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Q9HB09

- B2L12_HUMAN

UniProt

Q9HB09 - B2L12_HUMAN

Protein

Bcl-2-like protein 12

Gene

BCL2L12

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. inhibition of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProt
    2. positive regulation of transcription from RNA polymerase II promoter Source: UniProt

    Keywords - Biological processi

    Apoptosis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bcl-2-like protein 12
    Short name:
    Bcl2-L-12
    Alternative name(s):
    Bcl-2-related proline-rich protein
    Gene namesi
    Name:BCL2L12
    Synonyms:BPR
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:13787. BCL2L12.

    Subcellular locationi

    GO - Cellular componenti

    1. membrane Source: UniProtKB
    2. nucleus Source: MGI

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25306.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 334334Bcl-2-like protein 12PRO_0000143072Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei113 – 1131Phosphoserine1 Publication
    Modified residuei117 – 1171Phosphothreonine1 Publication
    Modified residuei121 – 1211Phosphoserine1 Publication
    Modified residuei242 – 2421Phosphoserine3 Publications
    Modified residuei243 – 2431Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9HB09.
    PaxDbiQ9HB09.
    PRIDEiQ9HB09.

    PTM databases

    PhosphoSiteiQ9HB09.

    Expressioni

    Tissue specificityi

    Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is primarily expressed in skeletal muscle.

    Gene expression databases

    ArrayExpressiQ9HB09.
    BgeeiQ9HB09.
    CleanExiHS_BCL2L12.
    GenevestigatoriQ9HB09.

    Organism-specific databases

    HPAiHPA020856.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    HSPA1BP081072EBI-6969019,EBI-629985
    UBCP0CG483EBI-6968951,EBI-3390054

    Protein-protein interaction databases

    BioGridi123692. 4 interactions.
    IntActiQ9HB09. 3 interactions.
    STRINGi9606.ENSP00000246785.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HB09.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi311 – 32212BH2Add
    BLAST

    Sequence similaritiesi

    Belongs to the Bcl-2 family.Curated

    Phylogenomic databases

    eggNOGiNOG41154.
    HOGENOMiHOG000294149.
    HOVERGENiHBG050647.
    InParanoidiQ9HB09.
    OMAiQEEPTDF.
    OrthoDBiEOG7XM2ZJ.
    PhylomeDBiQ9HB09.
    TreeFamiTF338350.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HB09-1) [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

    MGRPAGLFPP LCPFLGFRPE ACWERHMQIE RAPSVPPFLR WAGYRPGPVR    50
    RRGKVELIKF VRVQWRRPQV EWRRRRWGPG PGASMAGSEE LGLREDTLRV 100
    LAAFLRRGEA AGSPVPTPPR SPAQEEPTDF LSRLRRCLPC SLGRGAAPSE 150
    SPRPCSLPIR PCYGLEPGPA TPDFYALVAQ RLEQLVQEQL KSPPSPELQG 200
    PPSTEKEAIL RRLVALLEEE AEVINQKLAS DPALRSKLVR LSSDSFARLV 250
    ELFCSRDDSS RPSRACPGPP PPSPEPLARL ALAMELSRRV AGLGGTLAGL 300
    SVEHVHSFTP WIQAHGGWEG ILAVSPVDLN LPLD 334
    Length:334
    Mass (Da):36,821
    Last modified:March 1, 2001 - v1
    Checksum:i5398E54C83E7CAB7
    GO
    Isoform 2 (identifier: Q9HB09-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         121-176: SPAQEEPTDF...PGPATPDFYA → PSYSRLLCFG...GPAGGGGRSH
         177-334: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:176
    Mass (Da):19,133
    Checksum:iDC503A642100CAE4
    GO
    Isoform 3 (identifier: Q9HB09-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         120-120: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:333
    Mass (Da):36,665
    Checksum:iAC8C106CC9D01518
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti270 – 2701P → S in AAH07724. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti47 – 471G → V.
    Corresponds to variant rs2060263 [ dbSNP | Ensembl ].
    VAR_048419

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei120 – 1201Missing in isoform 3. 1 PublicationVSP_043269
    Alternative sequencei121 – 17656SPAQE…PDFYA → PSYSRLLCFGGPAAGTAGPR AAEISAQPRITGSPIDREGS HTAEAGGPAGGGGRSH in isoform 2. CuratedVSP_000522Add
    BLAST
    Alternative sequencei177 – 334158Missing in isoform 2. CuratedVSP_000523Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF289220 Genomic DNA. Translation: AAG29495.1.
    AF289220 Genomic DNA. Translation: AAG29496.1.
    AC011495 Genomic DNA. No translation available.
    BC007724 mRNA. Translation: AAH07724.2.
    BC104004 mRNA. Translation: AAI04005.1.
    BC104005 mRNA. Translation: AAI04006.1.
    BC104006 mRNA. Translation: AAI04007.1.
    CCDSiCCDS12776.1. [Q9HB09-1]
    CCDS46144.1. [Q9HB09-3]
    RefSeqiNP_001035758.1. NM_001040668.1. [Q9HB09-3]
    NP_001269445.1. NM_001282516.1.
    NP_001269446.1. NM_001282517.1. [Q9HB09-2]
    NP_001269448.1. NM_001282519.1.
    NP_001269449.1. NM_001282520.1.
    NP_001269450.1. NM_001282521.1.
    NP_619580.1. NM_138639.1. [Q9HB09-1]
    UniGeneiHs.289052.

    Genome annotation databases

    GeneIDi83596.
    KEGGihsa:83596.
    UCSCiuc002ppa.3. human. [Q9HB09-1]
    uc002ppb.3. human. [Q9HB09-3]

    Polymorphism databases

    DMDMi23396468.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF289220 Genomic DNA. Translation: AAG29495.1 .
    AF289220 Genomic DNA. Translation: AAG29496.1 .
    AC011495 Genomic DNA. No translation available.
    BC007724 mRNA. Translation: AAH07724.2 .
    BC104004 mRNA. Translation: AAI04005.1 .
    BC104005 mRNA. Translation: AAI04006.1 .
    BC104006 mRNA. Translation: AAI04007.1 .
    CCDSi CCDS12776.1. [Q9HB09-1 ]
    CCDS46144.1. [Q9HB09-3 ]
    RefSeqi NP_001035758.1. NM_001040668.1. [Q9HB09-3 ]
    NP_001269445.1. NM_001282516.1.
    NP_001269446.1. NM_001282517.1. [Q9HB09-2 ]
    NP_001269448.1. NM_001282519.1.
    NP_001269449.1. NM_001282520.1.
    NP_001269450.1. NM_001282521.1.
    NP_619580.1. NM_138639.1. [Q9HB09-1 ]
    UniGenei Hs.289052.

    3D structure databases

    ProteinModelPortali Q9HB09.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123692. 4 interactions.
    IntActi Q9HB09. 3 interactions.
    STRINGi 9606.ENSP00000246785.

    PTM databases

    PhosphoSitei Q9HB09.

    Polymorphism databases

    DMDMi 23396468.

    Proteomic databases

    MaxQBi Q9HB09.
    PaxDbi Q9HB09.
    PRIDEi Q9HB09.

    Protocols and materials databases

    DNASUi 83596.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 83596.
    KEGGi hsa:83596.
    UCSCi uc002ppa.3. human. [Q9HB09-1 ]
    uc002ppb.3. human. [Q9HB09-3 ]

    Organism-specific databases

    CTDi 83596.
    GeneCardsi GC19P050168.
    HGNCi HGNC:13787. BCL2L12.
    HPAi HPA020856.
    MIMi 610837. gene.
    neXtProti NX_Q9HB09.
    PharmGKBi PA25306.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41154.
    HOGENOMi HOG000294149.
    HOVERGENi HBG050647.
    InParanoidi Q9HB09.
    OMAi QEEPTDF.
    OrthoDBi EOG7XM2ZJ.
    PhylomeDBi Q9HB09.
    TreeFami TF338350.

    Miscellaneous databases

    ChiTaRSi BCL2L12. human.
    GeneWikii BCL2L12.
    GenomeRNAii 83596.
    NextBioi 72533.
    PROi Q9HB09.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HB09.
    Bgeei Q9HB09.
    CleanExi HS_BCL2L12.
    Genevestigatori Q9HB09.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family."
      Scorilas A., Kyriakopoulou L., Yousef G.M., Ashworth L.K., Kwamie A., Diamandis E.P.
      Genomics 72:217-221(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] (ISOFORMS 1 AND 3).
      Tissue: Uterus.
    4. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-113; THR-117; SER-121 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    8. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-242 AND SER-243, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiB2L12_HUMAN
    AccessioniPrimary (citable) accession number: Q9HB09
    Secondary accession number(s): Q3SY11
    , Q3SY13, Q96I96, Q9HB08
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 102 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 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3