BNIP1
entrez
662
canonical
uniprot
Q12981
canonical
ensembl
ENSG00000113734
resolver
ensp
ENSP00000231668
resolver
ensp
ENSP00000239214
resolver
ensp
ENSP00000239215
resolver
ensp
ENSP00000377365
resolver
ensp
ENSP00000789419
resolver
ensp
ENSP00000793932
resolver
genesymbol
BNIP1
resolver
genesymbol_syn
NIP1
resolver
genesymbol_syn
SEC20L
resolver
hgnc
HGNC:1082
resolver
uniprot
D3DQM3
resolver
uniprot
D3DQM4
resolver
uniprot
D3DQM5
resolver
uniprot
D3DQM6
resolver
uniprot
O75622
resolver
uniprot
O75623
resolver
uniprot
O75624
resolver
uniprot
Q6K044
resolver
uniprot
Q96FG4
resolver
uniprot_entry
SEC20_HUMAN
resolver
uniprot_sec
D3DQM3
resolver
uniprot_sec
D3DQM4
resolver
uniprot_sec
D3DQM5
resolver
uniprot_sec
D3DQM6
resolver
uniprot_sec
O75622
resolver
uniprot_sec
O75623
resolver
uniprot_sec
O75624
resolver
uniprot_sec
Q6K044
resolver
uniprot_sec
Q96FG4
resolver
amino_acid_sequence
MAAPQDVHVRICNQEIVKFDLEVKALIQDIRDCSGPLSALTELNTKVKEKFQQLRHRIQDLEQLAKEQDKESEKQLLLQEVENHKKQMLSNQASWRKANLTCKIAIDNLEKAELLQGGDLLRQRKTTKESLAQTSSTITESLMGISRMMAQQVQQSEEAMQSLVTSSRTILDANEEFKSMSGTIQLGRKLITKYNRRELTDKLLIFLALALFLATVLYIVKKRLFPFL
uniprot
proteins
disease_involvement
DISEASE: Spondyloepiphyseal dysplasia, Holling type (SEDH) [MIM:621345]: An autosomal recessive spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and the appendicular skeleton, primarily due to anomalies of the epiphyses. Mild metaphyseal irregularities are also observed. {ECO:0000269|PubMed:35266227}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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, PubMed:7954800). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable). {ECO:0000269|PubMed:15272311, ECO:0000269|PubMed:23896122, ECO:0000269|PubMed:7954800, ECO:0000305|PubMed:21931693}.
uniprot
proteins
mass_dalton
26132
uniprot
proteins
mutagenesis
MUTAGEN 114; /note="L->A: Loss of proapoptotic effect. No effect on interaction with RINT1."; /evidence="ECO:0000269|PubMed:15272311
uniprot
proteins
post_translational_modification
PTM: Polyubiquitinated (PubMed:21931693, PubMed:23896122). 'Lys-63'-linked polyubiquitination by RNF185 increases the interaction with the autophagy receptor SQSTM1 (PubMed:21931693). Undergoes 'Lys-29'- and 'Lys-63'-linked polyubiquitination by RNF186 that may regulate BNIP1 localization to the mitochondrion (PubMed:23896122). {ECO:0000269|PubMed:21931693, ECO:0000269|PubMed:23896122}.
uniprot
proteins
protein_family
SEC20 family
uniprot
proteins
pubmed
10217402
uniprot
proteins
pubmed
15272311
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21931693
uniprot
proteins
pubmed
23896122
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
35266227
uniprot
proteins
pubmed
7954800
uniprot
proteins
sequence_length
228
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15272311, ECO:0000269|PubMed:23896122, ECO:0000269|PubMed:35266227}; Single-pass type IV membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:21931693, ECO:0000269|PubMed:23896122}; Single-pass type IV membrane protein {ECO:0000255}. Note=Localization to the mitochondrion is regulated by RNF186. {ECO:0000269|PubMed:23896122}.
uniprot
proteins
transmembrane_region
TRANSMEM 200..220; /note="Helical; Anchor for type IV membrane protein"; /evidence="ECO:0000255
uniprot
proteins