ZP1
gene geneOn this page
Also known as ZPB1
Summary
ZP1 (zona pellucida glycoprotein 1, HGNC:13187) is a protein-coding gene on chromosome 11q12.2, encoding Zona pellucida sperm-binding protein 1 (P60852). Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy.
The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility.
Source: NCBI Gene 22917 — RefSeq curated summary.
At a glance
- Gene–disease (curated): female infertility due to zona pellucida defect (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 148 total — 11 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 4
- Druggable target: yes
- MANE Select transcript:
NM_207341
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13187 |
| Approved symbol | ZP1 |
| Name | zona pellucida glycoprotein 1 |
| Location | 11q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZPB1 |
| Ensembl gene | ENSG00000149506 |
| Ensembl biotype | protein_coding |
| OMIM | 195000 |
| Entrez | 22917 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 3 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay
ENST00000278853, ENST00000537203, ENST00000540908, ENST00000542971, ENST00000543020
RefSeq mRNA: 3 — MANE Select: NM_207341
NM_001391943, NM_001391944, NM_207341
CCDS: CCDS31572
Canonical transcript exons
ENST00000278853 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000990965 | 60869145 | 60869266 |
| ENSE00000990967 | 60869537 | 60869900 |
| ENSE00001304028 | 60867542 | 60867757 |
| ENSE00001305834 | 60870957 | 60871144 |
| ENSE00003459108 | 60874933 | 60875014 |
| ENSE00003508022 | 60870332 | 60870475 |
| ENSE00003524266 | 60873634 | 60873775 |
| ENSE00003553573 | 60873375 | 60873564 |
| ENSE00003573293 | 60875514 | 60875687 |
| ENSE00003593638 | 60873162 | 60873289 |
| ENSE00003610586 | 60875129 | 60875248 |
| ENSE00003653412 | 60871217 | 60871314 |
Expression profiles
Bgee: expression breadth ubiquitous, 143 present calls, max score 96.41.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3623 / max 25.4543, expressed in 161 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 114511 | 0.1791 | 82 |
| 114512 | 0.1171 | 46 |
| 114513 | 0.0491 | 23 |
| 114509 | 0.0127 | 5 |
| 114510 | 0.0043 | 3 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 96.41 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.86 | gold quality |
| secondary oocyte | CL:0000655 | 86.98 | gold quality |
| pituitary gland | UBERON:0000007 | 81.91 | gold quality |
| adenohypophysis | UBERON:0002196 | 80.17 | gold quality |
| left testis | UBERON:0004533 | 71.53 | gold quality |
| right testis | UBERON:0004534 | 70.63 | gold quality |
| testis | UBERON:0000473 | 69.14 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 68.25 | gold quality |
| omental fat pad | UBERON:0010414 | 68.06 | gold quality |
| peritoneum | UBERON:0002358 | 68.02 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 67.49 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 65.41 | gold quality |
| cerebellar cortex | UBERON:0002129 | 65.33 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 64.97 | gold quality |
| cerebellum | UBERON:0002037 | 64.59 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 64.45 | gold quality |
| adipose tissue | UBERON:0001013 | 63.32 | gold quality |
| granulocyte | CL:0000094 | 61.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 61.07 | gold quality |
| adrenal tissue | UBERON:0018303 | 60.92 | gold quality |
| deltoid | UBERON:0001476 | 60.85 | gold quality |
| parotid gland | UBERON:0001831 | 60.26 | gold quality |
| buccal mucosa cell | CL:0002336 | 60.04 | gold quality |
| body of stomach | UBERON:0001161 | 60.04 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 59.96 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 59.63 | gold quality |
| right adrenal gland | UBERON:0001233 | 59.13 | gold quality |
| upper leg skin | UBERON:0004262 | 58.91 | silver quality |
