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    BST1 bone marrow stromal cell antigen 1 [ Homo sapiens (human) ]

    Gene ID: 683, updated on 11-Apr-2024

    Summary

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    Official Symbol
    BST1provided by HGNC
    Official Full Name
    bone marrow stromal cell antigen 1provided by HGNC
    Primary source
    HGNC:HGNC:1118
    See related
    Ensembl:ENSG00000109743 MIM:600387; AllianceGenome:HGNC:1118
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CD157; cADPR2
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 14.1), duodenum (RPKM 6.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4p15.32
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (15703065..15774173)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (15684021..15756330)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15704688..15734410)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene coiled-coil and C2 domain containing 2A Neighboring gene uncharacterized LOC124900671 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:15637196-15637392 Neighboring gene F-box and leucine rich repeat protein 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:15648787-15649012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15297 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15298 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:15656873-15657050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21340 Neighboring gene family with sequence similarity 200 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21343 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:15696758-15697354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15300 Neighboring gene ribosomal protein L10a pseudogene 7 Neighboring gene uncharacterized LOC107986186 Neighboring gene PFDN1 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21344 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:15775252-15776451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:15779736-15780378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15302 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:15793453-15794134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:15813935-15814654 Neighboring gene CD38 molecule Neighboring gene ReSE screen-validated silencer GRCh37_chr4:15854353-15854546 Neighboring gene hypoxanthine phosphoribosyltransferase 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population. Huang Y, et al. Sleep Breath, 2021 Dec. PMID 33625657
    2. Utility of FLAER and CD157 in a five-color single-tube high sensitivity assay, for diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH)-A standalone flow cytometry laboratory experience. Seth N, et al. Int J Lab Hematol, 2021 Apr. PMID 33058446
    3. Diagnosis of paroxysmal nocturnal hemoglobinuria with flowcytometry panels including CD157: Data from the real world. Zhang Y, et al. Cytometry B Clin Cytom, 2020 Mar. PMID 31571381
    4. Genome-Wide Meta-Analysis of Blood Pressure Response to β(1)-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies). Singh S, et al. J Am Heart Assoc, 2019 Aug 20. PMID 31423876, Free PMC Article
    5. BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson's disease. Shen YT, et al. CNS Neurosci Ther, 2019 Apr. PMID 30676692, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic polymorphisms of bone marrow stromal cell antigen-1 (BST-1/CD157): implications for immune/inflammatory dysfunction in neuropsychiatric disorders.
      Title: Genetic polymorphisms of bone marrow stromal cell antigen-1 (BST-1/CD157): implications for immune/inflammatory dysfunction in neuropsychiatric disorders.
    2. Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population.
      Title: Association of BST1 polymorphism with idiopathic restless legs syndrome in Chinese population.
    3. CD157 signaling promotes survival of acute myeloid leukemia cells and modulates sensitivity to cytarabine through regulation of anti-apoptotic Mcl-1.
      Title: CD157 signaling promotes survival of acute myeloid leukemia cells and modulates sensitivity to cytarabine through regulation of anti-apoptotic Mcl-1.
    4. Utility of FLAER and CD157 in a five-color single-tube high sensitivity assay, for diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH)-A standalone flow cytometry laboratory experience.
      Title: Utility of FLAER and CD157 in a five-color single-tube high sensitivity assay, for diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH)-A standalone flow cytometry laboratory experience.
    5. Diagnosis of paroxysmal nocturnal hemoglobinuria with flowcytometry panels including CD157: Data from the real world.
      Title: Diagnosis of paroxysmal nocturnal hemoglobinuria with flowcytometry panels including CD157: Data from the real world.
    6. Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.
      Title: Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.
    7. Genome-Wide Meta-Analysis of Blood Pressure Response to beta1-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies).
      Title: Genome-Wide Meta-Analysis of Blood Pressure Response to β(1)-Blockers: Results From ICAPS (International Consortium of Antihypertensive Pharmacogenomics Studies).
    8. BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson's disease.
      Title: BST1 rs4698412 allelic variant increases the risk of gait or balance deficits in patients with Parkinson's disease.
    9. The Roles of CD38 and CD157 in the Solid Tumor Microenvironment and Cancer Immunotherapy.
      Title: The Roles of CD38 and CD157 in the Solid Tumor Microenvironment and Cancer Immunotherapy.
    10. Comparative phylogenetics indicate that exon 1b is a genomic innovation acquired during primate evolution, pointing to the importance of alternative splicing for CD157 function.
      Title: Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.
    EBI GWAS Catalog
    Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
    EBI GWAS Catalog
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog
    Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog
    Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
    EBI GWAS Catalog
    Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NAD+ nucleotidase, cyclic ADP-ribose generating IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphorus-oxygen lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in humoral immune response IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in positive regulation of B cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of calcium-mediated signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of calcium-mediated signaling TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cellular extravasation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of integrin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of neutrophil chemotaxis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of superoxide metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in side of membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in uropod IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2
    Names
    ADP-ribosyl cyclase 2
    NAD(+) nucleosidase
    bone marrow stromal antigen 1
    cADPr hydrolase 2
    cyclic ADP-ribose hydrolase 2
    NP_004325.2
    XP_005248242.1
    XP_005248243.1
    XP_011512180.1
    XP_011512181.1
    XP_011512183.1
    XP_016864054.1
    XP_016864055.1
    XP_054206728.1
    XP_054206729.1
    XP_054206730.1
    XP_054206731.1
    XP_054206732.1
    XP_054206733.1
    XP_054206734.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004334.3 → NP_004325.2  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 precursor

