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

Gene ID: 662, updated on 1-Jun-2020

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
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

Genomic context

See BNIP1 in Genome Data Viewer
Location:
5q35.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (173144447..173164387)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172571445..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 CREB3 regulatory factor Neighboring gene cell division cycle 42 pseudogene 5 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SNAP receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic process IPI
Inferred from Physical Interaction
more info
PubMed 
endoplasmic reticulum membrane fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
execution phase of apoptosis IC
Inferred by Curator
more info
PubMed 
negative regulation of apoptotic process TAS
Traceable Author Statement
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to oxygen-glucose deprivation IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
retrograde vesicle-mediated transport, Golgi to ER IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
COPI-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SNARE complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    Q12981
    Related
    ENSP00000239215.7, ENST00000351486.9
    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
    cd15865
    Location:98190
    SNARE_SEC20; SNARE motif of SEC20
    cl25736
    Location:44124
    DUF4175; Domain of unknown function (DUF4175)
  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: 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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    173144447..173164387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl22856
    Location:175206
    SNARE; SNARE motif
  2. XM_011534639.1XP_011532941.1  vesicle transport protein SEC20 isoform X2

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