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    BNIPL BCL2 interacting protein like [ Homo sapiens (human) ]

    Gene ID: 149428, updated on 3-Nov-2024

    Summary

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    Official Symbol
    BNIPLprovided by HGNC
    Official Full Name
    BCL2 interacting protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:16976
    See related
    Ensembl:ENSG00000163141 MIM:611275; AllianceGenome:HGNC:16976
    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
    BNIPS; PP753; BNIP-S; BNIPL1; BNIPL2; BNIPL-1; BNIPL-2; BNIP-Sbeta; BNIP-Salpha
    Summary
    The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Biased expression in skin (RPKM 64.5), esophagus (RPKM 30.1) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See BNIPL in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151036586..151047720)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150160275..150171400)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151009062..151020196)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150970021-150970520 Neighboring gene MINDY lysine 48 deubiquitinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1702 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150980776-150981318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150981319-150981859 Neighboring gene prune exopolyphosphatase 1 Neighboring gene RNA, U6 small nuclear 884, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1705 Neighboring gene chromosome 1 open reading frame 56 Neighboring gene CDC42 small effector 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1310 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:151032419-151033010 Neighboring gene MLLT11 transcription factor 7 cofactor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation.
      Title: BNIPL is a promising biomarker of laryngeal cancer: novel insights from bioinformatics analysis and experimental validation.
    2. The present study not only suggested that BNIPL2 may be a potential biomarker of CRC but also indicated that BNIPL2 regulates CRC cancer proliferation via CD44, which could be a diagnostic and clinical treatment target.
      Title: BNIPL‑2 expression is correlated with the prognosis and regulates the proliferation of colorectal cancer through CD44.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    4. BNIPL-2, a novel homologue of BNIP-2, interacts with Bcl-2 and Cdc42GAP in apoptosis.
      Title: BNIPL-2, a novel homologue of BNIP-2, interacts with Bcl-2 and Cdc42GAP in apoptosis.
    5. These results indicate the presence of two BNIP-S splicing variants as cellular regulators and that the BCH domain of BNIP-Salpha confers a novel apoptotic function. The significance of this is discussed
      Title: The BNIP-2 and Cdc42GAP homology/Sec14p-like domain of BNIP-Salpha is a novel apoptosis-inducing sequence.
    6. p16INK4, IL-12, TRAIL & lymphotoxin beta gene involved in growth suppression or cell apoptosis were up-regulated & PTEN was down-regulated by BNIPL-1;suggests that it might inhibit cell growth though cell cycle arrest &/or apoptotic cell death pathway(s)
      Title: cDNA expression array analysis of gene expression in human hepatocarcinoma Hep3B cells induced by BNIPL-1.
    7. Data suggest that Bcl-2/adenovirus E1B 19 ku interacting protein 2-like (BNIPL-2) may regulate apoptosis through changes in the expression of genes associated with cell apoptosis, growth inhibition and cell proliferation.
      Title: Differential gene expression in human hepatocellular carcinoma Hep3B cells induced by apoptosis-related gene BNIPL-2.
    8. interaction with cell proliferation-related proteins, MIF and GFER
      Title: The apoptosis-associated protein BNIPL interacts with two cell proliferation-related proteins, MIF and GFER.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    New loci associated with kidney function and chronic kidney disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of growth rate IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein
    Names
    BCL2/adenovirus E1B 19kD interacting protein like
    BNIP-2 similar

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_029720.1 RefSeqGene

      Range
      5034..16168
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159642.2 → NP_001153114.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform b

      See identical proteins and their annotated locations for NP_001153114.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate acceptor splice site at an exon in the 5' region compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (b, also known as BNIP-Salpha) with a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AF193056, AK092595, AL590133, CD687603, CU451236
      Consensus CDS
      CCDS53362.1
      UniProtKB/TrEMBL
      A2A492
      Related
      ENSP00000295294.7, ENST00000295294.11
      Conserved Domains (2) summary
      pfam12496
      Location:1 → 129
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:131 → 256
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    2. NM_138278.4 → NP_612122.2  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform a

      See identical proteins and their annotated locations for NP_612122.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK092595, AL590133, BC027868, CU451236
      Consensus CDS
      CCDS978.2
      UniProtKB/Swiss-Prot
      Q6DK43, Q7Z465, Q8TCY7, Q8WYG2
      UniProtKB/TrEMBL
      A2A492
      Related
      ENSP00000357927.3, ENST00000368931.8
      Conserved Domains (2) summary
      pfam12496
      Location:83 → 211
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:213 → 350
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      151036586..151047720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453496.2 → XP_024309264.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X3

      UniProtKB/TrEMBL
      A2A492
      Conserved Domains (2) summary
      pfam12496
      Location:1 → 129
      BNIP2; Bcl2-/adenovirus E1B nineteen kDa-interacting protein 2
      pfam13716
      Location:131 → 256
      CRAL_TRIO_2; Divergent CRAL/TRIO domain

    2. XM_047447313.1 → XP_047303269.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X1

    3. XM_047447315.1 → XP_047303271.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X2

    RNA

    1. XR_921747.2 RNA Sequence

    2. XR_921748.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      150160275..150171400
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334646.1 → XP_054190621.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X3

    2. XM_054334644.1 → XP_054190619.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X1

    3. XM_054334645.1 → XP_054190620.1  bcl-2/adenovirus E1B 19 kDa-interacting protein 2-like protein isoform X2

    RNA

    1. XR_008485934.1 RNA Sequence

    2. XR_008485935.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_138279.2: Suppressed sequence

      Description
      NM_138279.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein and the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z465.1 GenPept UniProtKB/Swiss-Prot:Q7Z465

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