| transverse colon | UBERON:0001157 | 58.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.25 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FIGLA, SOHLH1
Literature-anchored findings (GeneRIF, showing 20)
- ZP proteins were detected in both the oocyte and the granulosa cells as early as the primordial follicle stage in the human. The detection of ZP proteins in the quiescent primordial follicle suggests that these proteins have been present since oogenesis. (PMID:18033806)
- ZP1 binds to capacitated spermatozoa and induces acrosomal exocytosis. (PMID:20504872)
- The ‘ZP domain’ module of human ZP1 has functional activity and may have a role during fertilization in humans. (PMID:20831819)
- observed sequence variations in exons of ZP1 gene in women with infertility of unknown origin who exhibit abnormal zona pellucida; sperm-ovum interactions appear relatively normal in these patients [CASE REPORTS] (PMID:22889493)
- this study identified a homozygous frameshift mutation in ZP1 in six family members with a form of infertility with an autosomal recessive mode of inheritance. (PMID:24670168)
- Our findings presented compound heterozygous mutations in ZP1 associated with Empty follicle syndrome (EFS) and abnormal oocytes and provided further new evidence for the genetic basis of EFS and support for the genetic diagnosis of infertile individuals (PMID:30778819)
- Mutations in ZP1, ZP2, and ZP3 might affect the corresponding protein expression, secretion, and interaction, thus providing a mechanistic explanation for the phenotypes for female infertility. (PMID:30810869)
- Study report a characterization of ZP1 proteins carrying mutations from infertile patients, which suggests that, in human, filament cross-linking by ZP1 is crucial to form a stable zona pellucida (ZP) and map the function of ZP1 to its ZP-N1 domain and determine crystal structures of ZP-N1 homodimers from a chicken homolog of ZP1. (PMID:31300655)
- ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report. (PMID:31734689)
- Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment. (PMID:31909477)
- Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect. (PMID:32244758)
- Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome. (PMID:32556881)
- Zona Pellucida Proteins, Fibrils, and Matrix. (PMID:32569527)
- Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human. (PMID:32573113)
- Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida. (PMID:32829425)
- Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women. (PMID:33423275)
- A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome. (PMID:33665726)
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females. (PMID:35460069)
- A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome. (PMID:35773450)
- Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida. (PMID:36931917)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zpax4 | ENSDARG00000079034 |
| mus_musculus | Zp1 | ENSMUSG00000024734 |
| rattus_norvegicus | Zp1 | ENSRNOG00000020907 |
Paralogs (4): ZP2 (ENSG00000103310), ZP4 (ENSG00000116996), QRICH2 (ENSG00000129646), C16orf96 (ENSG00000205832)
Protein
Protein identifiers
Zona pellucida sperm-binding protein 1 — P60852 (reviewed: P60852)
Alternative names: Zona pellucida glycoprotein 1
All UniProt accessions (3): P60852, H0YG11, V9HWI9
UniProt curated annotations — full annotation on UniProt →
Function. Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida.
Subunit / interactions. Polymers of ZP2 and ZP3 organized into long filaments cross-linked by ZP1 homodimers. Interacts with ZP3.
Subcellular location. Zona pellucida Cell membrane.
Tissue specificity. Expressed in oocytes (at protein level).
Post-translational modifications. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. O-glycosylated.
Disease relevance. Oocyte/zygote/embryo maturation arrest 1 (OZEMA1) [MIM:615774] An autosomal recessive infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida.
Similarity. Belongs to the ZP domain family. ZPB subfamily.
