BNIP1 (BCL2 interacting protein 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 662
• Gene name: BCL2 interacting protein 1
• Gene symbol: BNIP1
• Synonyms (NCBI Gene): NIP1, SEC20, TRG-8
• Chromosome: 5
• Chromosome location: 5q35.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735792	hsa-miR-20a-5p	qRT-PCR	32864858

Gene ontology (GO) Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005484	Function	SNAP receptor activity	IDA	15272311
GO:0005484	Function	SNAP receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	7954800, 15272311, 21931693, 23896122, 32296183
GO:0005635	Component	Nuclear envelope	IDA	7954800
GO:0005737	Component	Cytoplasm	IDA	7954800
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	23896122
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15272311
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	23896122
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	15272311
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IPI	7954800
GO:0007029	Process	Endoplasmic reticulum organization	IMP	15272311
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016320	Process	Endoplasmic reticulum membrane fusion	IMP	15272311
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030137	Component	COPI-coated vesicle	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031201	Component	SNARE complex	IDA	15272311
GO:0031201	Component	SNARE complex	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	21931693, 23896122
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0042594	Process	Response to starvation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	7954800
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	7954800
GO:0048763	Function	Calcium-induced calcium release activity	IDA	29222049
GO:0090649	Process	Response to oxygen-glucose deprivation	IEA
GO:0097194	Process	Execution phase of apoptosis	IC	15272311
GO:0140208	Process	Apoptotic process in response to mitochondrial fragmentation	IDA	29222049

Other IDs

• MIM: 603291
• HGNC: 1082
• e!Ensembl: ENSG00000113734

Protein

• UniProt ID: Q12981
• Protein name: Vesicle transport protein SEC20 (BCL2/adenovirus E1B 19 kDa protein-interacting protein 1) (Transformation-related gene 8 protein) (TRG-8)
• Protein 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). Also plays a role in apoptosis (PubMed:15272311, PubMed:23896122, P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03908	Sec20	133 → 224	Sec20	Family

• Tissue specificity: 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. {ECO:0000269|PubMed:1021740
• Sequence:

  MAAPQDVHVRICNQEIVKFDLEVKALIQDIRDCSGPLSALTELNTKVKEKFQQLRHRIQD
  LEQLAKEQDKESEKQLLLQEVENHKKQMLSNQASWRKANLTCKIAIDNLEKAELLQGGDL
  LRQRKTTKESLAQTSSTITESLMGISRMMAQQVQQSEEAMQSLVTSSRTILDANEEFKSM
  SGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLYIVKKRLFPFL

• Sequence length: 228

Pathways

KEGG Pathway:

SNARE interactions in vesicular transport

Reactome Pathway:

COPI-dependent Golgi-to-ER retrograde traffic

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (12)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	39024449, 39537608	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	29531354	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	29531354	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	32121467	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	32121467, 35115687	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	40216741	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	29891935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL SUPRAVENTRICULAR TACHYCARDIA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia congenita	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, HOLLING TYPE	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (15)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29630712		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29630712	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19322654		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30840260		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	15716609	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	29630712		★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	29891935		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19237446	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19237446		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30840260	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19322654		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19383853	Associate	★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29630712		★☆☆☆☆ Found in Text Mining only
Pyloric Stenosis, Hypertrophic	Congenital hypertrophic pyloric stenosis	GWASDB_DG	22306654		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30840260	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MIDEAS 2 shared diseasesCardiac embolism, Cardioembolic stroke 2 shared evidence sourcesGWAS catalog (Cardiac embolism), GWAS catalog (Cardioembolic stroke) Related via 2 shared diseases including Cardiac embolism, Cardioembolic stroke — evidence mostly GWAS catalog. NRN1 2 shared diseasesCardiac embolism, Cardioembolic stroke 2 shared evidence sourcesGWAS catalog (Cardiac embolism), GWAS catalog (Cardioembolic stroke) Related via 2 shared diseases including Cardiac embolism, Cardioembolic stroke — evidence mostly GWAS catalog. OR4D1 2 shared diseasesCardiac embolism, Cardioembolic stroke 2 shared evidence sourcesGWAS catalog (Cardiac embolism), GWAS catalog (Cardioembolic stroke) Related via 2 shared diseases including Cardiac embolism, Cardioembolic stroke — evidence mostly GWAS catalog. OR4D2 2 shared diseasesCardiac embolism, Cardioembolic stroke 2 shared evidence sourcesGWAS catalog (Cardiac embolism), GWAS catalog (Cardioembolic stroke) Related via 2 shared diseases including Cardiac embolism, Cardioembolic stroke — evidence mostly GWAS catalog. PBXIP1 2 shared diseasesCardiac embolism, Cardioembolic stroke 2 shared evidence sourcesGWAS catalog (Cardiac embolism), GWAS catalog (Cardioembolic stroke) Related via 2 shared diseases including Cardiac embolism, Cardioembolic stroke — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MIDEAS	2	["Cardiac embolism","Cardioembolic stroke"]	0	[]	2	["GWAS catalog (Cardiac embolism)","GWAS catalog (Cardioembolic stroke)"]
NRN1	2	["Cardiac embolism","Cardioembolic stroke"]	0	[]	2	["GWAS catalog (Cardiac embolism)","GWAS catalog (Cardioembolic stroke)"]
OR4D1	2	["Cardiac embolism","Cardioembolic stroke"]	0	[]	2	["GWAS catalog (Cardiac embolism)","GWAS catalog (Cardioembolic stroke)"]
OR4D2	2	["Cardiac embolism","Cardioembolic stroke"]	0	[]	2	["GWAS catalog (Cardiac embolism)","GWAS catalog (Cardioembolic stroke)"]
PBXIP1	2	["Cardiac embolism","Cardioembolic stroke"]	0	[]	2	["GWAS catalog (Cardiac embolism)","GWAS catalog (Cardioembolic stroke)"]

Diseases Linked via Similar Genes

Dementia Linked via 2 of 5 related genesOR4D1, OR4D2 Multiple sclerosis Linked via 1 of 5 related genesMIDEAS Central nervous system cancer Linked via 1 of 5 related genesNRN1 Glioblastoma Linked via 1 of 5 related genesNRN1 Glioma Linked via 1 of 5 related genesNRN1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Dementia	2	["OR4D1","OR4D2"]
Multiple sclerosis	1	["MIDEAS"]
Central nervous system cancer	1	["NRN1"]
Glioblastoma	1	["NRN1"]
Glioma	1	["NRN1"]