• Gene id: 2812

Gene Summary

• Gene Symbol: GP1BB   Gene   UCSC   Ensembl
• Aliases: BDPLT1, BS, CD42C, GPIBB, GPIbbeta
• Gene name: glycoprotein Ib platelet subunit beta
• Alternate names: platelet glycoprotein Ib beta chain, GP-Ib beta, antigen CD42b-beta, glycoprotein Ib (platelet), beta polypeptide, glycoprotein Ib platelet beta subunit, nuclear localization signal deleted in velocardiofacial syndrome, platelet membrane glycoprotein Ib beta, tr,
• Gene location: 22q11.21 (19723538: 19724770)     Exons: 2     NC_000022.11
• Gene summary(Entrez): Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediat
• OMIM: 138720

Protein Summary

• Protein general information: P13224  
  • Name: Platelet glycoprotein Ib beta chain (GP Ib beta) (GPIb beta) (GPIbB) (Antigen CD42b beta) (CD antigen CD42c)
  • Length: 206  
  • Mass: 21718
  • Tissue specificity: Expressed in heart and brain. {ECO
• Sequence:

  MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTALPPGLL
  DALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAACAPGPLCWGA
  LAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES

• Structural information:
  • Protein Domains: (27..5-)
    (/note="LRRNT-)
    (89..14-)
    (/note="LRRCT"-)
  • Interpro: IPR000483  IPR032675  IPR000372  
  • PDB: 3REZ 3RFE
  • PDBsum: 3REZ 3RFE
  • STRING: ENSP00000383382
• Other Databases: GeneCards:  GP1BB  Malacards:  GP1BB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007596	blood coagulation	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	NAS	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0007596	blood coagulation	TAS	biological process
GO:0030168	platelet activation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0030168	platelet activation	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04611	Platelet activation
hsa04512	ECM-receptor interaction
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Macrothrombocytopenia	KEGG:H01740
Bernard-Soulier syndrome	KEGG:H00224
Macrothrombocytopenia	KEGG:H01740
Bernard-Soulier syndrome	KEGG:H00224
Bernard-Soulier syndrome	PMID:28131619
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq