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.... See more...

Aliases for BNIP1 Gene

Aliases for BNIP1 Gene

  • BCL2 Interacting Protein 1 2 3 5
  • BCL2/Adenovirus E1B 19 KDa Protein-Interacting Protein 1 3 4
  • BCL2/Adenovirus E1B 19kDa Interacting Protein 1 2 3
  • Transformation-Related Gene 8 Protein 3 4
  • Vesicle Transport Protein SEC20 3 4
  • TRG-8 3 4
  • NIP1 3 4
  • SEC20L 4
  • SEC20 3

External Ids for BNIP1 Gene

Previous GeneCards Identifiers for BNIP1 Gene

  • GC05P172829
  • GC05P173273
  • GC05P172507
  • GC05P172552
  • GC05P172504
  • GC05P167665

Summaries for BNIP1 Gene

Entrez Gene Summary for BNIP1 Gene

  • 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]

GeneCards Summary for BNIP1 Gene

BNIP1 (BCL2 Interacting Protein 1) is a Protein Coding gene. Diseases associated with BNIP1 include Prostate Carcinoma In Situ and Peroxisome Biogenesis Disorder 1B. Among its related pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include SNAP receptor activity.

UniProtKB/Swiss-Prot Summary for BNIP1 Gene

  • As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Plays also a role in apoptosis (PubMed:7954800, PubMed:15272311, PubMed:23896122). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable).

Additional gene information for BNIP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BNIP1 Gene

Genomics for BNIP1 Gene

GeneHancer (GH) Regulatory Elements for BNIP1 Gene

Promoters and enhancers for BNIP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BNIP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BNIP1

Top Transcription factor binding sites by QIAGEN in the BNIP1 gene promoter:
  • AML1a
  • FAC1
  • FOXO4
  • GR
  • GR-alpha
  • GR-beta
  • PPAR-alpha
  • Sox5
  • SRF
  • SRF (504 AA)

Genomic Locations for BNIP1 Gene

Genomic Locations for BNIP1 Gene
chr5:173,144,442-173,164,387
(GRCh38/hg38)
Size:
19,946 bases
Orientation:
Plus strand
chr5:172,571,445-172,591,390
(GRCh37/hg19)
Size:
19,946 bases
Orientation:
Plus strand

Genomic View for BNIP1 Gene

Genes around BNIP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BNIP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BNIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BNIP1 Gene

Proteins for BNIP1 Gene

  • Protein details for BNIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12981-SEC20_HUMAN
    Recommended name:
    Vesicle transport protein SEC20
    Protein Accession:
    Q12981
    Secondary Accessions:
    • D3DQM3
    • D3DQM4
    • D3DQM5
    • D3DQM6
    • O75622
    • O75623
    • O75624
    • Q6K044
    • Q96FG4

    Protein attributes for BNIP1 Gene

    Size:
    228 amino acids
    Molecular mass:
    26132 Da
    Quaternary structure:
    • Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B (PubMed:15272311). Interacts directly with STX18, RINT1/TIP20L and NAPA (PubMed:15272311). Interacts with ZW10 through RINT1 (PubMed:15272311). Interacts with BCL2 (PubMed:7954800). Interacts with RNF186 (PubMed:23896122). Interacts with RNF185 (PubMed:21931693). Interacts with SQSTM1; increased by 'Lys-63'-linked polyubiquitination of BNIP1 (PubMed:21931693).
    • (Microbial infection) Interacts with adenovirus E1B 19K protein; plays a role in the suppression of cell apoptosis by the viral protein.

    Alternative splice isoforms for BNIP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BNIP1 Gene

Post-translational modifications for BNIP1 Gene

  • Polyubiquitinated (PubMed:21931693, PubMed:23896122). 'Lys-63'-linked polyubiquitination by RNF185 increases the interaction with the autophagy receptor SQSTM1 (PubMed:21931693). Undergoes 'Lys-29'- and 'Lys-63'-linked polyubiquitination by RNF186 that may regulate BNIP1 localization to the mitochondrion (PubMed:23896122).
  • Ubiquitination at Lys178
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BNIP1
  • Boster Bio Antibodies for BNIP1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BNIP1

No data available for DME Specific Peptides for BNIP1 Gene

Domains & Families for BNIP1 Gene

Gene Families for BNIP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BNIP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BNIP1 Gene

GenScript: Design optimal peptide antigens:
  • Transformation-related gene 8 protein (SEC20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q12981

UniProtKB/Swiss-Prot:

SEC20_HUMAN :
  • Belongs to the SEC20 family.
Family:
  • Belongs to the SEC20 family.
genes like me logo Genes that share domains with BNIP1: view

Function for BNIP1 Gene

Molecular function for BNIP1 Gene

UniProtKB/Swiss-Prot Function:
As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Plays also a role in apoptosis (PubMed:7954800, PubMed:15272311, PubMed:23896122). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable).

