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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
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Genomic context

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See BST1 in Genome Data Viewer
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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