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    BCL2L13 BCL2-like 13 (apoptosis facilitator) [ Homo sapiens (human) ]

    Gene ID: 23786, updated on 15-Jul-2015
    Official Symbol
    BCL2L13provided by HGNC
    Official Full Name
    BCL2-like 13 (apoptosis facilitator)provided by HGNC
    Primary source
    HGNC:HGNC:17164
    See related
    Ensembl:ENSG00000099968; HPRD:09822; Vega:OTTHUMG00000150088
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIL1; BCL-RAMBO; Bcl2-L-13
    Summary
    This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
    Orthologs
    See BCL2L13 in Epigenomics, MapViewer
    Location:
    22q11.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (17628855..17730855)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18111621..18213621)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 (glutamate carrier), member 18 Neighboring gene uncharacterized LOC101929372 Neighboring gene ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 Neighboring gene BH3 interacting domain death agonist Neighboring gene microRNA 3198-1 Neighboring gene long intergenic non-protein coding RNA 528

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Legionellosis, organism-specific biosystem (from KEGG)
      Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    • Legionellosis, conserved biosystem (from KEGG)
      Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ52784

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activator activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    apoptotic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001270726.1NP_001257655.1  bcl-2-like protein 13 isoform b

      See identical proteins and their annotated locations for NP_001257655.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
      Source sequence(s)
      AC006285, BX407004, DA799358
      Consensus CDS
      CCDS74810.1
      UniProtKB/TrEMBL
      A0A087WX97
      Related
      ENSP00000480836, ENST00000618481
      Conserved Domains (1) summary
      pfam00452
      Location:128224
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family
    2. NM_001270727.1NP_001257656.1  bcl-2-like protein 13 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      AC006285, DA478149, DA799358
      Consensus CDS
      CCDS74811.1
      UniProtKB/TrEMBL
      A0A087WTL4
      Related
      ENSP00000477967, ENST00000611738
      Conserved Domains (1) summary
      cl02575
      Location:128176
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    3. NM_001270728.1NP_001257657.1  bcl-2-like protein 13 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC006285, AK294286, DA799358
      Consensus CDS
      CCDS74814.1
      UniProtKB/TrEMBL
      B7Z238
      UniProtKB/TrEMBL
      F6VJB4
      Related
      ENSP00000441344, ENST00000538149
    4. NM_001270729.1NP_001257658.1  bcl-2-like protein 13 isoform e

      See identical proteins and their annotated locations for NP_001257658.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6, and 7 encode the same isoform (e).
      Source sequence(s)
      AC006285, AK056248, DA799358
      Consensus CDS
      CCDS59448.1
      UniProtKB/Swiss-Prot
      Q9BXK5
      Related
      ENSP00000437667, ENST00000543133
      Conserved Domains (1) summary
      cl02575
      Location:138
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    5. NM_001270730.1NP_001257659.1  bcl-2-like protein 13 isoform e

      See identical proteins and their annotated locations for NP_001257659.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC006285, DA154984, DA799358
      Consensus CDS
      CCDS59448.1
      UniProtKB/Swiss-Prot
      Q9BXK5
      Conserved Domains (1) summary
      cl02575
      Location:138
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    6. NM_001270731.1NP_001257660.1  bcl-2-like protein 13 isoform e

      See identical proteins and their annotated locations for NP_001257660.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC006285, BE900458, BI560132, DA799358
      Consensus CDS
      CCDS59448.1
      UniProtKB/Swiss-Prot
      Q9BXK5
      Related
      ENSP00000410019, ENST00000418951
      Conserved Domains (1) summary
      cl02575
      Location:138
      Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    7. NM_001270732.1NP_001257661.1  bcl-2-like protein 13 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks two alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (f) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC006285, AK291449, BC003032, DA799358
      Consensus CDS
      CCDS74812.1
      UniProtKB/TrEMBL
      A0A0A0MR90
      UniProtKB/TrEMBL
      A8K5Y4
      Related
      ENSP00000338932, ENST00000337612
    8. NM_001270733.1NP_001257662.1  bcl-2-like protein 13 isoform g

      See identical proteins and their annotated locations for NP_001257662.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks multiple exons in the 5' region but includes an alternate 5' exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (g) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AC006285, AK301394, DC341613
      UniProtKB/TrEMBL
      B7Z737
      Conserved Domains (1) summary
      PRK10811
      Location:25158
      rne; ribonuclease E; Reviewed
    9. NM_001270734.1NP_001257663.1  bcl-2-like protein 13 isoform h

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks two alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (h) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC006285, AK291449, AL831982, DA799358
      Consensus CDS
      CCDS59447.1
      UniProtKB/TrEMBL
      A8K5Y4
      UniProtKB/TrEMBL
      E9PDD6
      UniProtKB/TrEMBL
      Q86T62
      Related
      ENSP00000347133, OTTHUMP00000196200, ENST00000355028, OTTHUMT00000316188
    10. NM_001270735.1NP_001257664.1  bcl-2-like protein 13 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks three alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (i) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC006285, DA169152, DA799358
      Consensus CDS
      CCDS74813.1
      UniProtKB/TrEMBL
      A0A087WW80
      Related
      ENSP00000480014, ENST00000616863
    11. NM_015367.3NP_056182.2  bcl-2-like protein 13 isoform a

      See identical proteins and their annotated locations for NP_056182.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AC006285, DA799358
      Consensus CDS
      CCDS13746.1
      UniProtKB/Swiss-Prot
      Q9BXK5
      Conserved Domains (1) summary
      pfam00452
      Location:104200
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family

    RNA

    1. NR_073068.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs at the 5' end and has multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006285, CN420914
    2. NR_073069.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13, also known as Bcl-rambo beta) differs at the 5' end and has multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC006285, AF539453

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      17628855..17730855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011546119.1XP_011544421.1  

      See identical proteins and their annotated locations for XP_011544421.1

      UniProtKB/TrEMBL
      A0A087WX97
      Conserved Domains (1) summary
      pfam00452
      Location:128224
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family
    2. XM_011546120.1XP_011544422.1  

      See identical proteins and their annotated locations for XP_011544422.1

      UniProtKB/TrEMBL
      A0A087WX97
      Conserved Domains (1) summary
      pfam00452
      Location:128224
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family
    3. XM_011546121.1XP_011544423.1  

      See identical proteins and their annotated locations for XP_011544423.1

      UniProtKB/Swiss-Prot
      Q9BXK5
      Conserved Domains (1) summary
      pfam00452
      Location:104200
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family
    4. XM_011546122.1XP_011544424.1  

      See identical proteins and their annotated locations for XP_011544424.1

      UniProtKB/TrEMBL
      B2RB43
      Conserved Domains (1) summary
      pfam00452
      Location:5101
      Bcl-2; Apoptosis regulator proteins, Bcl-2 family
    5. XM_011546123.1XP_011544425.1  

      See identical proteins and their annotated locations for XP_011544425.1

      Conserved Domains (1) summary
      PRK10811
      Location:25158
      rne; ribonuclease E; Reviewed

    RNA

    1. XR_951195.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      18120578..18213179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)