• Gene id: 683

Gene Summary

• Gene Symbol: BST1   Gene   UCSC   Ensembl
• Aliases: CD157
• Gene name: bone marrow stromal cell antigen 1
• Alternate names: ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2, 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,
• Gene location: 4p15.32 (15701865: 15774177)     Exons: 15     NC_000004.12
• Gene summary(Entrez): 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 mar
• OMIM: 604732

SNPs

rs202094637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32602299G>A
NC_000021.9   g.32602299G>C
NC_000021.8   g.33974609G>A
NC_000021.8   g.33974609G>C
NG_033839.2   g.15310C>T
NG_033839.2   g.15310C>G
NM_021254.4   c.735C>T
NM_021254.4   c.735C>G
NM_021254.3   c.735C>T
NM_021254.3   c.735C>G
NM_021254.2   c.73

rs143740376

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000021.9   g.32609853G>A
NC_000021.8   g.33982163G>A
NG_033839.2   g.7756C>T
NM_021254.4   c.292C>T
NM_021254.3   c.292C>T
NM_021254.2   c.292C>T
NM_001350334.2   c.63C>T
NM_001350334.1   c.63C>T
NM_001350336.2   c.292C>T
NM_001350336.1   c.292C>T
NM_001350337.2   c.29

Protein Summary

• Protein general information: Q10588  
  • Name: ADP ribosyl cyclase/cyclic ADP ribose hydrolase 2 (EC 3.2.2.6) (ADP ribosyl cyclase 2) (Bone marrow stromal antigen 1) (BST 1) (Cyclic ADP ribose hydrolase 2) (cADPr hydrolase 2) (CD antigen CD157)
  • Length: 318  
  • Mass: 35724
  • Tissue specificity: Widely expressed.
• Sequence:

  MAAQGCAASRLLQLLLQLLLLLLLLAAGGARARWRGEGTSAHLRDIFLGRCAEYRALLSPEQRNKNCTAIWEAFK
  VALDKDPCSVLPSDYDLFINLSRHSIPRDKSLFWENSHLLVNSFADNTRRFMPLSDVLYGRVADFLSWCRQKNDS
  GLDYQSCPTSEDCENNPVDSFWKRASIQYSKDSSGVIHVMLNGSEPTGAYPIKGFFADYEIPNLQKEKITRIEIW
  VMHEIGGPNVESCGEGSMKVLEKRLKDMGFQYSCINDYRPVKLLQCVDHSTHPDCALKSAAAATQRKAPSLYTEQ
  RAGLIIPLFLVLASRTQL

• Structural information:
  • Interpro: IPR003193  
  • CDD: cd04759
  • PDB: 1ISF 1ISG 1ISH 1ISI 1ISJ 1ISM
  • PDBsum: 1ISF 1ISG 1ISH 1ISI 1ISJ 1ISM
  • STRING: ENSP00000265016
• Other Databases: GeneCards:  BST1  Malacards:  BST1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006959	humoral immune response	IC	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0061811	ADP-ribosyl cyclase activity	IDA	molecular function
GO:0061811	ADP-ribosyl cyclase activity	IDA	molecular function
GO:0061812	cyclic ADP-ribose hydrolase	IDA	molecular function
GO:0061812	cyclic ADP-ribose hydrolase	IDA	molecular function
GO:0001931	uropod	IDA	cellular component
GO:0019898	extrinsic component of membrane	IDA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0002691	regulation of cellular extravasation	TAS	biological process
GO:0050727	regulation of inflammatory response	IDA	biological process
GO:2001044	regulation of integrin-mediated signaling pathway	TAS	biological process
GO:0090022	regulation of neutrophil chemotaxis	IDA	biological process
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0001952	regulation of cell-matrix adhesion	IDA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IDA	biological process
GO:0050848	regulation of calcium-mediated signaling	TAS	biological process
GO:0050848	regulation of calcium-mediated signaling	IMP	biological process
GO:0090322	regulation of superoxide metabolic process	TAS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0016849	phosphorus-oxygen lyase activity	IBA	molecular function
GO:0030890	positive regulation of B cell proliferation	IBA	biological process
GO:0003953	NAD+ nucleosidase activity	IBA	molecular function
GO:0003953	NAD+ nucleosidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050135	NAD(P)+ nucleosidase activity	IEA	molecular function
GO:0061809	NAD+ nucleotidase, cyclic ADP-ribose generating	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0019674	NAD metabolic process	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa00760	Nicotinate and nicotinamide metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq