GLIPR1L1
protein-codingGLIPR1 like 1, the group of GLIPR family
Gene summary
Predicted to enable molecular adaptor activity. Predicted to be involved in fusion of sperm to egg plasma membrane involved in single fertilization and protein localization involved in acrosome reaction. Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be located in acrosomal vesicle and sperm head-tail coupling apparatus. Predicted to be part of protein complex involved in cell-cell adhesion. Predicted to be active in obsolete extracellular space and outer acrosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~35.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GLIPR1L1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001304964.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 27 | 27 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 28 | 0 | 0 | 28 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001291893.1 | 6 | MANE Select | |
| Ensembl | ENSP00000367967.4 | 6 | MANE Select | |
| RefSeq | NP_689992.1 | 5 | Standard | |
| Ensembl | ENSP00000310770.2 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- single fertilization
Cellular Component
- acrosomal vesicle
- extracellular space
- plasma membrane
- anchored component of membrane
- membrane raft
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000312442
- Coding exons
- 5
- Length
- 35922
- Individuals with no LoFs
- 125550
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 194
- Defined
- 125745
- p
- 0.000776
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.121 | 118 | 122 | 0.969 | 0.00000580 | 1522 |
| Missense (PolyPhen) | 31 | 31.505 | 0.98398 | 395 | ||
| Synonymous | 0.599 | 40 | 45.1 | 0.887 | 0.00000248 | 418 |
| Loss of Function | 0.449 | 10 | 11.7 | 0.858 | 5.90e-7 | 143 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0020 | 0.0020 | notable |
| Latino/Admixed American | 0.000059 | 0.000058 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0025 | 0.0023 | notable |
| Finnish | 0.0043 | 0.0043 | notable |
| European (Non-Finnish) | 0.00013 | 0.00013 | rare |
| South Asian | 0.00021 | 0.00020 | rare |
| Other | 0.00082 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Plays a role in the binding between sperm and oocytes. Component of epididymosomes, one type of membranous microvesicules which mediate the transfer of lipids and proteins to spermatozoa plasma membrane during epididymal maturation. Also component of the CD9-positive microvesicules found in the cauda region. {ECO:0000250|UniProtKB:Q32LB5, ECO:0000250|UniProtKB:Q9DAG6}.;
Recessive Scores
- pRec
- 0.0643
Intolerance Scores
- LoFtool
- 0.848
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 43.29
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.273
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |