Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

BCAP31

contributors: mct/npt/pgu/shn - updated : 07-06-2013

HGNC name	B-cell receptor-associated protein 31
HGNC id	16695

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DDCH deafness, dystonia, and central hypomyelination
Location	Xq28      Physical location : 152.965.946 - 152.990.201
Synonym name	likely ortholog of mouse B-cell receptor-associated protein 31
	accessory proteins BAP31/BAP29
	6C6-AG tumor-associated antigen
	BCR-associated protein Bap31
	p28 Bap31
Synonym symbol(s)	CDM, BAP31, 6C6mAB, DXS1357E, 6C6-AG

DNA

TYPE	functioning gene
STRUCTURE	24.25 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Binding site

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - DXS8061 - DXS808 - BCAP321 - DXS1073 - qter

RNA

TRANSCRIPTS	type	messenger

text	Variants 2 and 3 encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001139457 8 - 1821 NP_001132929 34.6 313 - 2008 18555783 NM_005745 8 - 1417 NP_005736 27.9 246 - 2008 18555783 NM_001139441 8 - 1346 NP_001132913 27.9 246 - 2008 18555783 NM_001256447 8 - 1647 NP_001243376 - 246 - 2008 18555783

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach       highly Endocrine adrenal gland       highly   parathyroid       highly Nervous brain         Homo sapiens Reproductive female system ovary     highly

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic Hydrophobic
STRUCTURE

motifs/domains	N terminal hydrophobic region multiple membrane-spanning domains
	three transmembrane domains
	hydrophilic extracellular non glycosylated C terminal region with a KKXX coat protein I binding motif

mono polymer

complex

HOMOLOGY

interspecies	ortholog to Bcap31, Mus musculus
	ortholog to bcap31, Danio rerio
	ortholog to Bcap31, Rattus norvegicus

Homologene

FAMILY

BCAP29/BCAP31 family

CATEGORY

chaperone/stress , antigen , protooncogene

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	integral membrane protein of the endoplasmic reticulum

basic FUNCTION	involved in the mitochondrion-endoplasmic reticulum cross talk through a Ca2+ dependent mechanism, via the generation of BAP20 by cleavage
	putative cargo receptor protein BCAP31 participates in the transport and the quality control of human class I molecules
	cargo receptor for ER export of some transmembrane proteins, especially those prone to (ER)-associated degradation (ERAD)
	operates at early steps to deliver newly synthesized CFTR DeltaF508 to its degradation pathway
	required to maintain PTPLB
	role in the export of secreted proteins from the ER, the recognition of abnormally folded proteins, and their targeting to the ER-associated-degradation (ERAD) pathway
	implicated in export of MHC class I molecules from the ER
	involved in the control of maturation or trafficking of cystic fibrosis transmembrane conductance regulator
	playing an important role in apoptosis, as a regulator of procaspase-8 processing and as a cleavage target of caspase-8
	may play a role in regulating intracellular trafficking of ITGAM in neutrophils
	essential for SV40 infection, required in a step after transport of the SV40 virus to the endoplasmic reticulum lumen, and after isomerization of disulphide bonds
	required for dislocation of SV40 from the endoplasmic reticulum to the cytosol
	the most abundant endoplasmic reticulum (ER) membrane protein
	chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death
	important role in ER-to-Golgi crosstalk
	CDIP1/BCAP31-mediated regulation of mitochondrial apoptosis pathway represents a mechanism for establishing an ER-mitochondrial crosstalk for ER-stress-mediated apoptosis signaling 1)

CELLULAR PROCESS	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

immunity/defense , cellular trafficking transport

PATHWAY

metabolism

signaling

a component	part of a large hetero-oligomeric complex at he ER membrane
	constituent of several large protein complexes
	component of the ER quality control compartment and that it moves between the peripheral ER and a juxtanuclear ER or ER-related compartment distinct from the conventional ER-Golgi intermediate compartment
	FIS1-BCAP31 complex (ARCosome) spanning the mitochondria-ER interface serves as a platform to activate the initiator procaspase-8, and thereby bridges two critical organelles for apoptosis signalling

INTERACTION

DNA

RNA

small molecule

protein	Cellubrevin
	Bcl-2/Bcl-XL and procaspase-8
	procaspase-8L
	A4 protein
	amma-actin and myosin B heavy chain
	BAP29
	bifunctional apoptosis regulator, BAR
	protein tyrosine phosphatase-like B, PTPLB
	caspase 8
	CD11b/CD18
	SEC61B and TRAM1
	DERL1
	Sec61
	HPV E5 proteins
	class I MHC molecules
	MARCH proteins
	Fission 1 homologue, Fis1
	N-terminal peptide of VP2
	BCAP31 is an interacting partner of CDIP1

cell & other

REGULATION

activated by

cleavage by CASP8, generating the proapoptotic BAP20

ASSOCIATED DISORDERS

corresponding disease(s)

DDCH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in breast cancer cells constitutional         loss of BCAP31 is potentially related to liver dysfunction and hearing loss

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS