Human Gene BNIP1 (ENST00000351486.10_4) from GENCODE V47lift37
  Description: BCL2 interacting protein 1, transcript variant BNIP1 (from RefSeq NM_001205.3)
Gencode Transcript: ENST00000351486.10_4
Gencode Gene: ENSG00000113734.18_9
Transcript (Including UTRs)
   Position: hg19 chr5:172,571,534-172,591,390 Size: 19,857 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr5:172,571,549-172,590,924 Size: 19,376 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:172,571,534-172,591,390)mRNA (may differ from genome)Protein (228 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SEC20_HUMAN
DESCRIPTION: RecName: Full=Vesicle transport protein SEC20; AltName: Full=BCL2/adenovirus E1B 19 kDa protein-interacting protein 1; AltName: Full=Transformation-related gene 8 protein; Short=TRG-8;
FUNCTION: SNARE that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER. Required for maintenance of ER network. Implicated in the suppression of cell death. May be involved in mitochondrial autophagy.
SUBUNIT: Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B. Interacts directly with STX18, RINT1/TIP20L and NAPA. Interacts with ZW10 through RINT1. Interacts with BCL2 and adenovirus E1B 19 kDa protein.
SUBCELLULAR LOCATION: Mitochondrion. Endoplasmic reticulum membrane; Single-pass type IV membrane protein.
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.
PTM: 'Lys-63'-linked polyubiquitination by RNF185 allows recruiting of autophagy receptor SQSTM1, which simultaneously binds both ubiquitin and LC3 to link ubiquitination and autophagy.
MISCELLANEOUS: Silencing of BNIP1 disrupts ER morphology.
SIMILARITY: Belongs to the SEC20 family.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/bnip1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.11 RPKM in Testis
Total median expression: 167.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -155.40466-0.333 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005606 - Sec20

Pfam Domains:
PF03908 - Sec20

SCOP Domains:
140129 - MxiH-like
47170 - Aspartate receptor, ligand-binding domain

ModBase Predicted Comparative 3D Structure on Q12981
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005484 SNAP receptor activity
GO:0005515 protein binding

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0006914 autophagy
GO:0006915 apoptotic process
GO:0007029 endoplasmic reticulum organization
GO:0016192 vesicle-mediated transport
GO:0016320 endoplasmic reticulum membrane fusion
GO:0043066 negative regulation of apoptotic process
GO:0097194 execution phase of apoptosis

Cellular Component:
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0031201 SNARE complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  KJ890776 - Synthetic construct Homo sapiens clone ccsbBroadEn_00170 BNIP1 gene, encodes complete protein.
HQ448190 - Synthetic construct Homo sapiens clone IMAGE:100071586; CCSB006291_03 BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1) gene, encodes complete protein.
BC010959 - Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1, mRNA (cDNA clone MGC:13644 IMAGE:4052817), complete cds.
U15172 - Homo sapiens BCL2/adenovirus E1B 19kD-interacting protein 1 (BNIP1) mRNA, complete cds.
AF083957 - Homo sapiens Nip1 isoform s2 mRNA, complete cds.
AF083958 - Homo sapiens Nip1 isoform s3 mRNA, complete cds.
AB527856 - Synthetic construct DNA, clone: pF1KB6379, Homo sapiens BNIP1 gene for BCL2/adenovirus E1B 19kDa interacting protein 1, without stop codon, in Flexi system.
CU679862 - Synthetic construct Homo sapiens gateway clone IMAGE:100023315 5' read BNIP1 mRNA.
AY216799 - Homo sapiens transformation-related gene 8 mRNA, complete cds.
AF083956 - Homo sapiens Nip1 isoform s1 mRNA, complete cds.
JD109581 - Sequence 90605 from Patent EP1572962.
JD341918 - Sequence 322942 from Patent EP1572962.
JD129960 - Sequence 110984 from Patent EP1572962.
JD453726 - Sequence 434750 from Patent EP1572962.
JD290680 - Sequence 271704 from Patent EP1572962.
JD534040 - Sequence 515064 from Patent EP1572962.
JD471220 - Sequence 452244 from Patent EP1572962.
JD452507 - Sequence 433531 from Patent EP1572962.
JD101347 - Sequence 82371 from Patent EP1572962.
JD540495 - Sequence 521519 from Patent EP1572962.
JD518353 - Sequence 499377 from Patent EP1572962.
JD230488 - Sequence 211512 from Patent EP1572962.
JD086619 - Sequence 67643 from Patent EP1572962.
JD527303 - Sequence 508327 from Patent EP1572962.
JD445360 - Sequence 426384 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q12981 (Reactome details) participates in the following event(s):

R-HSA-6811422 NSF ATPase activity dissociates cis-SNARE at the ER
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-6811425 NSF and SNAPs bind cis-SNARE at the ER membrane
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: D3DQM3, D3DQM4, D3DQM5, D3DQM6, ENST00000351486.1, ENST00000351486.2, ENST00000351486.3, ENST00000351486.4, ENST00000351486.5, ENST00000351486.6, ENST00000351486.7, ENST00000351486.8, ENST00000351486.9, NIP1, NM_001205, O75622, O75623, O75624, Q12981, Q6K044, Q96FG4, SEC20L, SEC20_HUMAN, TRG8, uc317ycn.1, uc317ycn.2
UCSC ID: ENST00000351486.10_4
RefSeq Accession: NM_001205.3
Protein: Q12981 (aka SEC20_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.