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Q9NZS9

- BFAR_HUMAN

UniProt

Q9NZS9 - BFAR_HUMAN

Protein

Bifunctional apoptosis regulator

Gene

BFAR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    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-typePROSITE-ProRule annotationAdd
    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

    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 2 Publications; Multi-pass membrane protein 2 Publications

    GO - Cellular componenti

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

    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 regulatorPRO_0000055822Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 140140CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini162 – 331170LumenalSequence AnalysisAdd
    BLAST
    Topological domaini353 – 3608CytoplasmicSequence Analysis
    Topological domaini382 – 40423LumenalSequence AnalysisAdd
    BLAST
    Topological domaini426 – 45025CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei141 – 16121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei332 – 35221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei361 – 38121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei405 – 42521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini182 – 24968SAMPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 RING-type zinc finger.PROSITE-ProRule annotation
    Contains 1 SAM (sterile alpha motif) domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri34 – 7441RING-typePROSITE-ProRule annotationAdd
    BLAST

    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. CuratedVSP_055879Add
    BLAST
    Alternative sequencei29 – 156128Missing in isoform 2. CuratedVSP_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. [Q9NZS9-1]
    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 . [Q9NZS9-1 ]
    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

    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: October 1, 2014
    This is version 108 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