Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid art... See more...

Aliases for BST1 Gene

Aliases for BST1 Gene

  • Bone Marrow Stromal Cell Antigen 1 2 3 5
  • ADP-Ribosyl Cyclase 2 2 3 4
  • ADP-Ribosyl Cyclase/Cyclic ADP-Ribose Hydrolase 2 3 4
  • Bone Marrow Stromal Antigen 1 3 4
  • Cyclic ADP-Ribose Hydrolase 2 3 4
  • NAD(+) Nucleosidase 2 3
  • CADPr Hydrolase 2 3 4
  • Bone Marrow Stromal Cell Antigen 1 Variant 2 3
  • CD157 Antigen 4
  • EC 3.2.2.6 4
  • CD157 3
  • BST-1 4

External Ids for BST1 Gene

Previous GeneCards Identifiers for BST1 Gene

  • GC04P015519
  • GC04P015646
  • GC04P015392
  • GC04P015455
  • GC04P015380
  • GC04P015055

Summaries for BST1 Gene

Entrez Gene Summary for BST1 Gene

  • Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]

GeneCards Summary for BST1 Gene

BST1 (Bone Marrow Stromal Cell Antigen 1) is a Protein Coding gene. Diseases associated with BST1 include Paroxysmal Nocturnal Hemoglobinuria and Rheumatoid Arthritis. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include transferase activity and NAD+ nucleosidase activity. An important paralog of this gene is CD38.

UniProtKB/Swiss-Prot Summary for BST1 Gene

  • Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth.

Gene Wiki entry for BST1 Gene

Additional gene information for BST1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BST1 Gene

Genomics for BST1 Gene

GeneHancer (GH) Regulatory Elements for BST1 Gene

Promoters and enhancers for BST1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J015702 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.3 278 1.7 CTCF SPI1 REST POLR2A ZBTB33 BHLHE40 YY1 MAZ EZH2 BST1 ENSG00000273133 piR-35674-385 FAM200B
GH04J015701 Enhancer 0.5 ENCODE 500.7 -1.4 -1412 0.9 FOXA2 ZBTB33 JUND RXRA MAX HNF4A REST TAF1 SP1 YY1 BST1 ENSG00000273133 FAM200B lnc-BST1-2
GH04J015704 Enhancer 0.3 Ensembl 500.7 +1.9 1851 0.4 ZBTB26 BST1 FAM200B ENSG00000214846 piR-35674-385
GH04J015676 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.1 -21.9 -21850 8.4 ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G GTF2E2 PHF8 JUND FBXL5 FAM200B lnc-BST1-2 lnc-FBXL5-5 ENSG00000273133 BST1 ENSG00000214846 piR-61101-496
GH04J015651 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.2 -49.0 -48960 6 ZBTB40 NRF1 MYC POLR2G USF1 GTF2E2 PHF8 ZFX ZIC2 POLR2A FBXL5 FAM200B ENSG00000273133 ENSG00000214846 PROM1 BST1 piR-61101-496
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BST1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BST1

Genomic Locations for BST1 Gene

Genomic Locations for BST1 Gene
chr4:15,702,950-15,774,190
(GRCh38/hg38)
Size:
71,241 bases
Orientation:
Plus strand
chr4:15,704,573-15,739,936
(GRCh37/hg19)
Size:
35,364 bases
Orientation:
Plus strand

Genomic View for BST1 Gene

Genes around BST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BST1 Gene

Proteins for BST1 Gene

  • Protein details for BST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q10588-BST1_HUMAN
    Recommended name:
    ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2
    Protein Accession:
    Q10588
    Secondary Accessions:
    • B2R6A2
    • Q1XII0
    • Q5U0K0
    • Q96EN3

    Protein attributes for BST1 Gene

    Size:
    318 amino acids
    Molecular mass:
    35724 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for BST1 Gene

    Alternative splice isoforms for BST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BST1 Gene

Post-translational modifications for BST1 Gene

  • Glycosylation at Asn66, Asn95, Asn148, and Asn192
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for BST1 Gene

Domains & Families for BST1 Gene

Gene Families for BST1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for BST1 Gene

Blocks:
  • ADP-ribosyl cyclase (CD38/157)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BST1 Gene

GenScript: Design optimal peptide antigens:
  • Cyclic ADP-ribose hydrolase 2 (BST1_HUMAN)
  • Bone marrow stromal cell antigen 1 nirs variant 1 (Q1XII0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q10588

UniProtKB/Swiss-Prot:

BST1_HUMAN :
  • Belongs to the ADP-ribosyl cyclase family.
Family:
  • Belongs to the ADP-ribosyl cyclase family.
genes like me logo Genes that share domains with BST1: view

Function for BST1 Gene

Molecular function for BST1 Gene

UniProtKB/Swiss-Prot Function:
Synthesizes the second messengers cyclic ADP-ribose and nicotinate-adenine dinucleotide phosphate, the former a second messenger that elicits calcium release from intracellular stores. May be involved in pre-B-cell growth.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + NAD(+) = ADP-D-ribose + H(+) + nicotinamide; Xref=Rhea:RHEA:16301, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:57540, ChEBI:CHEBI:57967; EC=3.2.2.6;.
GENATLAS Biochemistry:
bone marrow stromal antigens,involved in pre-B-cell growth,expressed in various tissues

Enzyme Numbers (IUBMB) for BST1 Gene

Phenotypes From GWAS Catalog for BST1 Gene

Gene Ontology (GO) - Molecular Function for BST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003953 NAD+ nucleosidase activity IBA,IEA 21873635
GO:0016740 transferase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016849 phosphorus-oxygen lyase activity IBA 21873635
GO:0050135 NAD(P)+ nucleosidase activity IEA --
genes like me logo Genes that share ontologies with BST1: view
genes like me logo Genes that share phenotypes with BST1: view

Animal Models for BST1 Gene

MGI Knock Outs for BST1:
  • Bst1 Bst1<tm1Thir>

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for BST1 Gene

Localization for BST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BST1 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BST1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
cytosol 2
lysosome 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001931 uropod IDA 15328157
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane IBA,TAS --
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IDA 8202488
genes like me logo Genes that share ontologies with BST1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BST1 Gene

Pathways & Interactions for BST1 Gene

genes like me logo Genes that share pathways with BST1: view

Pathways by source for BST1 Gene

1 GeneGo (Thomson Reuters) pathway for BST1 Gene
  • NAD metabolism

Gene Ontology (GO) - Biological Process for BST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001952 regulation of cell-matrix adhesion IDA 15328157
GO:0002691 regulation of cellular extravasation TAS 23576305
GO:0006959 humoral immune response IC 8202488
GO:0007165 signal transduction TAS 23576305
GO:0008284 positive regulation of cell proliferation IDA 8202488
genes like me logo Genes that share ontologies with BST1: view

No data available for SIGNOR curated interactions for BST1 Gene

Drugs & Compounds for BST1 Gene

(10) Drugs for BST1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Approved, Investigational Pharma Target 526,526
Calcium Approved Nutra 7884
Water Approved Pharma 0
NADH Approved Nutra 0
Adenosine 5'-[γ-thio]triphosphate Experimental Pharma Target 0

(6) Additional Compounds for BST1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(E)-3-(2,3-Dihydroxyphenyl)-2-propenoic acid
  • 3-(2,3-Dihydroxyphenyl)-2-propenoic acid
  • 3-(2,3-Dihydroxyphenyl)acrylic acid
  • 3-(2,3-Dihydroxyphenyl)-2-propenoate
  • (e)-3-(2,3-Dihydroxyphenyl)-2-propenoate
  • 3-(2,3-Dihydroxyphenyl)acrylate
38481-04-8
Adenosine diphosphate ribose
  • (Rib5)ppa
  • 5-(Adenosine 5'-pyrophosphoryl)-D-ribose
  • a5'pp5RIb
  • Adenosine 5'-diphosphoribose
  • AdoPPRib
20762-30-5
cis-4-decenoic acid
  • 2'-Phosphoadenosine 5'-[3-(D-ribofuranosyl) dihydrogen diphosphate]
  • ADP-D-Ribose 2'-phosphate
  • ADPribose 2'-phosphate
26303-90-2, 57602-94-5
genes like me logo Genes that share compounds with BST1: view

Transcripts for BST1 Gene

mRNA/cDNA for BST1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BST1 Gene

No ASD Table

Relevant External Links for BST1 Gene

GeneLoc Exon Structure for
BST1

Expression for BST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BST1 Gene

This gene is overexpressed in Whole Blood (x27.4).

Protein differential expression in normal tissues from HIPED for BST1 Gene

This gene is overexpressed in Serum (23.1), Monocytes (17.1), and Neutrophil (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BST1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BST1

SOURCE GeneReport for Unigene cluster for BST1 Gene:

Hs.720344

mRNA Expression by UniProt/SwissProt for BST1 Gene:

Q10588-BST1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for BST1 Gene

  • Bone marrow(4.5)
  • Lung(4.3)
  • Nervous system(4.3)
  • Liver(4.1)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with BST1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BST1 Gene

Orthologs for BST1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BST1 31 30
  • 98.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BST1 31 30
  • 82.63 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BST1 31 30
  • 82.53 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bst1 17 31 30
  • 79.21 (n)
rat
(Rattus norvegicus)
Mammalia Bst1 30
  • 78.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BST1 31
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BST1 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves BST1 31 30
  • 64.61 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bst1 30
  • 57.98 (n)
zebrafish
(Danio rerio)
Actinopterygii CR318624.1 31
  • 34 (a)
OneToMany
Species where no ortholog for BST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BST1 Gene

ENSEMBL:
Gene Tree for BST1 (if available)
TreeFam:
Gene Tree for BST1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BST1: view image

Paralogs for BST1 Gene

Paralogs for BST1 Gene

(1) SIMAP similar genes for BST1 Gene using alignment to 6 proteins:

  • BST1_HUMAN
  • A6NC48_HUMAN
  • H0Y8G4_HUMAN
  • H0Y984_HUMAN
  • H0Y9Q9_HUMAN
  • Q1XII0_HUMAN
genes like me logo Genes that share paralogs with BST1: view

Variants for BST1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BST1 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
717839 Benign: not provided 15,707,630(+) A/G SYNONYMOUS_VARIANT
746338 Benign: not provided 15,707,565(+) C/T MISSENSE_VARIANT
753442 Likely Benign: not provided 15,715,758(+) A/G SYNONYMOUS_VARIANT
767950 Benign: not provided 15,718,917(+) G/A MISSENSE_VARIANT
769628 Benign: not provided 15,705,627(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BST1 Gene

Structural Variations from Database of Genomic Variants (DGV) for BST1 Gene

Variant ID Type Subtype PubMed ID
dgv864n67 CNV loss 20364138
esv27101 CNV loss 19812545
esv2759227 CNV gain+loss 17122850
esv3345585 CNV duplication 20981092
esv3414958 CNV duplication 20981092
esv3599741 CNV gain 21293372
nsv10459 CNV loss 18304495
nsv428439 CNV gain+loss 18775914
nsv822495 CNV loss 20364138

Variation tolerance for BST1 Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.62; 82.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BST1 Gene

Human Gene Mutation Database (HGMD)
BST1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BST1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BST1 Gene

Disorders for BST1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for BST1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paroxysmal nocturnal hemoglobinuria
  • marchiafava-micheli disease
rheumatoid arthritis
  • ra
autism spectrum disorder
  • asd
- elite association - COSMIC cancer census association via MalaCards
Search BST1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BST1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BST1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BST1 Gene

Publications for BST1 Gene

  1. Crystallographic studies on human BST-1/CD157 with ADP-ribosyl cyclase and NAD glycohydrolase activities. (PMID: 11866528) Yamamoto-Katayama S … Morikawa K (Journal of molecular biology 2002) 3 4 23 54
  2. BST-1, a surface molecule of bone marrow stromal cell lines that facilitates pre-B-cell growth. (PMID: 8202488) Kaisho T … Hirano T (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 54
  3. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 41 54
  4. Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. (PMID: 20697102) Tan EK … Liu JJ (Neurology 2010) 3 41 54
  5. Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. (PMID: 20711177) Hamza TH … Payami H (Nature genetics 2010) 3 41 54

Products for BST1 Gene

Sources for BST1 Gene