RefSeq proteins (3): NP_001378872, NP_001378873, NP_997224* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000519 | P_trefoil_dom | Domain |
| IPR001507 | ZP_dom | Domain |
| IPR017957 | P_trefoil_CS | Conserved_site |
| IPR017977 | ZP_dom_CS | Conserved_site |
| IPR042235 | ZP-C_dom | Homologous_superfamily |
| IPR044913 | P_trefoil_dom_sf | Homologous_superfamily |
| IPR048290 | ZP_chr | Domain |
| IPR051148 | Zona_Pellucida_Domain_gp | Family |
| IPR054554 | ZP1/4_Ig-like | Domain |
| IPR055355 | ZP-C | Domain |
| IPR055356 | ZP-N | Domain |
Pfam: PF00100, PF22821, PF23344
UniProt features (21 total): glycosylation site 4, disulfide bond 4, chain 2, region of interest 2, topological domain 2, domain 2, signal peptide 1, compositionally biased region 1, sequence variant 1, propeptide 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P60852-F1 | 73.67 | 0.38 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (4): 236–261, 245–260, 255–270, 457–478
Glycosylation sites (4): 76, 379, 561, 596
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2534343 | Interaction With Cumulus Cells And The Zona Pellucida |
MSigDB gene sets: 76 (showing top):
GOBP_SINGLE_FERTILIZATION, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, SP3_Q3, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, TGCTGAY_UNKNOWN, GOBP_SPERM_EGG_RECOGNITION, GOBP_REGULATION_OF_REPRODUCTIVE_PROCESS, RFX1_02, GOBP_FERTILIZATION, GOBP_CELL_CELL_RECOGNITION, TGTYNNNNNRGCARM_UNKNOWN, GOBP_BINDING_OF_SPERM_TO_ZONA_PELLUCIDA, MATZUK_FERTILIZATION, HEB_Q6, YOSHIMURA_MAPK8_TARGETS_UP
GO Biological Process (3): binding of sperm to zona pellucida (GO:0007339), prevention of polyspermy (GO:0060468), single fertilization (GO:0007338)
GO Molecular Function (3): acrosin binding (GO:0032190), structural constituent of egg coat (GO:0035804), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), plasma membrane (GO:0005886), egg coat (GO:0035805), membrane (GO:0016020), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Fertilization | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| sperm-egg recognition | 1 |
| egg activation | 1 |
| negative regulation of fertilization | 1 |
| fertilization | 1 |
| enzyme binding | 1 |
| extracellular matrix structural constituent | 1 |
| egg coat | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| specialized extracellular matrix | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1130 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZP1 | ZP3 | P21754 | 999 |
| ZP1 | ZP2 | Q05996 | 986 |
| ZP1 | ZP4 | Q12836 | 864 |
| ZP1 | GDF9 | O60383 | 769 |
| ZP1 | FIGLA | Q6QHK4 | 749 |
| ZP1 | MMUT | P22033 | 673 |
| ZP1 | NOBOX | O60393 | 659 |
| ZP1 | ASTL | Q6HA08 | 657 |
| ZP1 | IZUMO1 | Q8IYV9 | 647 |
| ZP1 | BMP15 | O95972 | 613 |
| ZP1 | OOSP1 | A8MZH6 | 571 |
| ZP1 | SOHLH1 | Q5JUK2 | 554 |
| ZP1 | SPESP1 | Q6UW49 | 544 |
| ZP1 | DAZL | Q92904 | 537 |
| ZP1 | ZAR1 | Q86SH2 | 536 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZP3 | ZP3 | psi-mi:“MI:0914”(association) | 0.500 |
| ZP1 | ZP3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZP2 | ZP3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZP3 | ZP1 | psi-mi:“MI:0914”(association) | 0.350 |
| ORF61 | USP11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (2): ZP1 (Positive Genetic), ZP1 (Affinity Capture-MS)
