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Q16548

- B2LA1_HUMAN

UniProt

Q16548 - B2LA1_HUMAN

Protein

Bcl-2-related protein A1

Gene

BCL2A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    Functioni

    Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection By similarity.By similarity

    GO - Molecular functioni

    1. protein binding Source: HGNC
    2. protein heterodimerization activity Source: RefGenome
    3. protein homodimerization activity Source: RefGenome

    GO - Biological processi

    1. extrinsic apoptotic signaling pathway in absence of ligand Source: RefGenome
    2. intrinsic apoptotic signaling pathway in response to DNA damage Source: RefGenome
    3. negative regulation of apoptotic process Source: RefGenome
    4. negative regulation of intrinsic apoptotic signaling pathway Source: RefGenome

    Keywords - Biological processi

    Apoptosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bcl-2-related protein A1
    Alternative name(s):
    Bcl-2-like protein 5
    Short name:
    Bcl2-L-5
    Hemopoietic-specific early response protein
    Protein BFL-1
    Protein GRS
    Gene namesi
    Name:BCL2A1
    Synonyms:BCL2L5, BFL1, GRS, HBPA1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:991. BCL2A1.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial outer membrane Source: RefGenome

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25303.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 175175Bcl-2-related protein A1PRO_0000143094Add
    BLAST

    Proteomic databases

    MaxQBiQ16548.
    PaxDbiQ16548.
    PRIDEiQ16548.

    PTM databases

    PhosphoSiteiQ16548.

    Expressioni

    Tissue specificityi

    Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood, spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other tissues. Also found in vascular smooth muscle cells and hematopoietic malignancies.

    Inductioni

    By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors.

    Gene expression databases

    BgeeiQ16548.
    CleanExiHS_BCL2A1.
    GenevestigatoriQ16548.

    Interactioni

    Subunit structurei

    Interacts directly with BAK1, BID, BMF and BBC3 By similarity. Interacts directly with BCL2L11/BIM. Interacts with BAX isoform Sigma. Interacts directly with PMAIP1. Interacts with BOP/C22orf29.By similarity5 Publications

    Protein-protein interaction databases

    BioGridi107069. 13 interactions.
    IntActiQ16548. 5 interactions.
    MINTiMINT-89617.
    STRINGi9606.ENSP00000267953.

    Structurei

    Secondary structure

    175
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi1 – 2020
    Helixi32 – 5120
    Helixi53 – 564
    Helixi64 – 7916
    Helixi86 – 10621
    Helixi113 – 1153
    Helixi116 – 13621
    Helixi139 – 1424
    Helixi144 – 1485

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2VM6X-ray2.20A1-149[»]
    3I1HX-ray2.20A1-151[»]
    3MQPX-ray2.24A1-151[»]
    ProteinModelPortaliQ16548.
    SMRiQ16548. Positions 2-151.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ16548.

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi77 – 9721BH1Add
    BLAST
    Motifi132 – 14716BH2Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi24 – 3310Ala/Pro-rich

    Sequence similaritiesi

    Belongs to the Bcl-2 family.Curated

    Phylogenomic databases

    eggNOGiNOG244426.
    HOGENOMiHOG000059278.
    HOVERGENiHBG004840.
    InParanoidiQ16548.
    KOiK02162.
    OMAiYLKYVLQ.
    OrthoDBiEOG70GMGD.
    PhylomeDBiQ16548.
    TreeFamiTF315834.

    Family and domain databases

    InterProiIPR002475. Bcl2-like.
    IPR020717. Bcl2_BH1_motif_CS.
    IPR020726. Bcl2_BH2_motif_CS.
    IPR013282. Bcl2A1.
    IPR026298. Blc2_fam.
    [Graphical view]
    PANTHERiPTHR11256. PTHR11256. 1 hit.
    PTHR11256:SF10. PTHR11256:SF10. 1 hit.
    PfamiPF00452. Bcl-2. 1 hit.
    [Graphical view]
    PRINTSiPR01862. BCL2FAMILY.
    PR01867. BCL2RLATEDA1.
    PROSITEiPS50062. BCL2_FAMILY. 1 hit.
    PS01080. BH1. 1 hit.
    PS01258. BH2. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q16548-1) [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

    MTDCEFGYIY RLAQDYLQCV LQIPQPGSGP SKTSRVLQNV AFSVQKEVEK    50
    NLKSCLDNVN VVSVDTARTL FNQVMEKEFE DGIINWGRIV TIFAFEGILI 100
    KKLLRQQIAP DVDTYKEISY FVAEFIMNNT GEWIRQNGGW ENGFVKKFEP 150
    KSGWMTFLEV TGKICEMLSL LKQYC 175
    Length:175
    Mass (Da):20,132
    Last modified:November 1, 1996 - v1
    Checksum:i329D98AF2BE07A0D
    GO
    Isoform 2 (identifier: Q16548-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         141-175: ENGFVKKFEPKSGWMTFLEVTGKICEMLSLLKQYC → GKWHNHTPMLVESVAHKKRKMAL

    Show »
    Length:163
    Mass (Da):18,746
    Checksum:i200ED46EECAAF317
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti72 – 721N → T in CAA70566. (PubMed:9050999)Curated
    Sequence conflicti107 – 1071Q → H in CAA70566. (PubMed:9050999)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191C → Y.1 Publication
    Corresponds to variant rs1138357 [ dbSNP | Ensembl ].
    VAR_020342
    Natural varianti39 – 391N → K.1 Publication
    Corresponds to variant rs1138358 [ dbSNP | Ensembl ].
    VAR_020343
    Natural varianti82 – 821G → D.1 Publication
    Corresponds to variant rs3826007 [ dbSNP | Ensembl ].
    VAR_020344
    Natural varianti117 – 1171E → D.
    Corresponds to variant rs34080999 [ dbSNP | Ensembl ].
    VAR_044059

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei141 – 17535ENGFV…LKQYC → GKWHNHTPMLVESVAHKKRK MAL in isoform 2. 1 PublicationVSP_043106Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U27467 mRNA. Translation: AAC50288.1.
    U29680 mRNA. Translation: AAC50438.1.
    Y09397 mRNA. Translation: CAA70566.1.
    AY234180 mRNA. Translation: AAO89009.1.
    BT007103 mRNA. Translation: AAP35767.1.
    CR541937 mRNA. Translation: CAG46735.1.
    CR541962 mRNA. Translation: CAG46760.1.
    AC015871 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99129.1.
    BC016281 mRNA. Translation: AAH16281.1.
    CCDSiCCDS10312.1. [Q16548-1]
    CCDS45322.1. [Q16548-2]
    PIRiI39055.
    RefSeqiNP_001108207.1. NM_001114735.1. [Q16548-2]
    NP_004040.1. NM_004049.3. [Q16548-1]
    UniGeneiHs.227817.

    Genome annotation databases

    EnsembliENST00000267953; ENSP00000267953; ENSG00000140379. [Q16548-1]
    ENST00000335661; ENSP00000335250; ENSG00000140379. [Q16548-2]
    GeneIDi597.
    KEGGihsa:597.
    UCSCiuc002bfc.4. human. [Q16548-1]
    uc002bfd.4. human. [Q16548-2]

    Polymorphism databases

    DMDMi2493280.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U27467 mRNA. Translation: AAC50288.1 .
    U29680 mRNA. Translation: AAC50438.1 .
    Y09397 mRNA. Translation: CAA70566.1 .
    AY234180 mRNA. Translation: AAO89009.1 .
    BT007103 mRNA. Translation: AAP35767.1 .
    CR541937 mRNA. Translation: CAG46735.1 .
    CR541962 mRNA. Translation: CAG46760.1 .
    AC015871 Genomic DNA. No translation available.
    CH471136 Genomic DNA. Translation: EAW99129.1 .
    BC016281 mRNA. Translation: AAH16281.1 .
    CCDSi CCDS10312.1. [Q16548-1 ]
    CCDS45322.1. [Q16548-2 ]
    PIRi I39055.
    RefSeqi NP_001108207.1. NM_001114735.1. [Q16548-2 ]
    NP_004040.1. NM_004049.3. [Q16548-1 ]
    UniGenei Hs.227817.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2VM6 X-ray 2.20 A 1-149 [» ]
    3I1H X-ray 2.20 A 1-151 [» ]
    3MQP X-ray 2.24 A 1-151 [» ]
    ProteinModelPortali Q16548.
    SMRi Q16548. Positions 2-151.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107069. 13 interactions.
    IntActi Q16548. 5 interactions.
    MINTi MINT-89617.
    STRINGi 9606.ENSP00000267953.

    Chemistry

    BindingDBi Q16548.
    ChEMBLi CHEMBL6044.

    PTM databases

    PhosphoSitei Q16548.

    Polymorphism databases

    DMDMi 2493280.

    Proteomic databases

    MaxQBi Q16548.
    PaxDbi Q16548.
    PRIDEi Q16548.

    Protocols and materials databases

    DNASUi 597.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267953 ; ENSP00000267953 ; ENSG00000140379 . [Q16548-1 ]
    ENST00000335661 ; ENSP00000335250 ; ENSG00000140379 . [Q16548-2 ]
    GeneIDi 597.
    KEGGi hsa:597.
    UCSCi uc002bfc.4. human. [Q16548-1 ]
    uc002bfd.4. human. [Q16548-2 ]

    Organism-specific databases

    CTDi 597.
    GeneCardsi GC15M080256.
    HGNCi HGNC:991. BCL2A1.
    MIMi 601056. gene.
    neXtProti NX_Q16548.
    PharmGKBi PA25303.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244426.
    HOGENOMi HOG000059278.
    HOVERGENi HBG004840.
    InParanoidi Q16548.
    KOi K02162.
    OMAi YLKYVLQ.
    OrthoDBi EOG70GMGD.
    PhylomeDBi Q16548.
    TreeFami TF315834.

    Miscellaneous databases

    ChiTaRSi BCL2A1. human.
    EvolutionaryTracei Q16548.
    GeneWikii BCL2-related_protein_A1.
    GenomeRNAii 597.
    NextBioi 2429.
    PROi Q16548.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q16548.
    CleanExi HS_BCL2A1.
    Genevestigatori Q16548.

    Family and domain databases

    InterProi IPR002475. Bcl2-like.
    IPR020717. Bcl2_BH1_motif_CS.
    IPR020726. Bcl2_BH2_motif_CS.
    IPR013282. Bcl2A1.
    IPR026298. Blc2_fam.
    [Graphical view ]
    PANTHERi PTHR11256. PTHR11256. 1 hit.
    PTHR11256:SF10. PTHR11256:SF10. 1 hit.
    Pfami PF00452. Bcl-2. 1 hit.
    [Graphical view ]
    PRINTSi PR01862. BCL2FAMILY.
    PR01867. BCL2RLATEDA1.
    PROSITEi PS50062. BCL2_FAMILY. 1 hit.
    PS01080. BH1. 1 hit.
    PS01258. BH2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer and preferentially expressed in bone marrow."
      Choi S.S., Park I.-C., Yun J.W., Sung Y.C., Hong S.-I., Shin H.-S.
      Oncogene 11:1693-1698(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Liver.
    2. "Cloning of human Bcl-2 homologue: inflammatory cytokines induce human A1 in cultured endothelial cells."
      Karsan A., Yee E., Kaushansky K., Harlan J.M.
      Blood 87:3089-3096(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Umbilical vein.
    3. "GRS, a novel member of the Bcl-2 gene family, is highly expressed in multiple cancer cell lines and in normal leukocytes."
      Kenny J.J., Knobloch T.J., Augustus M., Carter K.C., Rosen C.A., Lang J.C.
      Oncogene 14:997-1001(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: T-cell.
    4. "A widely expressed pro-apoptotic splice variant of the human A1 gene is specifically targeted to the nucleus."
      Barnes F.A., Rowe S.J., Whyte M.K.B., Bingle C.D.
      Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS TYR-19; LYS-39 AND ASP-82.
    7. "Analysis of the DNA sequence and duplication history of human chromosome 15."
      Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
      , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
      Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "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: Skin.
    10. Cited for: INTERACTION WITH BAX.
    11. "Human Bop is a novel BH3-only member of the Bcl-2 protein family."
      Zhang X., Weng C., Li Y., Wang X., Jiang C., Li X., Xu Y., Chen Q., Pan L., Tang H.
      Protein Cell 3:790-801(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BOP/C22ORF29.
    12. "Completing the family portrait of the anti-apoptotic Bcl-2 proteins: crystal structure of human Bfl-1 in complex with Bim."
      Herman M.D., Nyman T., Welin M., Lehtio L., Flodin S., Tresaugues L., Kotenyova T., Flores A., Nordlund P.
      FEBS Lett. 582:3590-3594(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 1-149 IN COMPLEX WITH BCL2L11/BIM.
    13. "Human BCL-2A1 in complex with BIM."
      Structural genomics consortium (SGC)
      Submitted (FEB-2008) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 149-608 IN COMPLEX WITH BCL2L11.
    14. "Crystal structure of human bfl-1 in complex with noxa bh3 peptide."
      Northeast structural genomics consortium (NESG)
      Submitted (JUL-2010) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.24 ANGSTROMS) OF 1-151 IN COMPLEX WITH PMAIP1.

    Entry informationi

    Entry nameiB2LA1_HUMAN
    AccessioniPrimary (citable) accession number: Q16548
    Secondary accession number(s): Q6FGZ4
    , Q6FH19, Q86W13, Q99524
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 140 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3