Human Gene BCAP31 (ENST00000345046.12_14) from GENCODE V47lift37
  Description: B cell receptor associated protein 31, transcript variant 4 (from RefSeq NM_001256447.2)
Gencode Transcript: ENST00000345046.12_14
Gencode Gene: ENSG00000185825.17_18
Transcript (Including UTRs)
   Position: hg19 chrX:152,965,947-152,989,842 Size: 23,896 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chrX:152,966,392-152,988,699 Size: 22,308 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:152,965,947-152,989,842)mRNA (may differ from genome)Protein (246 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BAP31_HUMAN
DESCRIPTION: RecName: Full=B-cell receptor-associated protein 31; Short=BCR-associated protein 31; Short=Bap31; AltName: Full=6C6-AG tumor-associated antigen; AltName: Full=Protein CDM; AltName: Full=p28;
FUNCTION: May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis.
SUBUNIT: Homodimer and heterodimer with BCAP29. Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1. Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins. May interact with ACTG1 and non-muscle myosin II. Interacts with PTPLB.
INTERACTION: P10415:BCL2; NbExp=2; IntAct=EBI-77683, EBI-77694; Q14790:CASP8; NbExp=3; IntAct=EBI-77683, EBI-78060; P13569:CFTR; NbExp=3; IntAct=EBI-77683, EBI-349854; Q9BUN8:DERL1; NbExp=3; IntAct=EBI-77683, EBI-398977; Q9Y3D6:FIS1; NbExp=8; IntAct=EBI-77683, EBI-3385283; Q6Y1H2:PTPLB; NbExp=4; IntAct=EBI-77683, EBI-530257; P60468:SEC61B; NbExp=7; IntAct=EBI-77683, EBI-1788819; Q15629:TRAM1; NbExp=5; IntAct=EBI-77683, EBI-1788852;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Note=May shuttle between the ER and the intermediate compartment/cis-Golgi complex.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Cleaved by CASP8 and other caspases.
DISEASE: Note=BCAP31 is deleted in the chromosome Xq28 deletion syndrome which involves BCAP31 and the and the promoter region of ABCD1.
SIMILARITY: Belongs to the BCAP29/BCAP31 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BCAP31
Diseases sorted by gene-association score: deafness, dystonia, and cerebral hypomyelination* (1394), chromosome xq28 deletion syndrome* (419), adrenoleukodystrophy (8), cerebral creatine deficiency syndrome 1 (8), cerebral creatine deficiency syndrome (8), amyotrophic lateral sclerosis 8 (8), peroxisomal biogenesis disorders (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 107.12 RPKM in Adipose - Visceral (Omentum)
Total median expression: 3124.21 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.5098-0.321 Picture PostScript Text
3' UTR -156.30445-0.351 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008417 - Bap31

Pfam Domains:
PF05529 - Bap31/Bap29 transmembrane region
PF18035 - Bap31/Bap29 cytoplasmic coiled-coil domain

SCOP Domains:
58022 - XRCC4, C-terminal oligomerization domain
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P51572
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0042288 MHC class I protein binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0006886 intracellular protein transport
GO:0006888 ER 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:0016192 vesicle-mediated transport
GO:0032471 negative regulation of endoplasmic reticulum calcium ion concentration
GO:0035584 calcium-mediated signaling using intracellular calcium source
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0051561 positive regulation of mitochondrial calcium ion concentration
GO:0070973 protein localization to endoplasmic reticulum exit site
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

Cellular Component:
GO:0000139 Golgi membrane
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030136 clathrin-coated vesicle
GO:0032580 Golgi cisterna membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
GO:0097038 perinuclear endoplasmic reticulum
GO:0005784 Sec61 translocon complex


-  Descriptions from all associated GenBank mRNAs
  BC014323 - Homo sapiens B-cell receptor-associated protein 31, mRNA (cDNA clone MGC:22836 IMAGE:3930567), complete cds.
AK125631 - Homo sapiens cDNA FLJ43643 fis, clone STOMA2008546, highly similar to B-cell receptor-associated protein 31.
AK057613 - Homo sapiens cDNA FLJ33051 fis, clone TRACH1000063, highly similar to B-cell receptor-associated protein 31.
BC065292 - Homo sapiens B-cell receptor-associated protein 31, mRNA (cDNA clone MGC:70705 IMAGE:6061251), complete cds.
Z31696 - H.sapiens CDM mRNA.
X81817 - H.sapiens BAP31 mRNA.
AK223059 - Homo sapiens mRNA for B-cell receptor-associated protein 31 variant, clone: JTH12193.
JD222562 - Sequence 203586 from Patent EP1572962.
JD473115 - Sequence 454139 from Patent EP1572962.
JD340413 - Sequence 321437 from Patent EP1572962.
JD128485 - Sequence 109509 from Patent EP1572962.
JD262979 - Sequence 244003 from Patent EP1572962.
JD433615 - Sequence 414639 from Patent EP1572962.
JD024203 - Sequence 5227 from Patent EP1572962.
JD033718 - Sequence 14742 from Patent EP1572962.
JD406387 - Sequence 387411 from Patent EP1572962.
JD020466 - Sequence 1490 from Patent EP1572962.
JD028385 - Sequence 9409 from Patent EP1572962.
JD114871 - Sequence 95895 from Patent EP1572962.
X81109 - H.sapiens 6C6-Ag mRNA.
JD113455 - Sequence 94479 from Patent EP1572962.
JD290868 - Sequence 271892 from Patent EP1572962.
JD402787 - Sequence 383811 from Patent EP1572962.
AK222494 - Homo sapiens mRNA for B-cell receptor-associated protein 31 variant, clone: adKA03282.
JD395026 - Sequence 376050 from Patent EP1572962.
JD213628 - Sequence 194652 from Patent EP1572962.
JD401161 - Sequence 382185 from Patent EP1572962.
JD392841 - Sequence 373865 from Patent EP1572962.
JD217043 - Sequence 198067 from Patent EP1572962.
JD402447 - Sequence 383471 from Patent EP1572962.
JD225643 - Sequence 206667 from Patent EP1572962.
JD436460 - Sequence 417484 from Patent EP1572962.
CU676965 - Synthetic construct Homo sapiens gateway clone IMAGE:100023364 5' read BCAP31 mRNA.
KJ892932 - Synthetic construct Homo sapiens clone ccsbBroadEn_02326 BCAP31 gene, encodes complete protein.
KJ906024 - Synthetic construct Homo sapiens clone ccsbBroadEn_15694 BCAP31 gene, encodes complete protein.
AB590069 - Synthetic construct DNA, clone: pFN21AE0132, Homo sapiens BCAP31 gene for B-cell receptor-associated protein 31, without stop codon, in Flexi system.
AM392839 - Synthetic construct Homo sapiens clone IMAGE:100002055 for hypothetical protein (BCAP31 gene).
CU688040 - Synthetic construct Homo sapiens gateway clone IMAGE:100021582 5' read BCAP31 mRNA.
JD348604 - Sequence 329628 from Patent EP1572962.
JD498084 - Sequence 479108 from Patent EP1572962.
JD361555 - Sequence 342579 from Patent EP1572962.
JD049660 - Sequence 30684 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P51572 (Reactome details) participates in the following event(s):

R-HSA-351894 Caspase mediated cleavage of BAP31
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-75153 Apoptotic execution phase
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQ79, BAP31 , BAP31_HUMAN, BCAP31 , D3DWV5, DXS1357E, ENST00000345046.1, ENST00000345046.10, ENST00000345046.11, ENST00000345046.2, ENST00000345046.3, ENST00000345046.4, ENST00000345046.5, ENST00000345046.6, ENST00000345046.7, ENST00000345046.8, ENST00000345046.9, NM_001256447, P51572, Q13836, Q96CF0, uc317xdv.1, uc317xdv.2
UCSC ID: ENST00000345046.12_14
RefSeq Accession: NM_001256447.2
Protein: P51572 (aka BAP31_HUMAN or BA31_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.