Phenotypes From GWAS Catalog for BNIP1 Gene

Gene Ontology (GO) - Molecular Function for BNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005484 SNAP receptor activity IDA 15272311
GO:0005515 protein binding IPI 7954800
genes like me logo Genes that share ontologies with BNIP1: view
genes like me logo Genes that share phenotypes with BNIP1: view

Animal Models for BNIP1 Gene

MGI Knock Outs for BNIP1:
  • Bnip1 Bnip1<tm2b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BNIP1 Gene

Localization for BNIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BNIP1 Gene

Endoplasmic reticulum membrane; Single-pass type IV membrane protein. Mitochondrion membrane; Single-pass type IV membrane protein. Note=Localization to the mitochondrion is regulated by RNF186. {ECO:0000269 PubMed:23896122}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BNIP1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
endoplasmic reticulum 5
cytosol 3
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 7954800
GO:0005737 cytoplasm IDA 7954800
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 15272311
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with BNIP1: view

Pathways & Interactions for BNIP1 Gene

genes like me logo Genes that share pathways with BNIP1: view

Gene Ontology (GO) - Biological Process for BNIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IEA,TAS --
GO:0006915 apoptotic process IPI 7954800
GO:0007029 endoplasmic reticulum organization IMP 15272311
GO:0016192 vesicle-mediated transport IEA --
GO:0016320 endoplasmic reticulum membrane fusion IMP 15272311
genes like me logo Genes that share ontologies with BNIP1: view

No data available for SIGNOR curated interactions for BNIP1 Gene

Drugs & Compounds for BNIP1 Gene

No Compound Related Data Available

Transcripts for BNIP1 Gene

mRNA/cDNA for BNIP1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BNIP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5:

Relevant External Links for BNIP1 Gene

GeneLoc Exon Structure for
BNIP1

Expression for BNIP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BNIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BNIP1 Gene

This gene is overexpressed in Cervix (17.2), Pancreas (7.8), and Bone (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BNIP1 Gene



Protein tissue co-expression partners for BNIP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BNIP1

SOURCE GeneReport for Unigene cluster for BNIP1 Gene:

Hs.145726

mRNA Expression by UniProt/SwissProt for BNIP1 Gene:

Q12981-SEC20_HUMAN
Tissue specificity: Isoform 1 is highly expressed in heart, brain, liver skeletal muscle and pancreas. Isoform 3 is moderately expressed in placenta, lung and kidney. Isoform 4 is highly expressed in testis and small intestine.

Evidence on tissue expression from TISSUES for BNIP1 Gene

  • Liver(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with BNIP1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BNIP1 Gene

Orthologs for BNIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BNIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BNIP1 31 30
  • 99.71 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BNIP1 31 30
  • 91.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BNIP1 31 30
  • 89.62 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia BNIP1 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bnip1 30
  • 86.99 (n)
mouse
(Mus musculus)
Mammalia Bnip1 17 31 30
  • 86.55 (n)
chicken
(Gallus gallus)
Aves BNIP1 31 30
  • 75.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BNIP1 31
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bnip1 30
  • 71.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64539 30
zebrafish
(Danio rerio)
Actinopterygii bnip1a 31
  • 74 (a)
OneToMany
bnip1b 31 30
  • 71.2 (n)
OneToMany
Dr.15880 30
fruit fly
(Drosophila melanogaster)
Insecta CG2023 31 30
  • 48.88 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000242 30
  • 46.86 (n)
Species where no ortholog for BNIP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BNIP1 Gene

ENSEMBL:
Gene Tree for BNIP1 (if available)
TreeFam:
Gene Tree for BNIP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BNIP1: view image

Paralogs for BNIP1 Gene

No data available for Paralogs for BNIP1 Gene

Variants for BNIP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BNIP1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs5745100 - p.Gln14His

Additional dbSNP identifiers (rs#s) for BNIP1 Gene

Variation tolerance for BNIP1 Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BNIP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BNIP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BNIP1 Gene

Disorders for BNIP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BNIP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
prostate carcinoma in situ
  • carcinoma in situ of prostate
peroxisome biogenesis disorder 1b
  • pbd1b
- elite association - COSMIC cancer census association via MalaCards
Search BNIP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BNIP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BNIP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BNIP1 Gene

Publications for BNIP1 Gene

  1. Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion. (PMID: 15272311) Nakajima K … Tagaya M (The EMBO journal 2004) 2 3 4 54
  2. Adenovirus E1B 19 kDa and Bcl-2 proteins interact with a common set of cellular proteins. (PMID: 7954800) Boyd JM … Chinnadurai G (Cell 1994) 2 3 4 54
  3. A novel RING finger E3 ligase RNF186 regulate ER stress-mediated apoptosis through interaction with BNip1. (PMID: 23896122) Wang P … Tang J (Cellular signalling 2013) 3 4 54
  4. Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis. (PMID: 22306654) Feenstra B … Melbye M (Nature genetics 2012) 3 41 54
  5. RNF185, a novel mitochondrial ubiquitin E3 ligase, regulates autophagy through interaction with BNIP1. (PMID: 21931693) Tang F … Tang J (PloS one 2011) 3 4 54

Products for BNIP1 Gene

Sources for BNIP1 Gene