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

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: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
Title: A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.
The mitochondrial targeting domain (MTD) of Noxa has necrosis-inducing activity when conjugated with cell-penetrating peptide (CPP). In this study, we report another MTD-like motif, B1MLM, found in BNIP1, a pro-apoptotic BH3-only protein found in the endoplasmic reticulum membrane. The B1MLM peptide, conjugated with CPP, induced necrosis in a way similar to that of R8:MTD.
Title: MTD-like motif of a BH3-only protein, BNIP1, induces necrosis accompanied by an intracellular calcium spike.
BNip1 functions as a downstream modulator of RNF186 to direct endoplasmic reticulum stress-associated apoptotic signaling.
Title: A novel RING finger E3 ligase RNF186 regulate ER stress-mediated apoptosis through interaction with BNip1.
three members of the BNIP family, BNIP1, BNIP3 and BNIP3L, are expressed in the developing brain with distinct brain region specificity
Title: Differential expression of BNIP family members of BH3-only proteins during the development and after axotomy in the rat.
ER-specific BNIP1 plays an important role in mitochondrial dynamics by modulating the mitochondrial fission protein Drp1
Title: Endoplasmic reticulum-specific BH3-only protein BNIP1 induces mitochondrial fragmentation in a Bcl-2- and Drp1-dependent manner.
Human BNIP1 colocalizes with RNF185 at mitochondria and is polyubiquitinated by RNF185 through K63-based ubiquitin linkage in vivo.
Title: RNF185, a novel mitochondrial ubiquitin E3 ligase, regulates autophagy through interaction with BNIP1.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in mitochondrial genes and prostate cancer risk.
soluble N-ethylmaleimide-sensitive factor attachment protein may suppress apoptosis by competing with antiapoptotic proteins for the BH3 domain of BNIP1
Title: Involvement of BNIP1 in apoptosis and endoplasmic reticulum membrane fusion.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

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

SHGC-10682 (e-PCR)
- UniSTS:68631

BNIP1_1465 (e-PCR)
- UniSTS:277038

BNIP1_v495 (e-PCR)
- UniSTS:277038

D5S2469 (e-PCR)
- UniSTS:5282

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within apoptotic process	IPI Inferred from Physical Interaction more info	PubMed
involved_in apoptotic process in response to mitochondrial fragmentation	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum membrane fusion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in execution phase of apoptosis	IC Inferred by Curator more info	PubMed
involved_in negative regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info

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

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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)

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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.

mRNA and Protein(s)

NM_001205.3 → NP_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:132 → 224

SNARE_SEC20; SNARE motif of SEC20
NM_013978.3 → NP_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:44 → 124

aProt_lowcomp; TIGR02302 family protein

cd15865
Location:98 → 190

SNARE_SEC20; SNARE motif of SEC20
NM_013979.3 → NP_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:175 → 267

SNARE_SEC20; SNARE motif of SEC20
NM_013980.3 → NP_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:141 → 233

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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

173144531..173164387

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

cl22856
Location:175 → 206

SNARE; SNARE motif
XM_047417623.1 → XP_047273579.1 vesicle transport protein SEC20 isoform X3
XM_047417624.1 → XP_047273580.1 vesicle transport protein SEC20 isoform X4
XM_011534639.2 → XP_011532941.1 vesicle transport protein SEC20 isoform X2

Conserved Domains (1) summary

cl22856
Location:175 → 206

SNARE; SNARE motif