• Gene id: 10134

Gene Summary

• Gene Symbol: BCAP31   Gene   UCSC   Ensembl
• Aliases: 6C6-AG, BAP31, CDM, DDCH, DXS1357E
• Gene name: B cell receptor associated protein 31
• Alternate names: B-cell receptor-associated protein 31, 6C6-AG tumor-associated antigen, BCR-associated protein Bap31, p28 Bap31,
• Gene location: Xq28 (153724745: 153700491)     Exons: 8     NC_000023.11
• Gene summary(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 endopla
• OMIM: 300398

Protein Summary

• Protein general information: P51572  
  • Name: B cell receptor associated protein 31 (BCR associated protein 31) (Bap31) (6C6 AG tumor associated antigen) (Protein CDM) (p28)
  • Length: 246  
  • Mass: 27992
  • Tissue specificity: Ubiquitous. Highly expressed in neurons and discrete endocrine cells. {ECO
• Sequence:

  MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVIDAVREIRKYDD
  VTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQATLLASNEAFKKQAESASEAAKKY
  MEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDR
  LLEEHAKLQAAVDGPMDKKEE

• Structural information:
  • Interpro: IPR008417  IPR040463  IPR041672  
  • PDB: 4JZL 4JZP
  • PDBsum: 4JZL 4JZP
  • STRING: ENSP00000392330
• Other Databases: GeneCards:  BCAP31  Malacards:  BCAP31

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:1904154	positive regulation of retrograde protein transport, ER to cytosol	IDA	biological process
GO:1903071	positive regulation of ER-associated ubiquitin-dependent protein catabolic process	IGI	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0070973	protein localization to endoplasmic reticulum exit site	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006886	intracellular protein transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0097038	perinuclear endoplasmic reticulum	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0070973	protein localization to endoplasmic reticulum exit site	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0032580	Golgi cisterna membrane	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042288	MHC class I protein binding	IEA	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:2001244	positive regulation of intrinsic apoptotic signaling pathway	IMP	biological process
GO:0035584	calcium-mediated signaling using intracellular calcium source	IMP	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05165	Human papillomavirus infection
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Deafness, dystonia, and cerebral hypomyelination	KEGG:H02287
Deafness, dystonia, and cerebral hypomyelination	KEGG:H02287
Sensorineural hearing loss	PMID:24011989
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq