ZPBP (zona pellucida binding protein)

Gene

• Entrez ID: 11055
• Gene name: Zona pellucida binding protein
• Gene symbol: ZPBP
• Synonyms (NCBI Gene): SPGF66, ZPBP1
• Chromosome: 7
• Chromosome location: 7p12.2
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017892	hsa-miR-335-5p	Microarray	18185580
MIRT725009	hsa-miR-1277-5p	HITS-CLIP	19536157
MIRT725008	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT725007	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT725006	hsa-miR-569	HITS-CLIP	19536157
MIRT725005	hsa-miR-889-3p	HITS-CLIP	19536157
MIRT725003	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT725004	hsa-miR-3671	HITS-CLIP	19536157
MIRT725002	hsa-miR-2053	HITS-CLIP	19536157
MIRT725001	hsa-miR-607	HITS-CLIP	19536157
MIRT725009	hsa-miR-1277-5p	HITS-CLIP	19536157
MIRT725008	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT725007	hsa-miR-205-3p	HITS-CLIP	19536157
MIRT725006	hsa-miR-569	HITS-CLIP	19536157
MIRT725005	hsa-miR-889-3p	HITS-CLIP	19536157
MIRT725003	hsa-miR-4795-3p	HITS-CLIP	19536157
MIRT725004	hsa-miR-3671	HITS-CLIP	19536157
MIRT725002	hsa-miR-2053	HITS-CLIP	19536157
MIRT725001	hsa-miR-607	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IBA
GO:0001669	Component	Acrosomal vesicle	IDA	31429579, 31985809
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001675	Process	Acrosome assembly	IBA
GO:0002080	Component	Acrosomal membrane	IEA
GO:0002199	Component	Zona pellucida receptor complex	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0007339	Process	Binding of sperm to zona pellucida	IBA
GO:0007339	Process	Binding of sperm to zona pellucida	IEA
GO:0016020	Component	Membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA

Other IDs

• MIM: 608498
• HGNC: 15662
• e!Ensembl: ENSG00000042813

Protein

• UniProt ID: Q9BS86
• Protein name: Zona pellucida-binding protein 1 (Inner acrosomal membrane IAM38) (Sp38)
• Protein function: Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07354	Sp38	177 → 351	Zona-pellucida-binding protein (Sp38)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed specifically in testis. {ECO:0000269|PubMed:17664285}.
• Sequence:

  MEAFALGPARRGRRRTRAAGSLLSRAAILLFISAFLVRVPSSVGHLVRLPRAFRLTKDSV
  KIVGSTSFPVKAYVMLHQKSPHVLCVTQQLRNAELIDPSFQWYGPKGKVVSVENRTAQIT
  STGSLVFQNFEESMSGIYTCFLEYKPTVEEIVKRLQLKYAIYAYREPHYYYQFTARYHAA
  PCNSIYNISFEKKLLQILSKLLLDLSCEISLLKSECHRVKMQRAGLQNELFFAFSVSSLD
  TEKGPKRCTDHNCEPYKRLFKAKNLIERFFNQQVEILGRRAEQLPQIYYIEGTLQMVWIN
  RCFPGYGMNVQQHPKCPECCVICSPGSYNPRDGIHCLQCNSSLVYGAKTCL

• Sequence length: 351

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 66	Pathogenic	rs2128782038	RCV001849239	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO GLOBOZOOSPERMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO ROUND-HEADED SPERMATOZOA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZPBP-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35751016	★☆☆☆☆ Found in Text Mining only
Teratozoospermia	Associate	31985809	★☆☆☆☆ Found in Text Mining only