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    BNIP1 BCL2 interacting protein 1 [ Homo sapiens (human) ]

    Gene ID: 662, updated on 17-Jun-2024

    Summary

    Official Symbol
    BNIP1provided by HGNC
    Official Full Name
    BCL2 interacting protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1082
    See related
    Ensembl:ENSG00000113734 MIM:603291; AllianceGenome:HGNC:1082
    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
    NIP1; SEC20; TRG-8
    Summary
    This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.6), testis (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See BNIP1 in Genome Data Viewer
    Location:
    5q35.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (173144531..173164387)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (173684638..173704487)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172571534..172591390)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit e1 Neighboring gene small nucleolar RNA, H/ACA box 74B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16634 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16635 Neighboring gene CREB3 regulatory factor Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172508379-172508618 Neighboring gene CDC42 pseudogene 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172555784-172556284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:172571727-172572255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16636 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:172633891-172634070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:172656189-172656855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172659129-172660008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:172660009-172660888 Neighboring gene ribosomal protein L7a pseudogene 33 Neighboring gene NK2 homeobox 5

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNAP receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium-induced calcium release activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SNARE complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of SNARE complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in mitochondrial outer membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    vesicle transport protein SEC20
    Names
    BCL2/adenovirus E1B 19 kDa protein-interacting protein 1
    BCL2/adenovirus E1B 19kDa interacting protein 1
    transformation-related gene 8 protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001205.3NP_001196.2  vesicle transport protein SEC20 isoform BNIP1

      See identical proteins and their annotated locations for NP_001196.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant BNIP1 contains the entire coding region of the gene. This variant contains a fully conserved BH3 domain, which has been associated with pro-apoptotic function.
      Source sequence(s)
      BC010959, BP384034
      Consensus CDS
      CCDS4384.1
      UniProtKB/Swiss-Prot
      D3DQM3, D3DQM4, D3DQM5, D3DQM6, O75622, O75623, O75624, Q12981, Q6K044, Q96FG4
      Related
      ENSP00000239215.7, ENST00000351486.10
      Conserved Domains (1) summary
      cd15865
      Location:132224
      SNARE_SEC20; SNARE motif of SEC20
    2. NM_013978.3NP_053581.2  vesicle transport protein SEC20 isoform BNIP1-a

      See identical proteins and their annotated locations for NP_053581.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant BNIP1-a contains a 102-nucleotide in-frame deletion as compared to the full-length BNIP1 variant. This variant lacks the BH3 domain which is associated with pro-apoptotic function, and therefore, may function similarly to anti-apoptotic members of the BCL2 family.
      Source sequence(s)
      AF083956, AU311051, BC010959, BP384034
      Consensus CDS
      CCDS43400.1
      UniProtKB/Swiss-Prot
      Q12981
      Related
      ENSP00000377365.4, ENST00000393770.4
      Conserved Domains (2) summary
      TIGR02302
      Location:44124
      aProt_lowcomp; TIGR02302 family protein
      cd15865
      Location:98190
      SNARE_SEC20; SNARE motif of SEC20
    3. NM_013979.3NP_053582.2  vesicle transport protein SEC20 isoform BNIP1-b

      See identical proteins and their annotated locations for NP_053582.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant BNIP1-b contains a 129-nucleotide in-frame insertion relative to the full-length BNIP1 variant. This variant contains a fully conserved BH3 domain which has been associated with pro-apoptotic function.
      Source sequence(s)
      AF083957, AU311051, BC010959, BP384034
      Consensus CDS
      CCDS4385.1
      UniProtKB/Swiss-Prot
      Q12981
      Related
      ENSP00000231668.9, ENST00000231668.13
      Conserved Domains (1) summary
      cd15865
      Location:175267
      SNARE_SEC20; SNARE motif of SEC20
    4. NM_013980.3NP_053583.2  vesicle transport protein SEC20 isoform BNIP1-c

      See identical proteins and their annotated locations for NP_053583.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript variant BNIP1-c contains the same 129-nucleotide insertion as BNIP1-b, but also the same 102-nucleotide deletion as BNIP1-a. This variant lacks a BH3 domain which is associated with pro-apoptotic function, and therefore, may function similarly to anti-apoptotic members of the BCL2 family.
      Source sequence(s)
      AF083958, AU311051, BC010959, BP384034
      Consensus CDS
      CCDS4386.1
      UniProtKB/Swiss-Prot
      Q12981
      Related
      ENSP00000239214.8, ENST00000352523.10
      Conserved Domains (1) summary
      cd15865
      Location:141233
      SNARE_SEC20; SNARE motif of SEC20

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      173144531..173164387
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534638.2XP_011532940.1  vesicle transport protein SEC20 isoform X1

      Conserved Domains (1) summary
      cl22856
      Location:175206
      SNARE; SNARE motif
    2. XM_047417623.1XP_047273579.1  vesicle transport protein SEC20 isoform X3

    3. XM_047417624.1XP_047273580.1  vesicle transport protein SEC20 isoform X4

    4. XM_011534639.2XP_011532941.1  vesicle transport protein SEC20 isoform X2

      Conserved Domains (1) summary
      cl22856
      Location:175206
      SNARE; SNARE motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      173684638..173704487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353302.1XP_054209277.1  vesicle transport protein SEC20 isoform X1

    2. XM_054353304.1XP_054209279.1  vesicle transport protein SEC20 isoform X3

    3. XM_054353305.1XP_054209280.1  vesicle transport protein SEC20 isoform X4

    4. XM_054353303.1XP_054209278.1  vesicle transport protein SEC20 isoform X2