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BCL2L13 BCL2 like 13 [ Homo sapiens (human) ]

Gene ID: 23786, updated on 13-Mar-2020

Summary

Official Symbol
BCL2L13provided by HGNC
Official Full Name
BCL2 like 13provided by HGNC
Primary source
HGNC:HGNC:17164
See related
Ensembl:ENSG00000099968
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]
Expression
Ubiquitous expression in fat (RPKM 9.5), adrenal (RPKM 9.0) and 25 other tissues See more
Orthologs

Genomic context

See BCL2L13 in Genome Data Viewer
Location:
22q11.21
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 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 member 18 Neighboring gene uncharacterized LOC101929372 Neighboring gene ATPase H+ transporting V1 subunit E1 Neighboring gene BH3 interacting domain death agonist Neighboring gene microRNA 3198-1 Neighboring gene long intergenic non-protein coding RNA 528

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bcl-2-like protein 13
Names
BCL2-like 13 (apoptosis facilitator)

NCBI Reference Sequences (RefSeq)

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
    ENSP00000480836.1, ENST00000618481.4
    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
    ENSP00000477967.1, ENST00000611738.4
  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, F6VJB4
    Related
    ENSP00000441344.2, ENST00000538149.5
  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
    ENSP00000437667.1, ENST00000543133.5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  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
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  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
    ENSP00000410019.3, ENST00000418951.6
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  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, A8K5Y4
    Related
    ENSP00000338932.6, ENST00000337612.9
  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
  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, E9PDD6, Q86T62
    Related
    ENSP00000347133.3, ENST00000355028.4
  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
    ENSP00000480014.1, ENST00000616863.4
  11. NM_001363824.1NP_001350753.1  bcl-2-like protein 13 isoform j

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (j) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC006285
    Consensus CDS
    CCDS86995.1
    Related
    ENSP00000434764.1, ENST00000493680.5
    Conserved Domains (1) summary
    pfam00452
    Location:109200
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  12. NM_015367.4NP_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
    Consensus CDS
    CCDS13746.1
    UniProtKB/Swiss-Prot
    Q9BXK5
    Related
    ENSP00000318883.5, ENST00000317582.10
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028726.1XP_016884215.1  bcl-2-like protein 13 isoform X4

    UniProtKB/TrEMBL
    B2RB43
    Conserved Domains (1) summary
    pfam00452
    Location:5101
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  2. XM_017028728.1XP_016884217.1  bcl-2-like protein 13 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXK5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  3. XM_017028734.1XP_016884223.1  bcl-2-like protein 13 isoform X9

    UniProtKB/TrEMBL
    A0A0A0MR90
  4. XM_011546119.1XP_011544421.1  bcl-2-like protein 13 isoform X1

    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
  5. XM_017028725.1XP_016884214.1  bcl-2-like protein 13 isoform X3

    UniProtKB/TrEMBL
    A0A087WTL4
    Conserved Domains (1) summary
    PRK10811
    Location:281414
    rne; ribonuclease E; Reviewed
  6. XM_017028731.1XP_016884220.1  bcl-2-like protein 13 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXK5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  7. XM_011546121.2XP_011544423.1  bcl-2-like protein 13 isoform X2

    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
  8. XM_011546120.1XP_011544422.1  bcl-2-like protein 13 isoform X1

    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
  9. XM_017028732.1XP_016884221.1  bcl-2-like protein 13 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXK5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  10. XM_017028727.1XP_016884216.1  bcl-2-like protein 13 isoform X5

  11. XM_017028729.1XP_016884218.1  bcl-2-like protein 13 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXK5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  12. XM_011546123.1XP_011544425.1  bcl-2-like protein 13 isoform X7

    See identical proteins and their annotated locations for XP_011544425.1

    Conserved Domains (1) summary
    PRK10811
    Location:25158
    rne; ribonuclease E; Reviewed
  13. XM_017028730.1XP_016884219.1  bcl-2-like protein 13 isoform X6

    UniProtKB/Swiss-Prot
    Q9BXK5
    Conserved Domains (1) summary
    pfam00452
    Location:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

RNA

  1. XR_001755196.1 RNA Sequence

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