Gene Gene information from NCBI Gene database.
Entrez ID 662
Gene name BCL2 interacting protein 1
Gene symbol BNIP1
Synonyms (NCBI Gene)
NIP1SEC20TRG-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 miRNA information provided by mirtarbase database.
1
miRTarBase ID miRNA Experiments Reference
MIRT735792 hsa-miR-20a-5p qRT-PCR 32864858
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603291 1082 ENSG00000113734
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
SGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLYIVKKRL
FPFL
Sequence length 228
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  SNARE interactions in vesicular transport   COPI-dependent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spondyloepiphyseal dysplasia congenita Uncertain significance rs2113831423 RCV001638059
SPONDYLOEPIPHYSEAL DYSPLASIA, HOLLING TYPE Uncertain significance rs2113831423 RCV005642506
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 26173605
Adenocarcinoma Associate 34252349
Amyotrophic Lateral Sclerosis Associate 29630712
Down Syndrome Associate 15716609
Hypertension Associate 19237446
Lymphatic Metastasis Inhibit 30840260
Melanoma Associate 19383853
Uterine Cervical Neoplasms Associate 30840260