      See identical proteins and their annotated locations for NP_004325.2

      Status: VALIDATED

      Source sequence(s)
      AC114744, BU732655, D21878, DA382561
      Consensus CDS
      CCDS3416.1
      UniProtKB/Swiss-Prot
      B2R6A2, Q10588, Q1XII0, Q5U0K0, Q96EN3
      UniProtKB/TrEMBL
      A6NC48
      Related
      ENSP00000265016.4, ENST00000265016.9
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      15703065..15774173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513878.4 → XP_011512180.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X2

      UniProtKB/TrEMBL
      A6NC48
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    2. XM_017008566.3 → XP_016864055.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X3

      UniProtKB/TrEMBL
      A6NC48

    3. XM_017008565.3 → XP_016864054.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X1

      UniProtKB/TrEMBL
      A6NC48
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    4. XM_005248186.3 → XP_005248243.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X6

      UniProtKB/TrEMBL
      A6NC48
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    5. XM_011513879.3 → XP_011512181.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X4

      UniProtKB/TrEMBL
      A6NC48
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    6. XM_011513881.3 → XP_011512183.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X7

      See identical proteins and their annotated locations for XP_011512183.1

      UniProtKB/Swiss-Prot
      Q10588
      Conserved Domains (1) summary
      pfam02267
      Location:4 → 210
      Rib_hydrolayse; ADP-ribosyl cyclase

    7. XM_005248185.3 → XP_005248242.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X5

      UniProtKB/TrEMBL
      A6NC48
      Conserved Domains (1) summary
      pfam02267
      Location:41 → 268
      Rib_hydrolayse; ADP-ribosyl cyclase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      15684021..15756330
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350759.1 → XP_054206734.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X7

    2. XM_054350754.1 → XP_054206729.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X2

    3. XM_054350755.1 → XP_054206730.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X3

    4. XM_054350757.1 → XP_054206732.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X8

    5. XM_054350756.1 → XP_054206731.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X4

    6. XM_054350753.1 → XP_054206728.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X1

    7. XM_054350758.1 → XP_054206733.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q10588.2 GenPept UniProtKB/Swiss-Prot:Q10588

    Gene LinkOut

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