BNIP1 BCL2/adenovirus E1B 19kDa interacting protein 1 [Homo sapiens] - Gene

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Summary

Official Symbol: BNIP1provided by HGNC
Official Full Name: BCL2/adenovirus E1B 19kDa interacting protein 1provided by HGNC
Primary source: HGNC:1082
Locus tag: TRG8
See related: Ensembl:ENSG00000113734; HPRD:04480; MIM:603291; Vega:OTTHUMG00000130521
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]

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Genomic context

Location :: 5q33-q34

Sequence :: Chromosome: 5; NC_000005.9 (172571445..172591390)

See BNIP1 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q12981	P10415	BCL2	HPRD	PubMed
Q12981	Q07817	BCL2L1	HPRD	PubMed
Q12981	Q12981	BNIP1	HPRD	PubMed
Q12981	P54920	NAPA	HPRD	PubMed
Q12981	Q09161	NCBP1	HPRD	PubMed
Q12981	Q9P2W9	STX18	HPRD	PubMed
BioGRID:107130	BioGRID:107068	BCL2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107130	BioGRID:107070	BCL2L1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107130	BioGRID:110766	NCBP1	BioGRID	PubMed	Two-hybrid
BioGRID:107130	BioGRID:124834	RNF185	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107130	BioGRID:114397	SQSTM1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107130	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
anti-apoptosis	TAS Traceable Author Statement more info	PubMed
apoptotic process	IPI Inferred from Physical Interaction more info	PubMed
autophagy	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane fusion	IMP Inferred from Mutant Phenotype more info	PubMed
endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
induction of apoptosis	IMP Inferred from Mutant Phenotype more info	PubMed
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
SNARE complex	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to endoplasmic reticulum membrane	TAS Traceable Author Statement more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
mitochondrion	IEA Inferred from Electronic Annotation more info
nuclear envelope	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: vesicle transport protein SEC20

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

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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)

NM_001205.2 → NP_001196.2 vesicle transport protein SEC20 isoform BNIP1

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)

AU311051, BC010959, BP384034

Consensus CDS

CCDS4384.1

UniProtKB/Swiss-Prot

Q12981

Related

ENSP00000239215, OTTHUMP00000161077, ENST00000351486, OTTHUMT00000252939

Conserved Domains (1) summary

pfam03908
Location:133 – 224
Blast Score: 237

Sec20; Sec20
NM_013978.2 → NP_053581.2 vesicle transport protein SEC20 isoform BNIP1-a

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, OTTHUMP00000161079, ENST00000393770, OTTHUMT00000252941

Conserved Domains (1) summary

pfam03908
Location:99 – 190
Blast Score: 233

Sec20; Sec20
NM_013979.2 → NP_053582.2 vesicle transport protein SEC20 isoform BNIP1-b

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, OTTHUMP00000161078, ENST00000231668, OTTHUMT00000252940

Conserved Domains (1) summary

pfam03908
Location:176 – 267
Blast Score: 241

Sec20; Sec20
NM_013980.2 → NP_053583.2 vesicle transport protein SEC20 isoform BNIP1-c

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, OTTHUMP00000223580, ENST00000352523, OTTHUMT00000372665

Conserved Domains (1) summary

pfam03908
Location:142 – 233
Blast Score: 239

Sec20; Sec20

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

172571445..172591390

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

167665924..167685855

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008378.6 (31852..51656)	None
genomic	AY246554.1	AAO61090.1
genomic	CH471062.2	EAW61405.1
		EAW61406.1
		EAW61407.1
		EAW61408.1
		EAW61409.1
		EAW61410.1
		EAW61411.1
		EAW61412.1
		EAW61413.1
mRNA	AF083956.1	AAC33124.1
mRNA	AF083957.1	AAC33125.1
mRNA	AF083958.1	AAC33126.1
mRNA	AU311051.1	None
mRNA	AY216799.1	AAO91805.1
mRNA	BC010959.1	AAH10959.1
mRNA	BP384034.1	None
mRNA	U15172.1	AAC00020.1
other-genetic	HQ448190.1	ADQ32671.1