• Gene id: 11055

Gene Summary

• Gene Symbol: ZPBP   Gene   UCSC   Ensembl
• Aliases: ZPBP1
• Gene name: zona pellucida binding protein
• Alternate names: zona pellucida-binding protein 1, inner acrosomal membrane IAM38,
• Gene location: 7p12.2 (50093263: 49846354)     Exons: 13     NC_000007.14
• Gene summary(Entrez): ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]
• OMIM: 608498

SNPs

rs76027725

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

NC_000007.14   g.50058101A>G
NC_000007.13   g.50097697A>G
NM_007009.3   c.375T>C
NM_007009.2   c.375T>C
XM_011515102.2   c.153T>C
XM_011515095.2   c.375T>C
XM_011515096.2   c.372T>C
XM_011515100.2   c.249T>C
XM_024446646.1   c.150T>C
XR_001744543.1   n.439T>C
XM_0115150  

rs61696422

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

NC_000007.14   g.50093121C>G
NC_000007.14   g.50093121C>T
NC_000007.13   g.50132717C>G
NC_000007.13   g.50132717C>T
NM_007009.3   c.74G>C
NM_007009.3   c.74G>A
NM_007009.2   c.74G>C
NM_007009.2   c.74G>A
XM_011515101.3   c.74G>C
XM_011515101.3   c.74G>A
XM_011515102.2   c

Protein Summary

• Protein general information: Q9BS86  
  • Name: Zona pellucida binding protein 1 (Inner acrosomal membrane IAM38) (Sp38)
  • Length: 351  
  • Mass: 40,142
• Sequence:

  MEAFALGPARRGRRRTRAAGSLLSRAAILLFISAFLVRVPSSVGHLVRLPRAFRLTKDSVKIVGSTSFPVKAYVM
  LHQKSPHVLCVTQQLRNAELIDPSFQWYGPKGKVVSVENRTAQITSTGSLVFQNFEESMSGIYTCFLEYKPTVEE
  IVKRLQLKYAIYAYREPHYYYQFTARYHAAPCNSIYNISFEKKLLQILSKLLLDLSCEISLLKSECHRVKMQRAG
  LQNELFFAFSVSSLDTEKGPKRCTDHNCEPYKRLFKAKNLIERFFNQQVEILGRRAEQLPQIYYIEGTLQMVWIN
  RCFPGYGMNVQQHPKCPECCVICSPGSYNPRDGIHCLQCNSSLVYGAKTCL

• Structural information:
  • Interpro: IPR007110  IPR036179  IPR013783  IPR010857  
  • STRING: ENSP00000046087
• Other Databases: GeneCards:  ZPBP  Malacards:  ZPBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0007339	binding of sperm to zona pellucida	IEA	biological process
GO:0005634	nucleus	IDA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 21911476
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Globozoospermia	MIK: 31985809
Plays an earlier structutal role during spermatogenesis	MIK: 17664285
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Teratozoospermia, male infertility	MIK: 21911476

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21911476	Teratozoospermia, male infertility			621 (381 teratozoospermic, 240 controls)	Male infertility	GOPC PICK1 ZPBP1/sp38
17664285	Plays an earlier structutal role during spermatogenesis				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
31985809	Globozoospermia	p.(Gln311*)		16 infertile patients	Male infertility	NGS