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

Summary

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

Location:: 4p15.32

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (15703065..15774173)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (15684021..15756330)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (15704688..15734410)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.
Title: Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder.
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).
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of smoking behaviours in patients with COPD. EBI GWAS Catalog EBI GWAS CatalogPubMed
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-35585 (e-PCR)
- UniSTS:65412

SHGC-50363 (e-PCR)
- UniSTS:65413

RH17388 (e-PCR)
- UniSTS:76238

RH36393 (e-PCR)
- UniSTS:19453

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NAD+ nucleosidase activity	IEA Inferred from Electronic Annotation more info
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 more info	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

EC 3.2.2.6

XP_005248242.1

EC 3.2.2.6

XP_005248243.1

EC 3.2.2.6

XP_011512180.1

EC 3.2.2.6

XP_011512181.1

EC 3.2.2.6

XP_011512183.1

EC 3.2.2.6

XP_016864054.1

EC 3.2.2.6

XP_016864055.1

EC 3.2.2.6

XP_054206728.1

EC 3.2.2.6

XP_054206729.1

EC 3.2.2.6

XP_054206730.1

EC 3.2.2.6

XP_054206731.1

EC 3.2.2.6

XP_054206732.1

EC 3.2.2.6

XP_054206733.1

EC 3.2.2.6

XP_054206734.1

EC 3.2.2.6

NCBI Reference Sequences (RefSeq)

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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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

15703065..15774173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A6NC48
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
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
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
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
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

15684021..15756330

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350759.1 → XP_054206734.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X7
XM_054350754.1 → XP_054206729.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X2

UniProtKB/TrEMBL

A6NC48
XM_054350755.1 → XP_054206730.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X3

UniProtKB/TrEMBL

A6NC48
XM_054350757.1 → XP_054206732.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X8

UniProtKB/TrEMBL

A6NC48
XM_054350756.1 → XP_054206731.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X4

UniProtKB/TrEMBL

A6NC48
XM_054350753.1 → XP_054206728.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X1

UniProtKB/TrEMBL

A6NC48
XM_054350758.1 → XP_054206733.1 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X5

UniProtKB/TrEMBL

A6NC48