZS9.
PharmGKBi PA38460.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG251630.
HOGENOMi HOG000285958.
HOVERGENi HBG056789.
InParanoidi Q9NZS9.
KOi K15684.
OMAi FVCNCLF.
OrthoDBi EOG7PP56P.
PhylomeDBi Q9NZS9.
TreeFami TF332303.

Miscellaneous databases

GenomeRNAii 51283.
NextBioi 54523.
PROi Q9NZS9.

Gene expression databases

ArrayExpressi Q9NZS9.
Bgeei Q9NZS9.
CleanExi HS_BFAR.
Genevestigatori Q9NZS9.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
3.30.40.10. 1 hit.
InterProi IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view ]
Pfami PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00184. RING. 1 hit.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS50105. SAM_DOMAIN. 1 hit.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "BAR: an apoptosis regulator at the intersection of caspases and Bcl-2 family proteins."
    Zhang H., Xu Q., Krajewski S., Krajewska M., Xie Z., Fuess S., Kitada S., Pawlowski K., Godzik A., Reed J.C.
    Proc. Natl. Acad. Sci. U.S.A. 97:2597-2602(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CASP8; BCL2 AND BCL2L1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Hepatoma.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung.
  6. "Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways."
    Roth W., Kermer P., Krajewska M., Welsh K., Davis S., Krajewski S., Reed J.C.
    Cell Death Differ. 10:1178-1187(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH IFT57; HIP1; ESRRBL1 AND BCAP31, TISSUE SPECIFICITY.

Entry informationi

Entry nameiBFAR_HUMAN
AccessioniPrimary (citable) accession number: Q9NZS9
Secondary accession number(s): A8K4Z9, B4DUT0, D3DUG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 107 of the entry and version 1 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

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
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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