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

Gene ID: 683, updated on 17-Jun-2019

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
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
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

Genomic context

See BST1 in Genome Data Viewer
Location:
4p15.32
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (15701866..15774178)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (15704573..15741121)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene coiled-coil and C2 domain containing 2A Neighboring gene F-box and leucine rich repeat protein 5 Neighboring gene family with sequence similarity 200 member B Neighboring gene prefoldin subunit 1 pseudogene Neighboring gene ribosomal protein L10a pseudogene 7 Neighboring gene uncharacterized LOC107986186 Neighboring gene CD38 molecule Neighboring gene hypoxanthine phosphoribosyltransferase 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI 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.
NHGRI GWA Catalog
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours in patients with COPD.
NHGRI GWA Catalog
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.
NHGRI GWA Catalog
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
NHGRI GWA Catalog

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolic pathways, organism-specific biosystem (from KEGG)
    Metabolic pathways, organism-specific biosystem
    Metabolic pathways
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • NAD+ biosynthetic pathways, organism-specific biosystem (from WikiPathways)
    NAD+ biosynthetic pathways, organism-specific biosystemNAD+ biosynthetic pathways. NAD+ levels are maintained by three independent pathways. First, the Preiss-Handler pathway uses dietary nicotinic acid and the enzyme nicotinic acid phosphoribosyltransfe...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Nicotinate and nicotinamide metabolism, organism-specific biosystem (from KEGG)
    Nicotinate and nicotinamide metabolism, organism-specific biosystem
    Nicotinate and nicotinamide metabolism
  • Nicotinate and nicotinamide metabolism, conserved biosystem (from KEGG)
    Nicotinate and nicotinamide metabolism, conserved biosystem
    Nicotinate and nicotinamide metabolism
  • Nicotinate metabolism, organism-specific biosystem (from REACTOME)
    Nicotinate metabolism, organism-specific biosystemNicotinate (niacin) and nicotinamide are precursors of the coenzymes nicotinamide-adenine dinucleotide (NAD+) and nicotinamide-adenine dinucleotide phosphate (NADP+). When NAD+ and NADP+ are intercha...
  • Pancreatic secretion, organism-specific biosystem (from KEGG)
    Pancreatic secretion, organism-specific biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Pancreatic secretion, conserved biosystem (from KEGG)
    Pancreatic secretion, conserved biosystemThe pancreas performs both exocrine and endocrine functions. The exocrine pancreas consists of two parts, the acinar and duct cells. The primary functions of pancreatic acinar cells are to synthesiz...
  • Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystem (from REACTOME)
    Post-translational modification: synthesis of GPI-anchored proteins, organism-specific biosystemGlycosylphosphatidyl inositol (GPI) acts as a membrane anchor for many cell surface proteins. GPI is synthesized in the endoplasmic reticulum. In humans, a single pathway consisting of eleven reactio...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Salivary secretion, organism-specific biosystem (from KEGG)
    Salivary secretion, organism-specific biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...
  • Salivary secretion, conserved biosystem (from KEGG)
    Salivary secretion, conserved biosystemSaliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for e...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP-ribosyl cyclase activity IDA
Inferred from Direct Assay
more info
PubMed 
NAD(P)+ nucleosidase activity IEA
Inferred from Electronic Annotation
more info
 
NAD+ nucleosidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD+ nucleotidase, cyclic ADP-ribose generating IEA
Inferred from Electronic Annotation
more info
 
cyclic ADP-ribose hydrolase IDA
Inferred from Direct Assay
more info
PubMed 
phosphorus-oxygen lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
uropod IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2
Names
ADP-ribosyl cyclase 2
NAD(+) nucleosidase
bone marrow stromal antigen 1
bone marrow stromal cell antigen 1 variant 2
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

NCBI Reference Sequences (RefSeq)

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_004334.3NP_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
    Q10588
    Related
    ENSP00000265016.4, ENST00000265016.9
    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    15701866..15774178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513881.2XP_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:4210
    Rib_hydrolayse; ADP-ribosyl cyclase
  2. XM_011513878.3XP_011512180.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X2

    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase
  3. XM_017008566.2XP_016864055.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X3

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

    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase
  5. XM_005248186.2XP_005248243.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X6

    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase
  6. XM_011513879.2XP_011512181.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X4

    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase
  7. XM_005248185.2XP_005248242.1  ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform X5

    Conserved Domains (1) summary
    pfam02267
    Location:41268
    Rib_hydrolayse; ADP-ribosyl cyclase
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