ESM2 similar proteins: A6NKQ9, B1AWI6, I6M4H4, O14931, O35714, O46641, O54766, O70394, O95428, P08751, P0DN86, P0DN87, P17813, P19794, P21563, P43021, P51500, P51670, P60852, P61484, Q07104, Q1L6U9, Q3HRV3, Q3S2X5, Q3TYX2, Q4TUC0, Q5DQQ6, Q6AXW8, Q6NT52, Q6UWN5, Q7TPG6, Q86T13, Q86UD1, Q8BZT7, Q8CJH3, Q8IZF5, Q8K1T6, Q8MII8, Q8MJ02, Q8N386
Diamond homologs: I6M4H4, O54766, O54767, O77726, P20239, P42099, P47983, P47984, P48829, P48834, P60852, Q00193, Q05996, Q07287, Q12836, Q62005, Q8CH34, Q9BH10, Q9BH11, Q5DID3, Q96PL2, P54097
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SOHLH1 | “up-regulates quantity by expression” | ZP1 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
148 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 11 |
| Likely pathogenic | 1 |
| Uncertain significance | 114 |
| Likely benign | 11 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (12)
| Variant ID | HGVS | Classification |
|---|---|---|
| 127200 | NM_207341.4(ZP1):c.1169_1176del (p.Ile390fs) | Pathogenic |
| 2065331 | NM_207341.4(ZP1):c.628C>T (p.Gln210Ter) | Pathogenic |
| 3353935 | NM_207341.4(ZP1):c.670C>T (p.Arg224Ter) | Pathogenic |
| 3382275 | NM_207341.4(ZP1):c.1129_1130del (p.Val377fs) | Pathogenic |
| 3383023 | NM_207341.4(ZP1):c.1602C>A (p.Cys534Ter) | Pathogenic |
| 3780815 | NM_207341.4(ZP1):c.874C>T (p.Gln292Ter) | Pathogenic |
| 689404 | NM_207341.4(ZP1):c.1708G>A (p.Val570Met) | Pathogenic |
| 689405 | NM_207341.4(ZP1):c.1430+1G>T | Pathogenic |
| 689406 | NM_207341.4(ZP1):c.1775-8T>C | Pathogenic |
| 695115 | NM_207341.4(ZP1):c.769C>T (p.Gln257Ter) | Pathogenic |
| 812693 | NM_207341.4(ZP1):c.1168del (p.Ile390fs) | Pathogenic |
| 3347218 | NM_207341.4(ZP1):c.1015-1G>A | Likely pathogenic |
SpliceAI
1513 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:60871315:G:GG | donor_gain | 1.0000 |
| 11:60871321:G:T | donor_gain | 1.0000 |
| 11:60873139:A:AG | acceptor_gain | 1.0000 |
| 11:60873140:C:G | acceptor_gain | 1.0000 |
| 11:60873146:T:TA | acceptor_gain | 1.0000 |
| 11:60873149:A:AG | acceptor_gain | 1.0000 |
| 11:60873149:AC:A | acceptor_gain | 1.0000 |
| 11:60873149:ACGT:A | acceptor_gain | 1.0000 |
| 11:60873149:ACGTG:A | acceptor_gain | 1.0000 |
| 11:60873150:C:CA | acceptor_gain | 1.0000 |
| 11:60873153:G:A | acceptor_gain | 1.0000 |
| 11:60873287:AAGGT:A | donor_loss | 1.0000 |
| 11:60873288:AGGTA:A | donor_loss | 1.0000 |
| 11:60873290:G:T | donor_loss | 1.0000 |
| 11:60873291:T:A | donor_loss | 1.0000 |
| 11:60873372:CA:C | acceptor_loss | 1.0000 |
| 11:60873373:A:AG | acceptor_gain | 1.0000 |
| 11:60873373:AGAC:A | acceptor_gain | 1.0000 |
| 11:60873374:G:GA | acceptor_gain | 1.0000 |
| 11:60873374:GA:G | acceptor_gain | 1.0000 |
| 11:60873374:GAC:G | acceptor_gain | 1.0000 |
| 11:60873374:GACG:G | acceptor_gain | 1.0000 |
| 11:60873374:GACGA:G | acceptor_gain | 1.0000 |
| 11:60873560:GACGG:G | donor_gain | 1.0000 |
| 11:60873563:GG:G | donor_gain | 1.0000 |
| 11:60873564:GG:G | donor_gain | 1.0000 |
| 11:60875015:G:GG | donor_gain | 1.0000 |
| 11:60869139:CTGCA:C | acceptor_loss | 0.9900 |
| 11:60869140:TGCA:T | acceptor_loss | 0.9900 |
| 11:60869141:GCA:G | acceptor_loss | 0.9900 |
AlphaMissense
4114 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:60873731:T:C | F510L | 0.992 |
| 11:60873733:C:A | F510L | 0.992 |
