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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Metabolic proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
q28
Chromosome location (bp)
153700492 - 153724565
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a chaperone protein 1,2. Is one of the most abundant endoplasmic reticulum (ER) proteins 3,4. Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) 5,6. Also serves as a cargo receptor for the export of transmembrane proteins (By similarity). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 7. In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 8. May be involved in CASP8-mediated apoptosis 9....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, ER-Golgi transport, Host-virus interaction, Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
P51572 [Direct mapping] B-cell receptor-associated protein 31
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Metabolic proteins Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000139[Golgi membrane] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006626[protein targeting to mitochondrion] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007283[spermatogenesis] GO:0015031[protein transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016192[vesicle-mediated transport] GO:0030136[clathrin-coated vesicle] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0032580[Golgi cisterna membrane] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0034976[response to endoplasmic reticulum stress] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0042288[MHC class I protein binding] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0044233[mitochondria-associated endoplasmic reticulum membrane] GO:0044877[protein-containing complex binding] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070973[protein localization to endoplasmic reticulum exit site] GO:0097038[perinuclear endoplasmic reticulum] GO:0098553[lumenal side of endoplasmic reticulum membrane] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1904154[positive regulation of retrograde protein transport, ER to cytosol] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
P51572 [Direct mapping] B-cell receptor-associated protein 31
Show all
Metabolic proteins Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006626[protein targeting to mitochondrion] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0015031[protein transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016192[vesicle-mediated transport] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0034976[response to endoplasmic reticulum stress] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0044233[mitochondria-associated endoplasmic reticulum membrane] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070973[protein localization to endoplasmic reticulum exit site] GO:0097038[perinuclear endoplasmic reticulum] GO:0098553[lumenal side of endoplasmic reticulum membrane] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1904154[positive regulation of retrograde protein transport, ER to cytosol] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
P51572 [Direct mapping] B-cell receptor-associated protein 31
Show all
Metabolic proteins Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0006626[protein targeting to mitochondrion] GO:0006886[intracellular protein transport] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006915[apoptotic process] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0015031[protein transport] GO:0016020[membrane] GO:0016021[integral component of membrane] GO:0016192[vesicle-mediated transport] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0033116[endoplasmic reticulum-Golgi intermediate compartment membrane] GO:0034976[response to endoplasmic reticulum stress] GO:0035584[calcium-mediated signaling using intracellular calcium source] GO:0043280[positive regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0044233[mitochondria-associated endoplasmic reticulum membrane] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0070973[protein localization to endoplasmic reticulum exit site] GO:0097038[perinuclear endoplasmic reticulum] GO:0098553[lumenal side of endoplasmic reticulum membrane] GO:1903071[positive regulation of ER-associated ubiquitin-dependent protein catabolic process] GO:1904154[positive regulation of retrograde protein transport, ER to cytosol] GO:2001244[positive regulation of intrinsic apoptotic signaling pathway]
The Human Protein Atlas project is funded