| 11:60873733:C:G | F510L | 0.992 |
| 11:60873383:T:C | F417L | 0.991 |
| 11:60873385:C:A | F417L | 0.991 |
| 11:60873385:C:G | F417L | 0.991 |
| 11:60873717:T:C | F505S | 0.991 |
| 11:60873716:T:C | F505L | 0.986 |
| 11:60873717:T:G | F505C | 0.986 |
| 11:60873718:C:A | F505L | 0.986 |
| 11:60873718:C:G | F505L | 0.986 |
| 11:60873547:G:C | W471C | 0.984 |
| 11:60873547:G:T | W471C | 0.984 |
| 11:60869145:A:T | D66V | 0.982 |
| 11:60873732:T:G | F510C | 0.982 |
| 11:60867746:T:C | F62S | 0.980 |
| 11:60874946:G:A | C529Y | 0.980 |
| 11:60874945:T:A | C529S | 0.979 |
| 11:60874946:G:C | C529S | 0.979 |
| 11:60867757:G:C | D66H | 0.977 |
| 11:60869186:T:A | C80S | 0.977 |
| 11:60869187:G:C | C80S | 0.977 |
| 11:60873503:T:A | C457S | 0.977 |
| 11:60873504:G:C | C457S | 0.977 |
| 11:60869150:T:C | F68L | 0.976 |
| 11:60869152:T:A | F68L | 0.976 |
| 11:60869152:T:G | F68L | 0.976 |
| 11:60873508:G:C | W458C | 0.975 |
| 11:60873508:G:T | W458C | 0.975 |
| 11:60869162:T:C | F72L | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000045418 (11:60870068 A>G), RS1000378159 (11:60871579 C>T), RS1000644568 (11:60868556 C>T), RS1000809029 (11:60872997 C>T), RS1000824996 (11:60874765 C>G), RS1000922290 (11:60866979 G>A), RS1001378093 (11:60867186 C>T), RS1001775590 (11:60869211 C>A,G,T), RS1001888185 (11:60873864 T>A,C), RS1001941958 (11:60874250 A>C), RS1002386528 (11:60867638 G>A), RS1002408946 (11:60866286 C>T), RS1002766622 (11:60875372 G>C), RS1002767205 (11:60872672 A>C,G), RS1002847636 (11:60867821 G>C)
Disease associations
OMIM: gene MIM:195000 | disease phenotypes: MIM:615774, MIM:617712
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| female infertility due to zona pellucida defect | Strong | Autosomal recessive |
Mondo (2): female infertility due to zona pellucida defect (MONDO:0014342), oocyte maturation defect 3 (MONDO:0021574)
Orphanet (1): Female infertility due to zona pellucida defect (Orphanet:404466)
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0008222 | Female infertility |
| HP:0011462 | Young adult onset |
| HP:6000328 | Absent zona pellucida |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006296_3 | Response to ziprazidone in schizophrenia | 3.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067247 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.62 | Kd | 2.409 | nM | CHEMBL3752910 |
| 8.62 | ED50 | 2.409 | nM | CHEMBL3752910 |
| 5.37 | Kd | 4247 | nM | CHEMBL5653589 |
| 5.37 | ED50 | 4247 | nM | CHEMBL5653589 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149818: Binding affinity to human ZP1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0024 | uM |
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149818: Binding affinity to human ZP1 incubated for 45 mins by Kinobead based pull down assay | kd | 4.2473 | uM |
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 4 |
| methyleugenol | increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| archazolid B | increases expression | 1 |
| Cadmium | increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652860 | Binding | Binding affinity to human ZP1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: female infertility due to zona pellucida defect
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): female infertility due to zona pellucida defect, oocyte maturation defect 3